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frequency</title> <meta name="description" content="Search results for: allele frequency"> <meta name="keywords" content="allele frequency"> <meta name="viewport" content="width=device-width, initial-scale=1, minimum-scale=1, maximum-scale=1, user-scalable=no"> <meta charset="utf-8"> <link href="https://cdn.waset.org/favicon.ico" type="image/x-icon" rel="shortcut icon"> <link href="https://cdn.waset.org/static/plugins/bootstrap-4.2.1/css/bootstrap.min.css" rel="stylesheet"> <link href="https://cdn.waset.org/static/plugins/fontawesome/css/all.min.css" rel="stylesheet"> <link href="https://cdn.waset.org/static/css/site.css?v=150220211555" rel="stylesheet"> </head> <body> <header> <div class="container"> <nav class="navbar navbar-expand-lg navbar-light"> <a class="navbar-brand" href="https://waset.org"> <img src="https://cdn.waset.org/static/images/wasetc.png" alt="Open Science Research Excellence" title="Open Science Research Excellence" /> </a> <button class="d-block d-lg-none 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action="https://publications.waset.org/abstracts/search"> <div id="custom-search-input"> <div class="input-group"> <i class="fas fa-search"></i> <input type="text" class="search-query" name="q" placeholder="Author, Title, Abstract, Keywords" value="allele frequency"> <input type="submit" class="btn_search" value="Search"> </div> </div> </form> </div> </div> <div class="row mt-3"> <div class="col-sm-3"> <div class="card"> <div class="card-body"><strong>Commenced</strong> in January 2007</div> </div> </div> <div class="col-sm-3"> <div class="card"> <div class="card-body"><strong>Frequency:</strong> Monthly</div> </div> </div> <div class="col-sm-3"> <div class="card"> <div class="card-body"><strong>Edition:</strong> International</div> </div> </div> <div class="col-sm-3"> <div class="card"> <div class="card-body"><strong>Paper Count:</strong> 4077</div> </div> </div> </div> <h1 class="mt-3 mb-3 text-center" style="font-size:1.6rem;">Search results for: allele frequency</h1> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4077</span> Allele Frequency of HLA-DRB1* in Thai Population to Predict Factor for Severity of COVID-19 Infection</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Siriniya%20Siribrahmanakul">Siriniya Siribrahmanakul</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Introduction:SARsCOVID-19 is rapidly spreading, and some people may exhibit severe symptoms. Mortality rate of 2.0–3.0% with COVID-19 infection atworldwide. Human leukocyte antigen (HLA), located on chromosome 6, consist of HLA class I and class II. HLA are used by the immune system to attach self-antigens. Previous studies, HLA-DRB1*01:01,HLA-DRB1*12:01and HLA-DRB1*14:04 were, showed significant difference with severe COVID-19 in the Chinese population by p-value < 0.05. Objective: We investigated the prevalence of HLA-DRB1 alleles associated with severe COVID-19 in Thai population. Materials and Methods:200 DNA samples were isolated from EDTA blood using the MagNAprue Compact Nucleic Acid Isolation kits.HLA-DRB1alleles were genotyped using sequence-specific oligonucleotides (PCR-SSOs). Results:The frequency of HLA-DRB1 alleles in Thai population wereHLA-DRB1*12:02 (15.75%), HLA-DRB1*15:02 (14.50%), HLA-DRB1*09:01 (11.50%), HLA-DRB1*07:01 (9.50%), HLA-DRB1*03:01,HLA-DRB1*05:01 (5.75%), HLA-DRB1*14:01 (5.50%), HLA-DRB1*16:02 (4.50%), HLA-DRB1*04:05 (4.00%), HLA-DRB1*14:03 (3.25%), HLA-DRB1*10:01 (2.25%) and HLA-DRB1*13:02 (2.00%). Particularly, HLA-DRB1*12:02 allele was the highest allele frequency presented in the four regions groups of Thai population. Furthermore, the HLA-DRB1* alleles associated with severe COVID-19, which consists ofHLA-DRB1*14:04(2.00 %) and HLA-DRB1*12:01(0.50%) in Thai population, whereas HLA-DRB1*01:01 allele was not found in this population. HLA-DRB1*14:04 and HLA-DRB1*12:01alleles were similarly distributed in four regions populations in Thailand (p-value > 0.05). The alleles frequencies of HLA-DRB1*14:04 and HLA-DRB1*12:01, which associated with severe COVID-19, had no significant differences between Thai population, South China population, South Africa population, and South Koreapopulation (p-value > 0.05). Conclusions: Particularly, this study has focused on allele frequency of HLA-DRB1*14:04in a healthy Thai population to evaluating their impact on the severe COVID-19. Furthermore, our research needs to be done in larger numbers of Thai patients. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=HLA-DRB1" title="HLA-DRB1">HLA-DRB1</a>, <a href="https://publications.waset.org/abstracts/search?q=allele%20frequency" title=" allele frequency"> allele frequency</a>, <a href="https://publications.waset.org/abstracts/search?q=Thai%20population" title=" Thai population"> Thai population</a>, <a href="https://publications.waset.org/abstracts/search?q=COVID-19%20marker" title=" COVID-19 marker"> COVID-19 marker</a> </p> <a href="https://publications.waset.org/abstracts/154734/allele-frequency-of-hla-drb1-in-thai-population-to-predict-factor-for-severity-of-covid-19-infection" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/154734.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">132</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4076</span> CYP2D6*4 Allele Frequency and Extrapyramidal Side Effects during Haloperidol Therapy Among Russians and Tatars: A Pilot Study</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Irina%20S.%20Burashnikova">Irina S. Burashnikova</a>, <a href="https://publications.waset.org/abstracts/search?q=Dmitriy%20A.%20Sychev"> Dmitriy A. Sychev</a>, <a href="https://publications.waset.org/abstracts/search?q=Ruslan%20Y.%20Kazakov"> Ruslan Y. Kazakov</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Сytochrome P450 CYP2D6 activity affects antipsychotic therapy safety. CYP2D6*4 polymorphism frequency varies among different ethnic groups. We studied CYP2D6*4 polymorphism frequency in Tatar and Russian schizophrenic patients and association of CYP2D6*4 polymorphism and extrapyramidal disorders (EPD) frequency in schizophrenic patients on haloperidol monotherapy in daily doses up to 20 mg. Results: Heterozygous CYP2D6*4 allele carrier frequency among Tatars was lower (23.8% vs 32.4% in Russians), but the differences did not reach statistical significance. CYP2D6*4 allele frequency among Tatars was also lower (11.9% vs 24.3% in Russians), but the difference was not quite significant (p=0.0592). Average daily haloperidol dose in the group without EPD was significantly higher than in the group with EPD (11.35±4.6 vs 13.87±3.3 mg, p=0.0252), but average daily haloperidol dose/weight ratios in the compared groups had no significant differences. Statistically significant association between EPD development and heterozygous CYP2D6*1/*4 genotype and CYP2D6*4 allele carrier frequency was revealed among all schizophrenic patients and among those of Tatar nationality. Further well designed pharmacogenetic studies in different Russian regions are needed to improve psychotropic therapy safety and to establish evidence-based indications for pharmacogenetic testing in clinical practice. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=antipsychotic" title="antipsychotic">antipsychotic</a>, <a href="https://publications.waset.org/abstracts/search?q=CYP2D6%20polymorphism" title=" CYP2D6 polymorphism"> CYP2D6 polymorphism</a>, <a href="https://publications.waset.org/abstracts/search?q=ethnic%20differences%20of%20CYP2D6%2A4%20allele%20frequency" title=" ethnic differences of CYP2D6*4 allele frequency"> ethnic differences of CYP2D6*4 allele frequency</a>, <a href="https://publications.waset.org/abstracts/search?q=extrapyramidal%20side%20effects%2Fdisorder" title=" extrapyramidal side effects/disorder"> extrapyramidal side effects/disorder</a>, <a href="https://publications.waset.org/abstracts/search?q=schizophrenia" title=" schizophrenia"> schizophrenia</a>, <a href="https://publications.waset.org/abstracts/search?q=pharmacogenetics" title=" pharmacogenetics"> pharmacogenetics</a>, <a href="https://publications.waset.org/abstracts/search?q=Russians" title=" Russians"> Russians</a>, <a href="https://publications.waset.org/abstracts/search?q=Tatars" title=" Tatars"> Tatars</a> </p> <a href="https://publications.waset.org/abstracts/56640/cyp2d64-allele-frequency-and-extrapyramidal-side-effects-during-haloperidol-therapy-among-russians-and-tatars-a-pilot-study" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/56640.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">324</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4075</span> Identification of Mx Gene Polymorphism in Indragiri Hulu duck by PCR-RFLP</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Restu%20Misrianti">Restu Misrianti</a> </p> <p class="card-text"><strong>Abstract:</strong></p> The amino acid variation of Asn (allele A) at position 631 in Mx gene was specific to positive antiviral to avian viral desease. This research was aimed at identifying polymorphism of Mx gene in duck using molecular technique. Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) technique was used to select the genotype of AA, AG and GG. There were thirteen duck from Indragiri Hulu regency (Riau Province) used in this experiment. DNA amplification results showed that the Mx gene in duck is found in a 73 bp fragment. Mx gene in duck did not show any polymorphism. The frequency of the resistant allele (AA) was 0%, while the frequency of the susceptible allele (GG) was 100%. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=duck" title="duck">duck</a>, <a href="https://publications.waset.org/abstracts/search?q=Mx%20gene" title=" Mx gene"> Mx gene</a>, <a href="https://publications.waset.org/abstracts/search?q=PCR" title=" PCR"> PCR</a>, <a href="https://publications.waset.org/abstracts/search?q=RFLP" title=" RFLP"> RFLP</a> </p> <a href="https://publications.waset.org/abstracts/37764/identification-of-mx-gene-polymorphism-in-indragiri-hulu-duck-by-pcr-rflp" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/37764.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">324</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4074</span> The Distribution of HLA-C* 14:02 Allele in Thai Population to See Risk Factors for Severe COVID-19</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Naso%20Isaiah%20Thanavisuth">Naso Isaiah Thanavisuth</a>, <a href="https://publications.waset.org/abstracts/search?q=Patompong%20Satapornpong"> Patompong Satapornpong</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Introduction: Covid-19 has been a global pandemic for some time now, causing severe symptoms to patients that received the virus. However, there has been no report on this gene in the Thai population. Objective: Our aim in this study is to explore and compare the frequency of HLA-C allele that is associated with severe COVID-19 symptoms in Thais and other populations. Method: 200 general Thai population were enrolled in this study. The genotyping of HLA -C alleles were determined by the polymerase chain reaction with sequence-specific oligonucleotide probes (PCR-SSOP) and Luminex®IS 100 system (Luminex Corporation, Austin, Texas, USA). Results: We found that the frequency of alleles HLA-C* 01:02 (16.00%), HLA-C* 08:01(10.50%), HLA-C* 03:04 (10.25%),HLA-C* 07:02 (10.00%), HLA-C* 03:02 (9.25%), HLA-C* 07:01 (6.75%), HLA-C* 04:01 (5.00%), HLA-C* 06:02 (4.00%), HLA-C* 04:03 (4.00%), and HLA-C* 07:04 (3.75%) were more common in the Thai population. HLA-C* 01:02 (16.00%) allele was the highest frequency in the North, Center, and North East groups in Thailand, but there was the South region that was not significantly different when compared with the other groups of the region. Additionally, HLA-C∗14:02 allele was similarly distributed in Thais (3.00%), African Americans (1.98%), Caucasians (2.08%), Hispanics (1.71%), North American Natives (1.34%) and Asians (5.01%) by p-value = 0.6506, 0.6506, 0.6506, 0.6135 and 0.7182, respectively. Conclusion: Genetic variation database is important to identify HLA can be a risk factor for severe COVID-19 in many populations. In this study, we will support the research of the HLA markers for screening severe COVID-19 in many populations. