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Search results for: SLC47A1
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paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">1</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> </main> <footer> <div id="infolinks" class="pt-3 pb-2"> <div class="container"> <div style="background-color:#f5f5f5;" class="p-3"> <div class="row"> <div class="col-md-2"> <ul class="list-unstyled"> About <li><a href="https://waset.org/page/support">About Us</a></li> <li><a href="https://waset.org/page/support#legal-information">Legal</a></li> <li><a target="_blank" rel="nofollow" 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