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=HLA-C%20%2A%2014%3A02" title="HLA-C * 14:02">HLA-C * 14:02</a>, <a href="https://publications.waset.org/abstracts/search?q=COVID-19" title=" COVID-19"> COVID-19</a>, <a href="https://publications.waset.org/abstracts/search?q=allele%20frequency" title=" allele frequency"> allele frequency</a>, <a href="https://publications.waset.org/abstracts/search?q=Thailand" title=" Thailand"> Thailand</a> </p> <a href="https://publications.waset.org/abstracts/155165/the-distribution-of-hla-c-1402-allele-in-thai-population-to-see-risk-factors-for-severe-covid-19" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/155165.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">115</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4073</span> Assesment of SNP Variation and Distribution in Pakistani Cattle Breeds using High Density SNP Genotyping</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Hamid%20Mustafa">Hamid Mustafa</a>, <a href="https://publications.waset.org/abstracts/search?q=Heather%20J.%20Huson"> Heather J. Huson</a>, <a href="https://publications.waset.org/abstracts/search?q=Adeela%20Ajmal"> Adeela Ajmal</a>, <a href="https://publications.waset.org/abstracts/search?q=Kim%20Euisoo"> Kim Euisoo</a>, <a href="https://publications.waset.org/abstracts/search?q=Tad%20S.%20Sonstegard"> Tad S. Sonstegard</a> </p> <p class="card-text"><strong>Abstract:</strong></p> In this study, 67 animals, representing six different cattle breeds of Pakistan, were genotyped with the Bovine high density (777K) SNP Beadchip. These include 13 Sahiwal, 09 Red Sindhi, 13 Tharparkar, 08 Achi, 13 Cholistani and 10 Dhanni cattle breeds. Analysis of 500, 939 SNP markers revealed that the mean minor allele frequency (MAF) was 0.21, 0.22, 0.18, 0.23, 0.22 and 0.22 for Sahiwal, Red Sindhi, Tharparkar, Achi, Cholistani and Dhanni respectively. Significant differences of minor allele frequency (MAF) were observed between the indigenous Pakistani cattle population (P<0.001). Across these Pakistani cattle breeds, a common variant MAF (≥0.10 and ≤0.5) accounted for an overall estimated 75.71 % of the 500,939 SNPs and on the average 19.58 % of the markers were monomorphic. Mean observed (HO) and expected (HE) heterozygosities were 0.656 and 0.638, respectively. This primarily study of Pakistani indigenous cattle breeds indicate that this level of SNPs variation can potentially be used for genomic studies for future breeding plans and for farm animal conservation strategies. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=Pakistan" title="Pakistan">Pakistan</a>, <a href="https://publications.waset.org/abstracts/search?q=cattle" title=" cattle"> cattle</a>, <a href="https://publications.waset.org/abstracts/search?q=minor%20allele%20frequency" title=" minor allele frequency"> minor allele frequency</a>, <a href="https://publications.waset.org/abstracts/search?q=SNP" title=" SNP"> SNP</a>, <a href="https://publications.waset.org/abstracts/search?q=variation" title=" variation"> variation</a> </p> <a href="https://publications.waset.org/abstracts/23039/assesment-of-snp-variation-and-distribution-in-pakistani-cattle-breeds-using-high-density-snp-genotyping" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/23039.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">649</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4072</span> Update on Genetic Diversity for Lamotrigine Induced Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Natida%20Thongsima">Natida Thongsima</a>, <a href="https://publications.waset.org/abstracts/search?q=Patompong%20Satapornpong"> Patompong Satapornpong</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Introduction: Lamotrigine is widely used in the treatment of epilepsy and bipolar disorder. However, lamotrigine leads to adverse drug reactions (ADRs) consist of severe cutaneous adverse reactions (SCARs) include Stevens–Johnson syndrome (SJS), toxic epidermal necrolysis (TEN) and drug rash with eosinophilia and systemic symptoms (DRESS). Moreover, lamotrigine-induced SCARs are usually manifested between 2 and 8 weeks after treatment initiation. According to a previous study, the association between HLA-B*15:02 and lamotrigine-induced cutaneous adverse drug reactions in the Thai population (odds ratio 4.89; 95% CI 1.28–18.66; p-value = 0.014) was found. Therefore, the distribution of pharmacogenetics markers a major role in predicting the culprit drugs for SCARs in many populations. Objective: In this study, we want to investigate the prevalence of HLA-B allele, which correlates with lamotrigine-induced SCARs in the healthy Thai population. Materials and Methods: We enrolled 350 healthy Thai individuals and were approved by the ethics committee of Rangsit University. HLA-B alleles were genotyped by the Lifecodes HLA SSO typing kits (Immucor, West Avenue, Stamford, USA). Results: The results presented HLA-B allele frequency in healthy Thai population were 14.71% (HLA-B*46:01), 8.57% (HLA-B*15:02), 6.71% (HLA-B*40:01), 5.86% (HLA-B*13:01), 5.71% (HLA-B*58:01), 5.14% (HLA-B*38:02), 4.86% (HLA-B*18:01), 4.86% (HLA-B*51:01), 3.86% (HLA-B*44:03) and 2.71% (HLA-B*07:05). Especially, HLA-B*15:02 allele was the high frequency in the Thais (8.57%), Han Chinese (7.30%), Vietnamese (13.50%), Malaysian (6.06%) and Indonesian (11.60%). Nevertheless, this allele was much lower in other populations, namely, Africans, Caucasians, and Japanese. Conclusions: Although the sample size of the healthy Thai population in this research was limited, there were found the frequency of the HLA-B*15:02 allele could predispose them toward to lamotrigine-induced SCARs in Thailand. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=lamotrigine" title="lamotrigine">lamotrigine</a>, <a href="https://publications.waset.org/abstracts/search?q=cutaneous%20adverse%20drug%20reactions" title=" cutaneous adverse drug reactions"> cutaneous adverse drug reactions</a>, <a href="https://publications.waset.org/abstracts/search?q=HLA-B" title=" HLA-B"> HLA-B</a>, <a href="https://publications.waset.org/abstracts/search?q=Thai%20population" title=" Thai population"> Thai population</a> </p> <a href="https://publications.waset.org/abstracts/142701/update-on-genetic-diversity-for-lamotrigine-induced-stevens-johnson-syndrome-and-toxic-epidermal-necrolysis" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/142701.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">191</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4071</span> Haemoglobin Variants and Their Frequency Distribution in Human Population of Niger State, Nigeria</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Akeem%20Akinboro">Akeem Akinboro</a>, <a href="https://publications.waset.org/abstracts/search?q=Bala%20Alhaj%20Kegun"> Bala Alhaj Kegun</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Haemoglobinopathy is a genetic disorder that has the potentiality to cause death of individuals in whom both the alpha (α) and beta (β) globin chains of the haemoglobin molecule are defective due to mutations in their genes. The haemoglobin genotype variants among some residents of Niger state, Nigeria, were determined using the secondary data available at Bida, Minna and Kotangora general hospitals of the state. A total of 1,639 data, representing 434, 655 and 550, collected from the outside patients who visited the medical laboratory units of the three general hospitals, respectively, over five years period (2015-2020) were analyzed into gene frequency, sex and age to determine their haemoglobin genotypes status. More males (51.6 – 58.7%) than females (41.3 – 48.4%) visited the three hospitals during the period covered and most of the patients were between 11 - 20 years old. The frequency of HbA allele in the human population was 0.72, 0.65, 0.68 for Bida, Minna and Kotangora, respectively, while it was 0.25, 0.29 and 0.28 for HbS allele. The HbC allele was prevalent at 0.03, 0.06 and 0.05 among the human population in Bida, Minna and Kotangora cities of Niger state. In overall, the prevalence of HbA, HbS and HbC alleles in Niger state of Nigeria was 0.68, 0.28 and 0.05. Minna being the capital city of Niger state and the most populous among the three cities in the state seems to have influx of more people who are carriers of abnormal haemoglobin genotypes which has resulted to higher frequency of HbS and HbC than those of the other two cities in this study. These results show that the pattern of haemoglobin genotypes frequency of Kontagora could be a prediction for the whole of Niger state. It is therefore necessary and important to take screening of blood for haemoglobin genotype serious among intending couples to prevent and reduce the possibility of having increase in the number of people with abnormal haemoglobin genotypes in the state. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=haemoglobin" title="haemoglobin">haemoglobin</a>, <a href="https://publications.waset.org/abstracts/search?q=genotype" title=" genotype"> genotype</a>, <a href="https://publications.waset.org/abstracts/search?q=niger%20state" title=" niger state"> niger state</a>, <a href="https://publications.waset.org/abstracts/search?q=gene%20frequency" title=" gene frequency"> gene frequency</a>, <a href="https://publications.waset.org/abstracts/search?q=general%20hospitals" title=" general hospitals"> general hospitals</a> </p> <a href="https://publications.waset.org/abstracts/156969/haemoglobin-variants-and-their-frequency-distribution-in-human-population-of-niger-state-nigeria" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/156969.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">102</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4070</span> Impact of HLA-C*03:04 Allele Frequency Screening Test in Preventing Dapsone-induced SCARs in Thais</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Pear-Rarin%20Leelakunakorn">Pear-Rarin Leelakunakorn</a>, <a href="https://publications.waset.org/abstracts/search?q=Patompong%20Satapornpong"> Patompong Satapornpong</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Introduction: Dapsone is an anti-inflammatory and antibiotic drug that was widely used for the treatment of leprosy, acne fulminans, and dermatitis herpetiformis (DH). However, dapsone is the main cause that triggers severe cutaneous adverse reactions (SCARs), with a possibility of 0.4 to 3.6% of patients after initiating treatment. In fact, the mortality rate of dapsone-induced SCARs is approximately 9.9%. In previous studies, HLA-B*13:01 was strongly associated with dapsone-induced SCARs in Han Chinese, Thais, and Koreans. Nevertheless, the distribution of HLA-B*13:01 marker in each population might differ. Moreover, there were found that the association between HLA-C*03:04 and dapsone hypersensitivity syndrome in Han Chinese leprosy patients by OR = 9.00 and p-value = 2.23×10⁻¹⁹. Objective: The aim of this study was to investigate the distribution of HLA-C* 03:04 in Thailand's healthy population. Method: A total of 350 participants were HLA-C genotyping used sequence-specific oligonucleotides (PCR-SSOs). This study was approved by the Ethics Committee of Rangsit University Result : The most frequency of HLA -C alleles in Thais, consist of HLA -C* 01:02 (17.00 %), -C*08:01 (11.00%) , -C*07:02 (10.70%) , -C* 03:04 ( 9.10%) , -C* 03:02 (8.00%) , -C* 07:01 (6.30%), -C* 07:04 (4.60%), -C* 04:01 (4.40%) ,-C* 12:02 ( 4.30% ) ,and -C* 04:03(3.90%). Interestingly, HLA -C* 03:04 allele was similar to the distribution among Thais and other populations such as Eastern Europe (6.09%), Vietnam (7.42% ), East Croatia (2.25%), and Han Chinese (11.70%). Conclusion: Consequently, HLA-C*03:04 might serve as a pharmacogenetic marker for screening prior to initiation therapy with dapsone for prevention of dapsone-induced SCARs in Thai population. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=HLA-C%2A03%3A04" title="HLA-C*03:04">HLA-C*03:04</a>, <a href="https://publications.waset.org/abstracts/search?q=SCARs" title=" SCARs"> SCARs</a>, <a href="https://publications.waset.org/abstracts/search?q=thai%20population" title=" thai population"> thai population</a>, <a href="https://publications.waset.org/abstracts/search?q=allele%20frequency" title=" allele frequency"> allele frequency</a> </p> <a href="https://publications.waset.org/abstracts/146528/impact-of-hla-c0304-allele-frequency-screening-test-in-preventing-dapsone-induced-scars-in-thais" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/146528.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">129</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4069</span> Apolipoprotein A1 -75 G to a Substitution and Its Relationship with Serum ApoA1 Levels among Indian Punjabi Population</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Savjot%20Kaur">Savjot Kaur</a>, <a href="https://publications.waset.org/abstracts/search?q=Mridula%20Mahajan"> Mridula Mahajan</a>, <a href="https://publications.waset.org/abstracts/search?q=AJS%20Bhanwer"> AJS Bhanwer</a>, <a href="https://publications.waset.org/abstracts/search?q=Santokh%20Singh"> Santokh Singh</a>, <a href="https://publications.waset.org/abstracts/search?q=Kawaljit%20Matharoo"> Kawaljit Matharoo</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Background: Disorders of lipid metabolism and genetic predisposition are CAD risk factors. ApoA1 is the apolipoprotein component of anti-atherogenic high density lipoprotein (HDL) particles. The protective action of HDL and ApoA1 is attributed to their central role in reverse cholesterol transport (RCT). Aim: This study was aimed at identifying sequence variations in ApoA1 (-75G>A) and its association with serum ApoA1 levels. Methods: A total of 300 CAD patients and 300 Normal individuals (controls) were analyzed. PCR-RFLP method was used to determine the DNA polymorphism in the ApoA1 gene, PCR products digested with restriction enzyme MspI, followed by Agarose Gel Electrophoresis. Serum apolipoprotein A1 concentration was estimated with immunoturbidimetric method. Results: Deviation from Hardy- Weinberg Equilibrium (HWE) was observed for this gene variant. The A- allele frequency was higher among Coronary Artery disease patients (53.8) compared to controls (45.5), p= 0.004, O.R= 1.38(1.11-1.75). Under recessive model analysis (AA vs. GG+GA) AA genotype of ApoA1 G>A substitution conferred ~1 fold increased risk towards CAD susceptibility (p= 0.002, OR= 1.72(1.2-2.43). With serum ApoA1 levels < 107 A allele frequency was higher among CAD cases (50) as compared to controls (43.4) [p=0.23, OR= 1.2(0.84-2)] and there was zero % occurrence of A allele frequency in individuals with ApoA1 levels > 177. Conclusion: Serum ApoA1 levels were associated with ApoA1 promoter region variation and influence CAD risk. The individuals with the APOA1 -75 A allele confer excess hazard of developing CAD as a result of its effect on low serum concentrations of ApoA1. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=apolipoprotein%20A1%20%28G%3EA%29%20gene%20polymorphism" title="apolipoprotein A1 (G>A) gene polymorphism">apolipoprotein A1 (G>A) gene polymorphism</a>, <a href="https://publications.waset.org/abstracts/search?q=coronary%20artery%20disease%20%28CAD%29" title=" coronary artery disease (CAD)"> coronary artery disease (CAD)</a>, <a href="https://publications.waset.org/abstracts/search?q=reverse%20cholesterol%20transport%20%28RCT%29" title=" reverse cholesterol transport (RCT)"> reverse cholesterol transport (RCT)</a> </p> <a href="https://publications.waset.org/abstracts/41216/apolipoprotein-a1-75-g-to-a-substitution-and-its-relationship-with-serum-apoa1-levels-among-indian-punjabi-population" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/41216.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">315</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4068</span> The Distribution of HLA-B*15:01 and HLA-B*51:01 Alleles in Thai Population: Clinical Implementation and Diagnostic Process of COVID-19 Severity</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Aleena%20Rena%20Onozuka">Aleena Rena Onozuka</a>, <a href="https://publications.waset.org/abstracts/search?q=Patompong%20Satapornpong"> Patompong Satapornpong</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Introduction: In a Human Leukocyte Antigen (HLA)’s immune response, HLA alleles (HLA class I and class II) play a crucial role in fighting against pathogens. HLA-B*15:01 allele had a significant association with asymptomatic COVID-19 infection (p-value = 5.67 x 10-5 ; OR = 2.40 and 95% CI = 1.54 - 3.64). There was also a notable linkage between HLA-B*51:01 allele and critically ill patients with COVID-19 (p-value = 0.007 and OR = 3.38). This study has described the distribution of HLA marker alleles in Thais and sub-groups. Objective: We want to investigate the prevalence of HLA-B*15:01 and HLA-B*51:01 alleles in the Thai population. Materials and Methods: 200 healthy Thai population were included in this study from the College of Pharmacy, Rangsit University. HLA-B alleles were genotyped using the sequence-specific oligonucleotides process (PCR-SSOs). Results: We found out that HLA-B*46:01 (12.00%), HLA-B*15:02 (9.25%), HLA-B*40:01 (6.50%), HLA-B*13:01 (6.25%), and HLA-B* 38:02 (5.50%) alleles were more common than other alleles in Thai population. HLA-B*46:01 and HLA-B*15:02 were the most common allele found across four regions. Moreover, the frequency of HLA-B*15:01 and HLA-B*51:01 alleles were similarly distributed in Thai population (0.50, 5.25 %) and (p-value > 0.05), respectively. The frequencies of HLA-B*15:01 and HLA-B*51:01 alleles were not significantly different from other populations compared to the Thai population. Conclusions: We can screen for HLA-B*15:01 and HLA-B*51:01 alleles to determine the symptoms of COVID-19 since they are universal HLA-B markers. Importantly, the database of HLA markers indicates the association between HLA frequency and populations. However, we need further research on larger numbers of COVID-19 patients and in different populations. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=HLA-B%2A15%3A01" title="HLA-B*15:01">HLA-B*15:01</a>, <a href="https://publications.waset.org/abstracts/search?q=HLA-B%2A51%3A01" title=" HLA-B*51:01"> HLA-B*51:01</a>, <a href="https://publications.waset.org/abstracts/search?q=COVID-19" title=" COVID-19"> COVID-19</a>, <a href="https://publications.waset.org/abstracts/search?q=HLA-B%20alleles" title=" HLA-B alleles"> HLA-B alleles</a> </p> <a href="https://publications.waset.org/abstracts/153609/the-distribution-of-hla-b1501-and-hla-b5101-alleles-in-thai-population-clinical-implementation-and-diagnostic-process-of-covid-19-severity" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/153609.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">120</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4067</span> Role of Apolipoprotein E Polymorphism on the Onset of Inflammatory Bowel Disease in Saudi Patients</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Ebtissam%20Saleh%20Al-Meghaiseeb">Ebtissam Saleh Al-Meghaiseeb</a>, <a href="https://publications.waset.org/abstracts/search?q=Abdulaziz%20Al%20Masood"> Abdulaziz Al Masood</a>, <a href="https://publications.waset.org/abstracts/search?q=Abdulrahman%20Al-Robayan"> Abdulrahman Al-Robayan</a>, <a href="https://publications.waset.org/abstracts/search?q=Reem%20Al-Amro"> Reem Al-Amro</a>, <a href="https://publications.waset.org/abstracts/search?q=Misbahul%20Arfin"> Misbahul Arfin</a>, <a href="https://publications.waset.org/abstracts/search?q=Abdulrahman%20Al%20Asmari"> Abdulrahman Al Asmari</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Objective: The objective of this study was to evaluate the role of apolipoprotein E (APOE) polymorphism on the onset of inflammatory bowel disease (IBD) in Saudi patients. Methods: APOE gene was genotyped to evaluate the frequencies of the alleles and genotypes in Saudi subjects, including IBD patients (n=200) and matched controls (n=200), using APOE StripAssayTM kit (ViennaLab Labordiagnostika GmbH, Vienna, Austria). Results: The frequencies of alleles and genotypes of APOE differed in patients and controls. The APOE allele ε2 and ε4, genotype ε2/ε3 and ε2/ε4 were significantly higher in the IBD patients than the healthy controls. The frequencies of ε3 allele and ε3/ε3 genotype were higher in the control group as compared to patients. The higher prevalence of allele ε2 and ε4 allele in patients compared to that in controls suggested that ε2 and ε4 alleles may increase the risk of IBD. Results also indicated that APOE ε4 allele was associated with early age at onset of IBD. On the other hand, the decreased frequencies of ε3 allele and ε3/ε3 genotype in patients as compared to those in the controls suggested a protective effect of APOE ε3 for IBD susceptibility. In this study, the frequency distribution of APOE alleles and genotypes was not affected by the gender or type of IBD (familial or sporadic). Conclusion: This study indicates that APOE polymorphism plays a significant role in developing IBD and early age of onset in Saudi patients. However, further studies with large-size sample are warranted to confirm this relationship. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=APOE" title="APOE">APOE</a>, <a href="https://publications.waset.org/abstracts/search?q=polymorphism" title=" polymorphism"> polymorphism</a>, <a href="https://publications.waset.org/abstracts/search?q=IBD" title=" IBD"> IBD</a>, <a href="https://publications.waset.org/abstracts/search?q=saudis" title=" saudis"> saudis</a> </p> <a href="https://publications.waset.org/abstracts/156209/role-of-apolipoprotein-e-polymorphism-on-the-onset-of-inflammatory-bowel-disease-in-saudi-patients" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/156209.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">112</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4066</span> Polymorphism in Myostatin Gene and Its Association with Growth Traits in Kurdi Sheep of Northern Khorasan</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Masoud%20Alipanah">Masoud Alipanah</a>, <a href="https://publications.waset.org/abstracts/search?q=Sekineh%20Akbari"> Sekineh Akbari</a>, <a href="https://publications.waset.org/abstracts/search?q=Gholamreza%20Dashab"> Gholamreza Dashab</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Myostatin genes or factor 8 affecting on growth and making differentiation works (GDF8) as a moderator in the development of skeletal muscle inhibitor. If mutations occurs in the coding region of myostatin, alter its inhibitory role and the muscle growth is increased. In this study, blood samples were collected randomly from 60 Kurdish sheep in northern Khorasan and DNA extraction was performed using a modified salt. A fragment 337 bp from exon 3 myostatin gene and-specific primers by using a polymerase chain reaction (PCR) were amplified. In order to detect different forms of an allele at this locus HaeΙΙΙ restriction enzymes and PCR-RFLP analysis were used. Band patterns clarification was performed using agarose gel electrophoresis. The frequency of genotypes mm, Mm, and MM, were respectively detected, 0, 0.15 and 0.85. The allele frequency for alleles m and M, were respectively, 0.07 and 0.93. The statistical analyses indicated that m allele was significantly associated with body weight. The results of this study suggest that the Myostatin gene possibly is a candidate gene that affects growth traits in Kurdish sheep. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=GDF8%20gene" title="GDF8 gene">GDF8 gene</a>, <a href="https://publications.waset.org/abstracts/search?q=Kurdi%20Sheep%20of%20Northern%20Khorasan" title=" Kurdi Sheep of Northern Khorasan"> Kurdi Sheep of Northern Khorasan</a>, <a href="https://publications.waset.org/abstracts/search?q=polymorphism" title=" polymorphism"> polymorphism</a>, <a href="https://publications.waset.org/abstracts/search?q=weight%20traits" title=" weight traits"> weight traits</a> </p> <a href="https://publications.waset.org/abstracts/25104/polymorphism-in-myostatin-gene-and-its-association-with-growth-traits-in-kurdi-sheep-of-northern-khorasan" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/25104.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">340</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4065</span> The Contribution of Genetic Polymorphisms of Tumor Necrosis Factor Alpha and Vascular Endothelial Growth Factor into the Unfavorable Clinical Course of Ulcerative Colitis</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Y.%20I.%20Tretyakova">Y. I. Tretyakova</a>, <a href="https://publications.waset.org/abstracts/search?q=S.%20G.%20Shulkina"> S. G. Shulkina</a>, <a href="https://publications.waset.org/abstracts/search?q=T.%20Y.%20Kravtsova"> T. Y. Kravtsova</a>, <a href="https://publications.waset.org/abstracts/search?q=A.%20A.%20Antipova"> A. A. Antipova</a>, <a href="https://publications.waset.org/abstracts/search?q=N.%20Y.%20Kolomeets"> N. Y. Kolomeets</a> </p> <p class="card-text"><strong>Abstract:</strong></p> The research aimed to assess the functional significance of tumor necrosis factor-alpha (TNF-α) gene polymorphism at the -308G/A (rs1800629) region and vascular endothelial growth factor A (VEGFA) gene polymorphism at the -634G/C (rs 2010963) region in the development of ulcerative colitis (UC), focusing on patients from the Perm region, Russia. We examined 70 UC patients and 50 healthy donors during the active phase of the disease. Our focus was on TNF-α and VEGF concentration in the blood serum, as well as TNF-α and VEGFA gene polymorphisms at the -308G/А and -634G/C regions, respectively. We found that TNF-α and VEGF levels were significantly higher in patients with severe UC and high endoscopic activity compared to those with milder forms of the disease and low endoscopic activity. These tests could serve as additional non-invasive markers for assessing mucosal damage in the large intestine of UC patients. The frequency of allele variations in the TNF-α gene -308G/A (rs1800629) revealed a significantly higher occurrence of the unfavorable homozygote AA in UC patients compared to donors. Additionally, the major allele G and the allele pair GG were more frequent in patients with mild to moderate disease and 1-2 degree of endoscopic activity than in those with severe UC and 3-4 degree of endoscopic activity (χ2=14.19; p=0.000). We also observed a mutant allele A and the unfavorable homozygote AA associated with severe progressive UC. The occurrence of the mutant allele increased the risk of severe UC by 5 times (OR 5.03; CI 12.07-12.21). We did not find any significant differences in the frequency of the CC homozygote (χ2=1.02; p=0.6; OR=1.32) and the mutant allele C of the VEGFA gene -634G/C (rs 2010963) (χ2=0.01; p=0.913; OR=0.97) between groups of UC patients and healthy individuals. However, we detected that the mutant allele C and the unfavorable homozygote CC of the VEGFA gene were associated with more severe endoscopic changes in the colonic mucosa of UC patients (χ2=25,76; р=0,000; OR=0,15). The presence of the mutant allele increased the risk of severe UC by 6 times (OR 6,78; CI 3,13–14,7). We found a direct correlation between TNF-α and VEGFA gene polymorphisms, increased production of the same factors, disease severity, and endoscopic activity (р=0.000). Therefore, the presence of the mutant allele A and homozygote AA of the TNF-α gene at the -308G/A region and the mutant allele C and homozygote CC of the VEGFA gene at the -634G/C region are associated with risks related to an unfavorable clinical course of UC, frequent recurrences, and rapid progression. These findings should be considered when making prognoses regarding the clinical course of the disease and selecting treatment strategies. The presence of the homozygote AA in the TNF-α gene (rs1800629) is considered a sign of genetic predisposition to UC. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=gene%20polymorphism" title="gene polymorphism">gene polymorphism</a>, <a href="https://publications.waset.org/abstracts/search?q=TNF-%CE%B1" title=" TNF-α"> TNF-α</a>, <a href="https://publications.waset.org/abstracts/search?q=ulcerative%20colitis" title=" ulcerative colitis"> ulcerative colitis</a>, <a href="https://publications.waset.org/abstracts/search?q=VEGF" title=" VEGF"> VEGF</a> </p> <a href="https://publications.waset.org/abstracts/174671/the-contribution-of-genetic-polymorphisms-of-tumor-necrosis-factor-alpha-and-vascular-endothelial-growth-factor-into-the-unfavorable-clinical-course-of-ulcerative-colitis" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/174671.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">74</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4064</span> Genetics of Atopic Dermatitis: Role of Cytokines Genes Polymorphisms</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Ghaleb%20Bin%20Huraib">Ghaleb Bin Huraib</a>, <a href="https://publications.waset.org/abstracts/search?q=Fahad%20Al%20Harthi"> Fahad Al Harthi</a>, <a href="https://publications.waset.org/abstracts/search?q=Misbahul%20Arfin"> Misbahul Arfin</a>, <a href="https://publications.waset.org/abstracts/search?q=Abdulrahman%20Al-Asmari"> Abdulrahman Al-Asmari</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Atopic dermatitis (AD), also known as atopic eczema, is a chronic inflammatory skin disease characterized by severe itching and recurrent relapsing eczema-like skin lesions, affecting up to 20% of children and 10% of adults in industrialized countries. AD is a complex multifactorial disease, and its exact etiology and pathogenesis have not been fully elucidated. The aim of this study was to investigate the impact of gene polymorphisms of T helper cell subtype Th1 and Th2 cytokines, interferon-gamma (IFN-γ), interleukin-6 (IL-6) and transforming growth factor (TGF)-β1on AD susceptibility in a Saudi cohort. One hundred four unrelated patients with AD and 195 healthy controls were genotyped for IFN-γ (874A/T), IL-6 (174G/C) and TGF-β1 (509C/T) polymorphisms using ARMS-PCR and PCR-RFLP technique. The frequency of genotypes AA and AT of IFN-γ (874A/T) differed significantly among patients and controls (P 0.001). The genotype AT was increased while genotype AA was decreased in AD patients as compared to controls. AD patients also had higher frequency of T containing genotypes (AT+TT) than controls (P = 0.001). The frequencies of allele T and A were statistically different in patients and controls (P = 0.04). The frequencies of genotype GG and allele G of IL-6 (174G/C) were significantly higher while genotype GC and allele C were lower in AD patients than controls. There was no significant difference in the frequencies of alleles and genotypes of TGF-β1 (509C/T) polymorphism between patient and control groups. These results showed that susceptibility to AD is influenced by presence or absence of genotypes of IFN-γ (874A/T) and IL-6 (174G/C) polymorphisms. It is concluded that T-allele and T-containing genotypes (AT+TT) of IFN-γ (874A/T) and G-allele and GG genotype ofIL-6 (174G/C) polymorphisms are susceptible to AD in Saudis.On the other hand, the TGF-β1 (509C/T) polymorphism may not be associated with AD risk in Saudi population however further studies with large sample size are required to confirm these findings. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=atopic%20dermatitis" title="atopic dermatitis">atopic dermatitis</a>, <a href="https://publications.waset.org/abstracts/search?q=interferon-%CE%B3" title=" interferon-γ"> interferon-γ</a>, <a href="https://publications.waset.org/abstracts/search?q=interleukin-6" title=" interleukin-6"> interleukin-6</a>, <a href="https://publications.waset.org/abstracts/search?q=transforming%20growth%20factor-%CE%B21" title=" transforming growth factor-β1"> transforming growth factor-β1</a>, <a href="https://publications.waset.org/abstracts/search?q=polymorphism" title=" polymorphism"> polymorphism</a> </p> <a href="https://publications.waset.org/abstracts/158922/genetics-of-atopic-dermatitis-role-of-cytokines-genes-polymorphisms" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/158922.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">118</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4063</span> Determination of the CCR5Δ32 Frequency in Emiratis and Tunisians and Screening of the CCR5 Gene for Novel Alleles in Emiratis</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Sara%20A.%20Al-Jaberi">Sara A. Al-Jaberi</a>, <a href="https://publications.waset.org/abstracts/search?q=Salma%20Ben-Salem"> Salma Ben-Salem</a>, <a href="https://publications.waset.org/abstracts/search?q=Meriam%20Messedi"> Meriam Messedi</a>, <a href="https://publications.waset.org/abstracts/search?q=Fatma%20Ayadi"> Fatma Ayadi</a>, <a href="https://publications.waset.org/abstracts/search?q=Lihadh%20Al-Gazali"> Lihadh Al-Gazali</a>, <a href="https://publications.waset.org/abstracts/search?q=Bassam%20R.%20Ali"> Bassam R. Ali</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Background: The chemokine receptor components play crucial roles in the immune system and some of them serve as co-receptors for the HIV virus. Several studies have documented those variants in chemokine receptors are correlated with susceptibility and resistance to infection with HIV virus. For example, mutations in the chemokine receptor 5 gene (CCR5) resulting in loss-of-function (such as the homozygous CCR5Δ32) confer high degree of resistance to HIV infection. Heterozygotes for these variants exhibit slow progression to AIDS. The prevalence of CCR5 polymorphisms varies among ethnic and geographical groups. For example, the CCR5 Δ32 variant is present in 10–15% of north Europeans but is rarely encountered among Africans. This study aims to identify the prevalence of some CCR5 variants in two geographically distant Arab populations (namely Emiratis and Tunisians). Methodology: The prevalence of CCR5 gene variants including CCR5Δ32, FS299, C101X, A29S and C178R has been determined using PCR and direct DNA sequencing. A total of 403 unrelated healthy individuals (253 Emiratis and 150 Tunisians) were genotyped for the CCR5Δ32 variant using PCR amplification and gel electrophoresis. In addition, 200 Emiratis have been screened for other SNPs using Sanger DNA sequencing. Results: Among Emiratis, the allele frequency of the CCR5Δ32 variant has been found to be 0.002. In addition, two variants L55Q and A159 were found at a frequency of 0.002.Moreover, the prevalence of the CCR5Δ32 variant in Tunisians was estimated to be 0.013 which is relatively higher than its frequency in Emiratis but lower than Europeans. Conclusion: We conclude that the allele frequency of the most critical CCR5 polymorphism (Δ32) is extremely low among Emiratis compared to other Arabs and North Europeans. In addition, very low allele frequencies of other CCR5 polymorphisms have been detected among Emiratis. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=chemokine%20receptors" title="chemokine receptors">chemokine receptors</a>, <a href="https://publications.waset.org/abstracts/search?q=CCR5%CE%9432" title=" CCR5Δ32"> CCR5Δ32</a>, <a href="https://publications.waset.org/abstracts/search?q=CCR5%20polymorphisms" title=" CCR5 polymorphisms"> CCR5 polymorphisms</a>, <a href="https://publications.waset.org/abstracts/search?q=Emiratis" title=" Emiratis"> Emiratis</a>, <a href="https://publications.waset.org/abstracts/search?q=Arab%20populations" title=" Arab populations"> Arab populations</a> </p> <a href="https://publications.waset.org/abstracts/5778/determination-of-the-ccr5d32-frequency-in-emiratis-and-tunisians-and-screening-of-the-ccr5-gene-for-novel-alleles-in-emiratis" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/5778.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">378</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4062</span> Genetics of Atopic Dermatitis: Role of Cytokine Genes Polymorphisms</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Ghaleb%20Bin%20Huraib">Ghaleb Bin Huraib</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Atopic dermatitis (AD), also known as atopic eczema, is a chronic inflammatory skin disease characterized by severe itching and recurrent, relapsing eczema-like skin lesions, affecting up to 20% of children and 10% of adults in industrialized countries. AD is a complex multifactorial disease, and its exact etiology and pathogenesis have not been fully elucidated. The aim of this study was to investigate the impact of gene polymorphisms of T helper cell subtype Th1 and Th2 cytokines, interferon-gamma (IFN-γ), interleukin-6 (IL-6) and transforming growth factor (TGF)-β1on AD susceptibility in a Saudi cohort. One hundred four unrelated patients with AD and 195 healthy controls were genotyped for IFN-γ (874A/T), IL-6 (174G/C) and TGF-β1 (509C/T) polymorphisms using ARMS-PCR and PCR-RFLP technique. The frequency of genotypes AA and AT of IFN-γ (874A/T) differed significantly among patients and controls (P 0.001). The genotype AT was increased while genotype AA was decreased in AD patients as compared to controls. AD patients also had a higher frequency of T-containing genotypes (AT+TT) than controls (P = 0.001). The frequencies of alleles T and A were statistically different in patients and controls (P = 0.04). The frequencies of genotype GG and allele G of IL-6 (174G/C) were significantly higher, while genotype GC and allele C were lower in AD patients than in controls. There was no significant difference in the frequencies of alleles and genotypes of TGF-β1 (509C/T) polymorphism between the patient and control groups. These results showed that susceptibility to AD is influenced by the presence or absence of genotypes of IFN-γ (874A/T) and IL-6 (174G/C) polymorphisms. It is concluded T-allele and T-containing genotypes (AT+TT) of IFN-γ (874A/T) and G-allele and GG genotype ofIL-6 (174G/C) polymorphisms are susceptible to AD in Saudis. On the other hand, the TGF-β1 (509C/T) polymorphism may not be associated with AD risk in our population; however, further studies with large sample sizes are required to confirm these results. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=atopic%20dermatitis" title="atopic dermatitis">atopic dermatitis</a>, <a href="https://publications.waset.org/abstracts/search?q=Polymorphism" title=" Polymorphism"> Polymorphism</a>, <a href="https://publications.waset.org/abstracts/search?q=Interferon" title=" Interferon"> Interferon</a>, <a href="https://publications.waset.org/abstracts/search?q=IL-6" title=" IL-6"> IL-6</a> </p> <a href="https://publications.waset.org/abstracts/160457/genetics-of-atopic-dermatitis-role-of-cytokine-genes-polymorphisms" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/160457.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">66</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4061</span> Angiotensin Converting Enzyme (ACE) and Angiotensinogen (AGT) Gene Variants in Pakistani Patients of Diabetes Mellitus and Diabetic Nephropathy</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Rozeena%20Shaikh">Rozeena Shaikh</a>, <a href="https://publications.waset.org/abstracts/search?q=Syed%20M%20Shahid"> Syed M Shahid</a>, <a href="https://publications.waset.org/abstracts/search?q=Jamil%20Ahmad"> Jamil Ahmad</a>, <a href="https://publications.waset.org/abstracts/search?q=Qaisar%20Mansoor"> Qaisar Mansoor</a>, <a href="https://publications.waset.org/abstracts/search?q=Muhammad%20Ismail"> Muhammad Ismail</a>, <a href="https://publications.waset.org/abstracts/search?q=Abid%20Azhar"> Abid Azhar</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Introduction: Diabetes mellitus (DM) is a prevalent non-communicable disease worldwide. In most high-income countries as well as middle-income and low- income countries. DM is among the top causes of deaths. DM may lead to many vascular complications like hypertension, nephropathy, retinopathy, neuropathy, and foot. Diabetic nephropathy (DN) characterized by persistent albuminuria is a leading cause of end stage renal failure (ESRF). Pathogenesis of diabetic nephropathy is implicated by the polymorphisms in genes encoding the components of reninangiotensin- aldosteron system (RAAS) which include angiotensinogen (AGT), angiotensin-II receptor and particularly angiotensin converting enzyme (ACE) gene. Method: Study subjects include 110 control, 110 patients with DM without hypertension, 110 patients with DM with hypertension and 110 patients with DN. Blood samples were collected for Biochemical analysis and PCR and sequencing for the specific region of both genes. Results: The frequency of DD genotype and D allele of ACE (I/D) was significantly (p<0.05) high in DM normotensive, DM hypertensive and DN patients when compared to control. The ACE G2350A genotypes and allele frequencies were significantly different (p<0.05) in DM hypertensive patients as compared to control and DN, while no difference was observed between DM normotensive and DN when compared to control. The genotypes and alleles of AGT (M268T) polymorphism were significantly different (p<0.05) in DM normotensive, DM hypertensive and DN when compared to control. Conclusion: The DD genotype and D allele of ACE (I/D), GG genotype and G allele of ACE (G2350A) and the TT genotype and T allele of AGT (M268T) polymorphism have shown a significant difference in genotype and allele frequencies between controls and patients. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=genetic%20variations" title="genetic variations">genetic variations</a>, <a href="https://publications.waset.org/abstracts/search?q=ACE" title=" ACE"> ACE</a>, <a href="https://publications.waset.org/abstracts/search?q=AGT" title=" AGT"> AGT</a>, <a href="https://publications.waset.org/abstracts/search?q=diabetes%20mellitus" title=" diabetes mellitus"> diabetes mellitus</a>, <a href="https://publications.waset.org/abstracts/search?q=diabetic%20nephropathy" title=" diabetic nephropathy"> diabetic nephropathy</a>, <a href="https://publications.waset.org/abstracts/search?q=Pakistan" title=" Pakistan"> Pakistan</a> </p> <a href="https://publications.waset.org/abstracts/15166/angiotensin-converting-enzyme-ace-and-angiotensinogen-agt-gene-variants-in-pakistani-patients-of-diabetes-mellitus-and-diabetic-nephropathy" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/15166.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">392</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4060</span> Database of Pharmacogenetics HLA-A*31:01 Allele in Thai Population and Carbamazepine-Induced SCARs</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Watchawin%20Ekphinitphithaya">Watchawin Ekphinitphithaya</a>, <a href="https://publications.waset.org/abstracts/search?q=Patompong%20Satapornpong"> Patompong Satapornpong</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Introduction: Carbamazepine (CBZ) is one of the most prescribed antiepileptic drugs (AEDs) by neurologists and non-neurologist worldwide. CBZ is usually prescribed along with other drugs, leading to the possibility of severe cutaneous adverse drug reactions (SCARs). The HLA-B*15:02 is strongly associated with CBZ-induced Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS–TEN) in the Han Chinese and other Asian populations but not in European populations, while HLA-A*31:01 allele has been reported to be associated with CBZ-induced SCARs in European population and Japanese. Objective: The aim of this study is to investigate the distribution of pharmacogenetics HLA-A*31:01 marker in a healthy Thai population associated with Carbamazepine-induced SCARs. Materials and Methods: Prospective study, 350 unrelated healthy Thais were recruited in this study. Human leukocyte antigen-A alleles were genotyped using PCR-sequence specific oligonucleotides (PCR-SSOs). Results: The frequency of HLA-A alleles were HLA-A*11:01 (190 alleles, 27.14%), HLA-A*24:02 (82 alleles, 11.71%), HLA-A*02:03 (80 alleles, 11.43%), HLA-A*33:03 (76 alleles, 10.86%), HLA-A*02:07 (58 alleles, 8.29%), HLA-A*02:01 (35 alleles, 5.00%), HLA-A*24:07 (29 alleles, 4.14%), HLA-A*02:06 – HLA-A*30:01 (15 alleles, 2.14%), and HLA-A*01:01 (14 alleles, 2.00%). Particularly, the number of HLA-A*31:01 alleles was 6 of 700 (0.86%) in the healthy Thai population. Many research presented varying distributions of HLA-A*31:01 in Asians, including 2% of Han Chinese, 9% of Japanese and 5% of Koreans. In addition, this allele was found approximately 2-5% in the Caucasian population. Conclusions: Thus, the pharmacogenetics database is vital to support in many populations, especially in Thais, for screening HLA-A*31:01 allele to avoid CBZ-induced SCARs before initiating treatments in each population. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=Carbamazepine" title="Carbamazepine">Carbamazepine</a>, <a href="https://publications.waset.org/abstracts/search?q=HLA-A%2A31%3A01" title=" HLA-A*31:01"> HLA-A*31:01</a>, <a href="https://publications.waset.org/abstracts/search?q=Thai%20population" title=" Thai population"> Thai population</a>, <a href="https://publications.waset.org/abstracts/search?q=pharmacogenetics" title=" pharmacogenetics"> pharmacogenetics</a> </p> <a href="https://publications.waset.org/abstracts/142633/database-of-pharmacogenetics-hla-a3101-allele-in-thai-population-and-carbamazepine-induced-scars" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/142633.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">170</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4059</span> Genotypic and Allelic Distribution of Polymorphic Variants of Gene SLC47A1 Leu125Phe (rs77474263) and Gly64Asp (rs77630697) and Their Association to the Clinical Response to Metformin in Adult Pakistani T2DM Patients</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Sadaf%20Moeez">Sadaf Moeez</a>, <a href="https://publications.waset.org/abstracts/search?q=Madiha%20Khalid"> Madiha Khalid</a>, <a href="https://publications.waset.org/abstracts/search?q=Zoya%20Khalid"> Zoya Khalid</a>, <a href="https://publications.waset.org/abstracts/search?q=Sania%20Shaheen"> Sania Shaheen</a>, <a href="https://publications.waset.org/abstracts/search?q=Sumbul%20Khalid"> Sumbul Khalid</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Background: Inter-individual variation in response to metformin, which has been considered as a first line therapy for T2DM treatment is considerable. In the current study, it was aimed to investigate the impact of two genetic variants Leu125Phe (rs77474263) and Gly64Asp (rs77630697) in gene <em>SLC47A1</em> on the clinical efficacy of metformin in T2DM Pakistani patients. Methods: The study included 800 T2DM patients (400 metformin responders and 400 metformin non-responders) along with 400 ethnically matched healthy individuals. The genotypes were determined by allele-specific polymerase chain reaction. <em>In-silico</em> analysis was done to confirm the effect of the two SNPs on the structure of genes. Association was statistically determined using SPSS software. Results: Minor allele frequency for rs77474263 and rs77630697 was 0.13 and 0.12. For <em>SLC47A1 </em>rs77474263 the homozygotes of one mutant allele ‘T’ (CT) of rs77474263 variant were fewer in metformin responders than metformin non-responders (29.2% vs. 35.5 %). Likewise, the efficacy was further reduced (7.2% vs. 4.0 %) in homozygotes of two copies of ‘T’ allele (TT). Remarkably, T2DM cases with two copies of allele ‘C’ (CC) had 2.11 times more probability to respond towards metformin monotherapy. For <em>SLC47A1 </em>rs77630697 the homozygotes of one mutant allele ‘A’ (GA) of rs77630697 variant were fewer in metformin responders than metformin non-responders (33.5% vs. 43.0 %). Likewise, the efficacy was further reduced (8.5% vs. 4.5%) in homozygotes of two copies of ‘A’ allele (AA). Remarkably, T2DM cases with two copies of allele ‘G’ (GG) had 2.41 times more probability to respond towards metformin monotherapy. <em>In-silico</em> analysis revealed that these two variants affect the structure and stability of their corresponding proteins. Conclusion: The present data suggest that <em>SLC47A1 </em>Leu125Phe (rs77474263) and Gly64Asp (rs77630697) polymorphisms were associated with the therapeutic response of metformin in T2DM patients of Pakistan. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=diabetes" title="diabetes">diabetes</a>, <a href="https://publications.waset.org/abstracts/search?q=T2DM" title=" T2DM"> T2DM</a>, <a href="https://publications.waset.org/abstracts/search?q=SLC47A1" title=" SLC47A1"> SLC47A1</a>, <a href="https://publications.waset.org/abstracts/search?q=Pakistan" title=" Pakistan"> Pakistan</a>, <a href="https://publications.waset.org/abstracts/search?q=polymorphism" title=" polymorphism"> polymorphism</a> </p> <a href="https://publications.waset.org/abstracts/105468/genotypic-and-allelic-distribution-of-polymorphic-variants-of-gene-slc47a1-leu125phe-rs77474263-and-gly64asp-rs77630697-and-their-association-to-the-clinical-response-to-metformin-in-adult-pakistani-t2dm-patients" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/105468.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">159</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4058</span> Molecular and Genetic Characterization of Diacylglycerol Acyltransferase1 Gene in Sudanese Dairy Cattle Kenana and Butana</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Safa%20Abusara%20Mohammed%20Ali">Safa Abusara Mohammed Ali</a>, <a href="https://publications.waset.org/abstracts/search?q=Mohammed%20Khair%20Abdallah"> Mohammed Khair Abdallah</a>, <a href="https://publications.waset.org/abstracts/search?q=Gurdon%20A.%20Brockmann"> Gurdon A. Brockmann</a>, <a href="https://publications.waset.org/abstracts/search?q=M.%20Reissmann"> M. Reissmann</a> </p> <p class="card-text"><strong>Abstract:</strong></p> The aim of the study was the characterization of DGAT1 variants in Sudanese dairy cattle breeds. In this study, we examined 94 Kenana and 91 Butana dairy cattle from two regions of Sudan. We genotyped the DGAT1 sequence variant AJ318490.1:g.10433/10434 AA>GC that leads to the Lysine – Alanine substitution at position 232 (K232A) in the protein and the VNTR polymorphism in the promoter region. Genotyping was performed by allele specific PCR and PCR fragment lengths determination, respectively. In both breeds, the DGAT1 Lysine variant (232K) that is associated with high fat and protein content as well as high fat yield in other breeds is the high frequent allele. The frequencies of the 232K allele were 96.3% and 84.6% in Kenana and Butana breeds, respectively. At the DGAT1 promoter VNTR locus, four alleles containing four to seven repeats of the 18 bp motif were found in both breeds. The highest frequent allele was the VNTR allele 3 containing five repeats with 60.4 % and 57.5 % in Kenana and Butana breeds, respectively. In conclusion, the two examined Sudanese dairy cattle breeds do not differ in allele frequencies at the DGAT1 locus. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=dairy%20cattle" title="dairy cattle">dairy cattle</a>, <a href="https://publications.waset.org/abstracts/search?q=DGAT1" title=" DGAT1"> DGAT1</a>, <a href="https://publications.waset.org/abstracts/search?q=Kenana" title=" Kenana"> Kenana</a>, <a href="https://publications.waset.org/abstracts/search?q=Butana." title=" Butana."> Butana.</a> </p> <a href="https://publications.waset.org/abstracts/158874/molecular-and-genetic-characterization-of-diacylglycerol-acyltransferase1-gene-in-sudanese-dairy-cattle-kenana-and-butana" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/158874.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">121</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4057</span> Distribution of HLA-DQA1 and HLA-DQB1 Alleles in Thais: Genetics Database Insight for COVID-19 Severity</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Jinu%20Phonamontham">Jinu Phonamontham</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Coronavirus, also referred to as COVID-19, is a virus caused by the SARS-Cov-2 virus. The pandemic has caused over 10 million cases and 500,000 deaths worldwide through the end of June 2020. In a previous study, HLA-DQA1*01:02 allele was associated with COVID-19 disease (p-value = 0.0121). Furthermore, there was a statistical significance between HLA- DQB1*06:02 and COVID-19 in the Italian population by Bonferroni’s correction (p-value = 0.0016). Nevertheless, there is no data describing the distribution of HLA alleles as a valid marker for prediction of COVID-19 in the Thai population. We want to investigate the prevalence of HLA-DQA1*01:02 and HLA-DQB1*06:02 alleles that are associated with severe COVID-19 in the Thai population. In this study, we recruited 200 healthy Thai individuals. Genomic DNA samples were isolated from EDTA blood using Genomic DNA Mini Kit. HLA genotyping was conducted using the Lifecodes HLA SSO typing kits (Immucor, West Avenue, Stamford, USA). The frequency of HLA-DQA1 alleles in Thai population, consisting of HLA-DQA1*01:01 (27.75%), HLA-DQA1*01:02 (24.50%), HLA-DQA1*03:03 (13.00%), HLA-DQA1*06:01 (10.25%) and HLA-DQA1*02:01 (6.75%). Furthermore, the distributions of HLA-DQB1 alleles were HLA-DQB1*05:02 (21.50%), HLA-DQB1*03:01 (15.75%), HLA-DQB1*05:01 (14.50%), HLA-DQB1*03:03 (11.00%) and HLA-DQB1*02:02 (8.25%). Particularly, HLA- DQA1*01:02 (29.00%) allele was the highest frequency in the NorthEast group, but there was not significant difference when compared with the other regions in Thais (p-value = 0.4202). HLA-DQB1*06:02 allele was similarly distributed in Thai population and there was no significant difference between Thais and China (3.8%) and South Korea (6.4%) and Japan (8.2%) with p-value > 0.05. Whereas, South Africa (15.7%) has a significance with Thais by p-value of 0.0013. This study supports the specific genotyping of the HLA-DQA1*01:02 and HLA-DQB1*06:02 alleles to screen severe COVID-19 in Thai and many populations. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=HLA-DQA1%2A01%3A02" title="HLA-DQA1*01:02">HLA-DQA1*01:02</a>, <a href="https://publications.waset.org/abstracts/search?q=HLA-DQB1%2A06%3A02" title=" HLA-DQB1*06:02"> HLA-DQB1*06:02</a>, <a href="https://publications.waset.org/abstracts/search?q=Asian" title=" Asian"> Asian</a>, <a href="https://publications.waset.org/abstracts/search?q=Thai%20population" title=" Thai population"> Thai population</a> </p> <a href="https://publications.waset.org/abstracts/159120/distribution-of-hla-dqa1-and-hla-dqb1-alleles-in-thais-genetics-database-insight-for-covid-19-severity" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/159120.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">99</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4056</span> Apolipoprotein E Gene Polymorphism and Its Association with Cardiovascular Heart Disease Risk Factors in Type 2 Diabetes Mellitus</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Amani%20Ashari">Amani Ashari</a>, <a href="https://publications.waset.org/abstracts/search?q=Julia%20Omar"> Julia Omar</a>, <a href="https://publications.waset.org/abstracts/search?q=Arif%20Hashim"> Arif Hashim</a>, <a href="https://publications.waset.org/abstracts/search?q=Shahrul%20Hamid"> Shahrul Hamid</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Apolipoprotein E (APOE) gene polymorphism has influence on serum lipids which relates to cardiovascular risk. The purpose of this study was to determine the frequency distribution of APOE alleles among Malaysian Type 2 Diabetes Mellitus (DM) patients with and without coronary artery disease (CAD) and their association with serum lipid profiles. A total of 115 patients were recruited in which 78 patients had Type 2 DM without CAD and 37 patients had Type 2 DM with CAD. The APOE polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The APOE ɛ3 allele was the most common one in both groups. There was no significant association between the APOE genotypes and the CAD status in Type 2 DM using Pearson χ<sup>2 </sup>test. Further analysis indicated there were no significant differences in all lipid parameters between E2, E3 and E4 subgroups in both groups. The study showed that the E4 allele carriers of Type 2 DM with CAD patients had higher LDL-C level and lower HDL-C level compared to the other allele carriers. However, analyses showed these levels were not statistically different. The study also showed that the Type 2 DM with CAD group with E2 allele had higher triglyceride (TG). In conclusion, further study with larger sample size is needed to confirm role of E4 as a marker of CAD among Type 2 DM patients in Malaysian population. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=Apolipoprotein%20E" title="Apolipoprotein E">Apolipoprotein E</a>, <a href="https://publications.waset.org/abstracts/search?q=diabetes%20mellitus" title=" diabetes mellitus"> diabetes mellitus</a>, <a href="https://publications.waset.org/abstracts/search?q=cardiovascular%20disease" title=" cardiovascular disease"> cardiovascular disease</a>, <a href="https://publications.waset.org/abstracts/search?q=lipids" title=" lipids"> lipids</a> </p> <a href="https://publications.waset.org/abstracts/55509/apolipoprotein-e-gene-polymorphism-and-its-association-with-cardiovascular-heart-disease-risk-factors-in-type-2-diabetes-mellitus" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/55509.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">293</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4055</span> Genetic Polymorphism of Milk Protein Gene and Association with Milk Production Traits in Local Latvian Brown Breed Cows</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Daina%20Jonkus">Daina Jonkus</a>, <a href="https://publications.waset.org/abstracts/search?q=Solvita%20Petrovska"> Solvita Petrovska</a>, <a href="https://publications.waset.org/abstracts/search?q=Dace%20Smiltina"> Dace Smiltina</a>, <a href="https://publications.waset.org/abstracts/search?q=Lasma%20Cielava"> Lasma Cielava</a> </p> <p class="card-text"><strong>Abstract:</strong></p> The beta-lactoglobulin and kappa-casein are milk proteins which are important for milk composition. Cows with beta-lactoglobulin and kappa-casein gene BB genotypes have highest milk crude protein and fat content. The aim of the study was to determinate the frequencies of milk protein gene polymorphisms in local Latvian Brown (LB) cows breed and analyze the influence of beta-lactoglobulin and kappa-casein genotypes to milk productivity traits. 102 cows’ genotypes of milk protein genes were detected using Polymerase Chain Reaction and Restriction Fragment Length Polymorphism (PCR-RFLP) and electrophoresis on 3% agarose gel. For beta-lactoglobulin were observed 2 types of alleles A and B and for kappa-casein 3 types: A, B and E. Highest frequency in beta-lactoglobulin gene was observed for B allele – 0.926. Molecular analysis of beta-lactoglobulin gene shows 86.3% of individuals are homozygous by B allele and animals are with genotypes BB and 12.7% of individuals are heterozygous with genotypes AB. The highest milk yield 4711.7 kg was for 1st lactation cows with AB genotypes, whereas the highest milk protein content (3.35%) and fat content (4.46 %) was for BB genotypes. Analysis of the kappa-casein locus showed a prevalence of the A allele – 0.750. The genetic variant of B was characterized by a low frequency – 0.240. Moreover, the frequency of E occurred in the LB cows’ population with very low frequency – 0.010. 54.9 % of cows are homozygous with genotypes AA, and only 4.9 % are homozygous with genotypes BB. 32.8 % of individuals are heterozygous with genotypes AB, and 2.0 % are with AE. The highest milk productivity was for 1st lactation cows with AB genotypes: milk yield 4620.3 kg, milk protein content 3.39% and fat content 4.53 %. According to the results, in local Latvian brown there are only 2.9% of cows are with BB-BB genotypes, which is related to milk coagulation ability and affected cheese production yield. Acknowledgment: the investigation is supported by VPP 2014-2017 AgroBioRes Project No. 3 LIVESTOCK. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=beta-lactoglobulin" title="beta-lactoglobulin">beta-lactoglobulin</a>, <a href="https://publications.waset.org/abstracts/search?q=cows" title=" cows"> cows</a>, <a href="https://publications.waset.org/abstracts/search?q=genotype%20frequencies" title=" genotype frequencies"> genotype frequencies</a>, <a href="https://publications.waset.org/abstracts/search?q=kappa-casein" title=" kappa-casein"> kappa-casein</a> </p> <a href="https://publications.waset.org/abstracts/59510/genetic-polymorphism-of-milk-protein-gene-and-association-with-milk-production-traits-in-local-latvian-brown-breed-cows" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/59510.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">272</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4054</span> Prevalence of Complement Factor H (Y402H) Gene Polymorphism and Its Impact on the Predisposition of Syrians to Age-Related Macular Degeneration (AMD) and Response to Bevacizumab Intravitreal Injection</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Loubna%20Safar">Loubna Safar</a>, <a href="https://publications.waset.org/abstracts/search?q=Lama%20Youssef"> Lama Youssef</a>, <a href="https://publications.waset.org/abstracts/search?q=Majd%20Aljamali"> Majd Aljamali</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Age-related macular degeneration (AMD) is one of the leading causes of blindness worldwide. Complement factor H polymorphism (Y402H) is thought to play a potential role in the predisposition to AMD and response of patients with exudative AMD to treatment with anti-Vascular Endothelial Growth Factor (anti-VEGF). This study aimed to investigate the frequency of Y402H among Syrians, its impact on their susceptibility to AMD, and the hypothesized role of Y402H in patients' response to intravitreal anti-VEGF (i.e.,, bevacizumab). Our case-control study encompassed unrelated 54 AMD cases and 44 controls. Genotyping was determined by standard sequencing of PCR products. Frequency was compared between patients and controls, and correlation between genotype and response to treatment was assessed in 20 patients with wet AMD who received a therapeutic course of three intravitreal bevacizumab injections (once monthly). Our results revealed a significantly higher prevalence of the risk allele C among AMD cases (51.9%) in comparison with controls (37.5%) (P= 0.04, OR= 1.386, CI= 0.999- 1.923). Patients with the TT genotype (no risk allele) exhibited a significantly better primary response rate, reached 87.5% compared to only 41.7% in patients carrying the risk allele C (TC + CC), (P= 0.04, OR= 9.8, CI=0.899- 106.84). The findings of this study prove the importance of investigating Y402H polymorphism as a prognostic marker for predicting response to bevacizumab in AMD patients. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=age-related%20macular%20degeneration" title="age-related macular degeneration">age-related macular degeneration</a>, <a href="https://publications.waset.org/abstracts/search?q=bevacizumab" title=" bevacizumab"> bevacizumab</a>, <a href="https://publications.waset.org/abstracts/search?q=complement%20factor%20H%20gene" title=" complement factor H gene"> complement factor H gene</a>, <a href="https://publications.waset.org/abstracts/search?q=polymorphism" title=" polymorphism"> polymorphism</a>, <a href="https://publications.waset.org/abstracts/search?q=Y402H" title=" Y402H"> Y402H</a> </p> <a href="https://publications.waset.org/abstracts/142631/prevalence-of-complement-factor-h-y402h-gene-polymorphism-and-its-impact-on-the-predisposition-of-syrians-to-age-related-macular-degeneration-amd-and-response-to-bevacizumab-intravitreal-injection" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/142631.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">156</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4053</span> Polymorphisms of the UM Genotype of CYP2C19*17 in Thais Taking Medical Cannabis</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Athicha%20Cherdpunt">Athicha Cherdpunt</a>, <a href="https://publications.waset.org/abstracts/search?q=Patompong%20Satapornpong"> Patompong Satapornpong</a> </p> <p class="card-text"><strong>Abstract:</strong></p> The medical cannabis is made up of components also known as cannabinoids, which consists of two ingredients which are Δ9-tetrahydrocannabinol (THC) and cannabidiol (CBD). Interestingly, the Cannabinoid can be used for many treatments such as chemotherapy, including nausea and vomiting, cachexia, anorexia nervosa, spinal cord injury and disease, epilepsy, pain, and many others. However, the adverse drug reactions (ADRs) of THC can cause sedation, anxiety, dizziness, appetite stimulation and impairments in driving and cognitive function. Furthermore, genetic polymorphisms of CYP2C9, CYP2C19 and CYP3A4 influenced the THC metabolism and might be a cause of ADRs. Particularly, CYP2C19*17 allele increases gene transcription and therefore results in ultra-rapid metabolizer phenotype (UM). The aim of this study, is to investigate the frequency of CYP2C19*17 alleles in Thai patients who have been treated with medical cannabis. We prospectively enrolled 60 Thai patients who were treated with medical cannabis and clinical data from College of Pharmacy, Rangsit University. DNA of each patient was isolated from EDTA blood, using the Genomic DNA Mini Kit. CYP2C19*17 genotyping was conducted using the real time-PCR ViiA7 (ABI, Foster City, CA, USA). 30 patients with medical cannabis-induced ADRs group, 20 (67%) were female, and 10 (33%) were male, with an age range of 30-69 years. On the other hand, 30 patients without medical cannabis-induced ADRs (control group) consist of 17 (57%) female and 13 (43%) male. The most ADRs for medical cannabis treatment in the case group were dry mouth and dry throat (77%), tachycardia (70%), nausea (30%) and arrhythmia(10%). Accordingly, the case group carried CYP2C19*1/*1 (normal metabolizer) approximately 93%, while 7% patients carrying CYP2C19*1/*17 (ultra rapid metabolizers) exhibited in this group. Meanwhile, we found 90% of CYP2C19*1/*1 and 10% of CYP2C19*1/*17 in control group. In this study, we identified the frequency of CYP2C19*17 allele in Thai population which will support the pharmacogenetics biomarkers for screening and avoid ADRs of medical cannabis treatment. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=CYP2C19" title="CYP2C19">CYP2C19</a>, <a href="https://publications.waset.org/abstracts/search?q=allele%20frequency" title=" allele frequency"> allele frequency</a>, <a href="https://publications.waset.org/abstracts/search?q=ultra%20rapid%20metabolizer" title=" ultra rapid metabolizer"> ultra rapid metabolizer</a>, <a href="https://publications.waset.org/abstracts/search?q=medical%20cannabis" title=" medical cannabis"> medical cannabis</a> </p> <a href="https://publications.waset.org/abstracts/148144/polymorphisms-of-the-um-genotype-of-cyp2c1917-in-thais-taking-medical-cannabis" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/148144.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">109</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4052</span> Important role of HLA-B*58:01 Allele and Distribution Among Healthy Thais: Avoid Severe Cutaneous Adverse Reactions</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Jaomai%20Tungsiripat">Jaomai Tungsiripat</a>, <a href="https://publications.waset.org/abstracts/search?q=Patompong%20Satapornpong"> Patompong Satapornpong</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Allopurinol have been used to treat diseases that relating with the reduction of uric acid and be a treatment preventing the severity of, including gout, chronic kidney disease, chronic heart failure, and diabetes mellitus (type 2). However, allopurinol metabolites can cause a severe cutaneous adverse reaction (SCARs) consist of Drug Rash with Eosinophilia and Systemic Symptoms (DRESS) and Stevens-Johnson Syndrome(SJS)/Toxic Epidermal Necrolysis (TEN). Previous studies, we found only HLA-B*58:01 allele has a strongly association with allopurinol-induced SCARs in many populations: Han Chinese [P value = 4.7 x 10−24], European [P value <10−6], and Thai [P value <0.001].However, there was no update the frequency of HLA-B alleles and pharmacogenetics markers distribution in healthy Thais and support for screening before the initiation of treatment. The aim of this study was to investigate the prevalence of HLA-B*58:01 allele associated with allopurinol-induced SCARs in healthy Thai population. A retrospective study of 260 individual healthy subjects who living in Thailand. HLA-B were genotyped using sequence-specific oligonucleotides (PCR-SSOs).In this study, we identified the prevalence of HLA-B alleles consist ofHLA-B*46:01 (12.69%), HLA-B*15:02 (8.85%), HLA-B*13:01 (6.35%), HLA-B*40:01 (6.35%), HLA-B*38:02 (5.00%), HLA-B*51:01 (5.00%), HLA-B*58:01 (4.81%), HLA-B*44:03 (4.62%), HLA-B*18:01 (3.85%) and HLA-B*15:25 (3.08%). Therefore, the distribution of HLA-B*58:01 will support the clinical implementation and screening usage of allopurinol in Thai population. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=allopurinol" title="allopurinol">allopurinol</a>, <a href="https://publications.waset.org/abstracts/search?q=HLA-B%2A58%3A%2001" title=" HLA-B*58: 01"> HLA-B*58: 01</a>, <a href="https://publications.waset.org/abstracts/search?q=Thai%20population" title=" Thai population"> Thai population</a>, <a href="https://publications.waset.org/abstracts/search?q=SCARs" title=" SCARs"> SCARs</a> </p> <a href="https://publications.waset.org/abstracts/146329/important-role-of-hla-b5801-allele-and-distribution-among-healthy-thais-avoid-severe-cutaneous-adverse-reactions" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/146329.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">140</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4051</span> Investigating Associations Between Genes Linked to Social Behavior and Early Covid-19 Spread Using Multivariate Linear Regression Analysis</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Gwenyth%20C.%20Eichfeld">Gwenyth C. Eichfeld</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Variation in global COVID-19 spread is partly explained by social and behavioral factors. Many of these behaviors are linked to genetics. The short polymorphism of the 5-HTTLPR promoter region of the SLC6A4 gene is linked to collectivism. The seven-repeat polymorphism of the DRD4 gene is linked to risk-taking, migration, sensation-seeking, and impulsivity. Fewer CAG repeats in the androgen receptor gene are linked to impulsivity. This study investigates an association between the country-level frequency of these variants and early Covid-19 spread. Results of regression analysis indicate a significant association between increased country-wide prevalence of the short allele of the SLC6A4 gene and decreased COVID-19 spread when other factors that have been linked to COVID-19 are controlled for. Additionally, results show that the short allele of the SLC6A4 gene is associated with COVID-19 spread through GDP and percent urbanization rather than collectivism. Results showed no significant association between the frequency of the DRD4 polymorphism nor the androgen receptor polymorphism with early COVID-19 spread. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=neuroscience" title="neuroscience">neuroscience</a>, <a href="https://publications.waset.org/abstracts/search?q=genetics" title=" genetics"> genetics</a>, <a href="https://publications.waset.org/abstracts/search?q=population%20sciences" title=" population sciences"> population sciences</a>, <a href="https://publications.waset.org/abstracts/search?q=Covid-19" title=" Covid-19"> Covid-19</a> </p> <a href="https://publications.waset.org/abstracts/188475/investigating-associations-between-genes-linked-to-social-behavior-and-early-covid-19-spread-using-multivariate-linear-regression-analysis" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/188475.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">36</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4050</span> Effects of the SNPS on rs855791 and rs3811647 on the Levels of SF and sTFR in the Group of 8-14</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Piao%20Wei">Piao Wei</a>, <a href="https://publications.waset.org/abstracts/search?q=Sun%20Jing"> Sun Jing</a>, <a href="https://publications.waset.org/abstracts/search?q=Huang%20Jian"> Huang Jian</a>, <a href="https://publications.waset.org/abstracts/search?q=Wang%20Lijuan"> Wang Lijuan</a>, <a href="https://publications.waset.org/abstracts/search?q=Tang%20Yanbin"> Tang Yanbin</a>, <a href="https://publications.waset.org/abstracts/search?q=Li%20Jin"> Li Jin</a>, <a href="https://publications.waset.org/abstracts/search?q=Huo%20Junsheng"> Huo Junsheng</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Objective: To investigate effects on the levels of SF and sTfR by the SNPs of rs855791on TMPRSS6 and rs3811647 on TF in adolescent. Methods: DNA was extracted from venous blood which were drawn from 50 subjects, and then the two SNPs of each sample were identified by Sequenom MassArray. T test and chi-square test were selected to identify the relationship between the levels of SF and sTfR in each allele carriers, and then the effects of each SNP on the levels of SF and sTfR would be assessed. Results: The level of SF of A allele carriers on rs855791 (54±28.2 ng/ml) was higher than GG carriers (33.1±20.2 ng/ml) (P<0.05), and the discrimination of the level of sTfR between each allele carrier was not observed (P>0.05); the discriminations of the different levels of SF and sTfR among each SNP on rs3811647 were not observed (P>0.05). Conclusions: The level of SF may be affected by the SNP of rs855791on TMPRSS6, and the effect of rs3811647 on TF may be weakened by the former one. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=SNP" title="SNP">SNP</a>, <a href="https://publications.waset.org/abstracts/search?q=SF" title=" SF"> SF</a>, <a href="https://publications.waset.org/abstracts/search?q=sTfR" title=" sTfR"> sTfR</a>, <a href="https://publications.waset.org/abstracts/search?q=adolescent" title=" adolescent"> adolescent</a> </p> <a href="https://publications.waset.org/abstracts/29950/effects-of-the-snps-on-rs855791-and-rs3811647-on-the-levels-of-sf-and-stfr-in-the-group-of-8-14" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/29950.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">575</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4049</span> Analysis of Mutation Associated with Male Infertility in Patients and Healthy Males in the Russian Population</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Svetlana%20Zhikrivetskaya">Svetlana Zhikrivetskaya</a>, <a href="https://publications.waset.org/abstracts/search?q=Nataliya%20Shirokova"> Nataliya Shirokova</a>, <a href="https://publications.waset.org/abstracts/search?q=Roman%20Bikanov"> Roman Bikanov</a>, <a href="https://publications.waset.org/abstracts/search?q=Elizaveta%20Musatova"> Elizaveta Musatova</a>, <a href="https://publications.waset.org/abstracts/search?q=Yana%20Kovaleva"> Yana Kovaleva</a>, <a href="https://publications.waset.org/abstracts/search?q=Nataliya%20Vetrova"> Nataliya Vetrova</a>, <a href="https://publications.waset.org/abstracts/search?q=Ekaterina%20Pomerantseva"> Ekaterina Pomerantseva</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Nowadays there is a growing number of couples with conceiving problems due to male or female infertility. Genetic abnormalities are responsible for about 31% of all cases of male infertility. These abnormalities include both chromosomal aberrations or aneuploidies and mutations in certain genes. Chromosomal abnormalities can be easily identified, thus the development of screening panels able to reveal genetic reasons of male infertility on gene level is of current interest. There are approximately 2,000 genes involved in male fertility that is the reason why it is very important to determine the most clinically relevant in certain population and ethnic conditions. An infertility screening panel containing 48 mutations in genes AMHR2, CFTR, DNAI1, HFE, KAL1, TSSK2 and AZF locus which are the most clinically relevant for the European population according to databases NCBI and ClinVar was designed. The aim of this research was to confirm clinic relevance of these mutations in the Russian population. Genotyping was performed in 220 patients with different types of male infertility and in 57 healthy males with normozoospermia. Mutations were identified by end-point PCR with TaqMan probes in microfluidic plates. The frequency of 5 mutations in healthy males and 13 mutations in patients with infertility was revealed and estimated. The frequency of mutation c.187C>G in HFE gene was significantly lower for healthy males (8.8%) compared with patients (17.7%) and the values for the European population according to ExAc database (13.7%) and dbSNP (17.2%). Analysis of c.3454G>C, and c.1545_1546delTA mutations in the CFTR gene revealed increased frequency (0.9 and 0.2%, respectively) in patients with infertility compared with data for the European population (0.04%, respectively (ExAc, European (Non-Finnish) and for the Aggregated Populations (0.002% (ExAc), because there is no data for European population for c.1545_1546delTA mutation. The frequency of del508 mutation (CFTR) in patients (1.59%) were lower comparing with male infertility Europeans (3.34-6.25% depending on nationality) and at the same level with healthy Europeans (1.06%, ExAc, European (Non-Finnish). Analysis of c.845G>A (HFE) mutation resulted in decreased frequency in patients (1.8%) in contrast with the European population data (5.1%, respectively, ExAc, European (Non-Finnish). Moreover, obtained data revealed no statistically significant frequency difference for c.845G>A mutation (HFE) between healthy males in the Russian and the European populations. Allele frequencies of mutations c.350G>A (CFTR), c.193A>T (HFE), c.774C>T, and c.80A>G (gene TSSK2) showed no significantly difference among patients with infertility, healthy males and Europeans. Analysis of AZF locus revealed increased frequency for AZFc microdeletion in patients with male infertility. Thereby, the new data of the allele frequencies in infertility patients in the Russian population was obtained. As well as the frequency differences of mutations associated with male infertility among patients, healthy males in the Russian population and the European one were estimated. The revealed differences showed that for high effectiveness of screening panel detecting genetically caused male infertility it is very important to consider ethnic and population characteristics of patients which will be screened. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=allele%20frequency" title="allele frequency">allele frequency</a>, <a href="https://publications.waset.org/abstracts/search?q=azoospermia" title=" azoospermia"> azoospermia</a>, <a href="https://publications.waset.org/abstracts/search?q=male%20infertility" title=" male infertility"> male infertility</a>, <a href="https://publications.waset.org/abstracts/search?q=mutation" title=" mutation"> mutation</a>, <a href="https://publications.waset.org/abstracts/search?q=population" title=" population"> population</a> </p> <a href="https://publications.waset.org/abstracts/59512/analysis-of-mutation-associated-with-male-infertility-in-patients-and-healthy-males-in-the-russian-population" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/59512.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">392</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4048</span> Association of Vascular Endothelial Growth Factor Gene +405 C>G and -460 T>C Polymorphism with Type 2 Diabetic Foot Ulcer Patient in Cipto Mangunkusumo National Hospital Jakarta </h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Dedy%20Pratama">Dedy Pratama</a>, <a href="https://publications.waset.org/abstracts/search?q=Akhmadu%20Muradi"> Akhmadu Muradi</a>, <a href="https://publications.waset.org/abstracts/search?q=Hilman%20Ibrahim"> Hilman Ibrahim</a>, <a href="https://publications.waset.org/abstracts/search?q=Raden%20Suhartono"> Raden Suhartono</a>, <a href="https://publications.waset.org/abstracts/search?q=Alexander%20Jayadi%20Utama"> Alexander Jayadi Utama</a>, <a href="https://publications.waset.org/abstracts/search?q=Patrianef%20Darwis"> Patrianef Darwis</a>, <a href="https://publications.waset.org/abstracts/search?q=S.%20Dwi%20Anita"> S. Dwi Anita</a>, <a href="https://publications.waset.org/abstracts/search?q=Luluk%20Yunaini"> Luluk Yunaini</a>, <a href="https://publications.waset.org/abstracts/search?q=Kemas%20Dahlan"> Kemas Dahlan</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Introduction: Vascular endothelial growth factor (VEGF) gene shows association with various angiogenesis conditions including Diabetic Foot Ulcer (DFU) disease. In this study, we performed this study to examine VEGF gene polymorphism associated with DFU. Methods: Case-control study of polymorphism of VEGF gene +405 C>G and -460 T>C, of diabetes mellitus (DM) type 2 with Diabetic Foot Ulcer (DFU) in Cipto Mangunkusumo National Hospital (RSCM) Jakarta from June to December 2016. Results: There were 203 patients, 102 patients with DFU and 101 patients without DFU. Forty-nine point 8 percent of total samples is male and 50,2% female with mean age 56,06 years. Distribution of the wild-type genotype VEGF +405 C>G wild type CC was found in 6,9% of respondents, the number of mutant heterozygote CG was 69,5% and mutant homozygote GG was 19,7%. Cumulatively, there were 6,9% wild-type and 85,2% mutant and 3,9% of total blood samples could not be detected on PCR-RFLP. Distribution of VEGF allele +405 C>G C alleles were 43% and G alleles were 57%. Distribution of genotype from VEGF gene -460 T>C is wild type TT 42,9%, mutant heterozygote TC 37,9% and mutant homozygote CC 13,3%. Cumulatively, there were 42,9% wild-type and 51% mutant type. Distribution of VEGF -460 T>C were 62% T allele and 38% C allele. Conclusion: In this study we found the distribution of alleles from VEGF +405 C>G is C 43% and G 57% and from VEGF -460 T>C; T 62% and C 38%. We propose that G allele in VEGF +405 C>G can act as a protective allele and on the other hands T allele in VEGF -460 T>C could be acted as a risk factor for DFU in diabetic patients. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=diabetic%20foot%20ulcer" title="diabetic foot ulcer">diabetic foot ulcer</a>, <a href="https://publications.waset.org/abstracts/search?q=diabetes%20mellitus" title=" diabetes mellitus"> diabetes mellitus</a>, <a href="https://publications.waset.org/abstracts/search?q=polymorphism" title=" polymorphism"> polymorphism</a>, <a href="https://publications.waset.org/abstracts/search?q=VEGF" title=" VEGF"> VEGF</a> </p> <a href="https://publications.waset.org/abstracts/65541/association-of-vascular-endothelial-growth-factor-gene-405-cg-and-460-tc-polymorphism-with-type-2-diabetic-foot-ulcer-patient-in-cipto-mangunkusumo-national-hospital-jakarta" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/65541.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">296</span> </span> </div> </div> <ul class="pagination"> <li class="page-item disabled"><span class="page-link">&lsaquo;</span></li> <li class="page-item active"><span class="page-link">1</span></li> <li class="page-item"><a class="page-link" href="https://publications.waset.org/abstracts/search?q=allele%20frequency&page=2">2</a></li> <li class="page-item"><a class="page-link" href="https://publications.waset.org/abstracts/search?q=allele%20frequency&page=3">3</a></li> <li class="page-item"><a class="page-link" href="https://publications.waset.org/abstracts/search?q=allele%20frequency&page=4">4</a></li> <li class="page-item"><a class="page-link" href="https://publications.waset.org/abstracts/search?q=allele%20frequency&page=5">5</a></li> <li class="page-item"><a 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