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class="mw-content-ltr mw-parser-output" lang="en" dir="ltr"><div class="shortdescription nomobile noexcerpt noprint searchaux" style="display:none">Study of the role of genetic factors in determining health and disease</div> <p><b>Genetic epidemiology</b> is the study of the role of <a href="/wiki/Genetics" title="Genetics">genetic</a> factors in determining health and disease in families and in populations, and the interplay of such genetic factors with environmental factors. Genetic epidemiology seeks to derive a statistical and quantitative analysis of how genetics work in large groups.<sup id="cite_ref-:0_1-0" class="reference"><a href="#cite_note-:0-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Definition">Definition</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Genetic_epidemiology&action=edit&section=1" title="Edit section: Definition"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The use of the term <i>Genetic epidemiology</i> emerged in the mid-1980s as a new scientific field. </p><p>In formal language, genetic epidemiology was defined by <a href="/wiki/Newton_Morton" title="Newton Morton">Newton Morton</a>, one of the pioneers of the field, as "a science which deals with the <a href="/wiki/Etiology" title="Etiology">etiology</a>, distribution, and control of disease in groups of relatives and with inherited causes of disease in populations".<sup id="cite_ref-2" class="reference"><a href="#cite_note-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> It is closely allied to both <a href="/wiki/Molecular_epidemiology" title="Molecular epidemiology">molecular epidemiology</a> and <a href="/wiki/Statistical_genetics" title="Statistical genetics">statistical genetics</a>, but these overlapping fields each have distinct emphases, societies and journals.<sup id="cite_ref-:0_1-1" class="reference"><a href="#cite_note-:0-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> </p><p>One definition of the field closely follows that of <a href="/wiki/Behavioural_genetics" title="Behavioural genetics">behavior genetics</a>, defining genetic epidemiology as "the scientific discipline that deals with the analysis of the familial distribution of traits, with a view to understanding any possible genetic basis", and that "seeks to understand both the genetic and environmental factors and how they interact to produce various diseases and traits in humans".<sup id="cite_ref-3" class="reference"><a href="#cite_note-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> The <a href="/wiki/The_BMJ" title="The BMJ">British Medical Journal</a> adopts a similar definition, "Genetic epidemiology is the study of the aetiology, distribution, and control of disease in groups of relatives and of inherited causes of disease in populations."<sup id="cite_ref-4" class="reference"><a href="#cite_note-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="History">History</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Genetic_epidemiology&action=edit&section=2" title="Edit section: History"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>As early as the 4th century BC, <a href="/wiki/Hippocrates" title="Hippocrates">Hippocrates</a> suggested in his essay "On Airs, Waters, and Places" that factors such as behavior and environment may play a role in disease. Epidemiology entered a more systematic phase with the work of <a href="/wiki/John_Graunt" title="John Graunt">John Graunt</a>, who in 1662 tried to quantify mortality in London using a statistical approach, tabulating various factors he thought played a role in mortality rates. <a href="/wiki/John_Snow_(physician)" class="mw-redirect" title="John Snow (physician)">John Snow</a> is considered to be the father of epidemiology, and was the first to use statistics to discover and target the cause of disease, specifically of cholera outbreaks in 1854 in London. He investigated the cases of cholera and plotted them onto a map identifying the most likely cause of cholera, which was shown to be contaminated water wells.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (March 2023)">citation needed</span></a></i>]</sup> </p> <div class="mw-heading mw-heading3"><h3 id="Modern_history">Modern history</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Genetic_epidemiology&action=edit&section=3" title="Edit section: Modern history"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Modern genetics began on the foundation of <a href="/wiki/Gregor_Mendel" title="Gregor Mendel">Gregor Mendel</a>'s work. Once this became widely known, it spurred a revolution in studies of hereditary throughout the animal kingdom; with studies showing genetic transmission and control over characteristics and traits. As gene variation was shown to affect disease, work began on quantifying factors affecting disease, accelerating in the 20th century. The period since the second world war saw the greatest advancement of the field, with scientists such as <a href="/wiki/Newton_Morton" title="Newton Morton">Newton Morton</a> helping form the field of genetic epidemiology as it is known today, with the application of modern genetics to the statistical study of disease, as well as the establishment of large-scale epidemiological studies such as the <a href="/wiki/Framingham_Heart_Study" title="Framingham Heart Study">Framingham Heart Study</a>.<sup id="cite_ref-5" class="reference"><a href="#cite_note-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup> </p><p>In the 1960s and 1970s, epidemiology played a part in strategies for the worldwide eradication of naturally occurring smallpox.<sup id="cite_ref-6" class="reference"><a href="#cite_note-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Fundamentals">Fundamentals</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Genetic_epidemiology&action=edit&section=4" title="Edit section: Fundamentals"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Traditionally, the study of the role of genetics in disease progresses through the following study designs, each answering a slightly different question:<sup id="cite_ref-7" class="reference"><a href="#cite_note-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> </p> <ul><li><a href="/wiki/Familial_aggregation" class="mw-redirect" title="Familial aggregation">Familial aggregation</a> studies: Is there a genetic component to the disease, and what are the relative contributions of genes and environment?</li> <li><a href="/wiki/Genetic_segregation" class="mw-redirect" title="Genetic segregation">Segregation</a> studies: What is the <a href="/wiki/Dominance_relationship" class="mw-redirect" title="Dominance relationship">pattern of inheritance</a> of the disease (e.g. dominant or recessive)?</li> <li><a href="/wiki/Genetic_linkage" title="Genetic linkage">Linkage</a> studies: On which part of which <a href="/wiki/Chromosome" title="Chromosome">chromosome</a> is the disease gene located?</li> <li><a href="/wiki/Genetic_association" title="Genetic association">Association</a> studies: Which <a href="/wiki/Allele" title="Allele">allele</a> of which gene is associated with the disease?</li></ul> <p>This traditional approach has proved highly successful in identifying <a href="/wiki/Monogenic_disorder" class="mw-redirect" title="Monogenic disorder">monogenic disorders</a> and locating the genes responsible. </p><p>More recently, the scope of genetic epidemiology has expanded to include common diseases for which many genes each make a smaller contribution (<a href="/wiki/Polygenic_disorder" class="mw-redirect" title="Polygenic disorder">polygenic</a>, <a href="/wiki/Multifactorial_or_multigenic_disorder" class="mw-redirect" title="Multifactorial or multigenic disorder">multifactorial or multigenic disorders</a>). This has developed rapidly in the first decade of the 21st century following completion of the <a href="/wiki/Human_Genome_Project" title="Human Genome Project">Human Genome Project</a>, as advances in <a href="/wiki/Genotyping" title="Genotyping">genotyping</a> technology and associated reductions in cost has made it feasible to conduct large-scale <a href="/wiki/Genome-wide_association_study" title="Genome-wide association study">genome-wide association studies</a> that genotype many thousands of <a href="/wiki/Single_nucleotide_polymorphism" class="mw-redirect" title="Single nucleotide polymorphism">single nucleotide polymorphisms</a> in thousands of individuals. These have led to the discovery of many <a href="/wiki/Genetic_polymorphism" class="mw-redirect" title="Genetic polymorphism">genetic polymorphisms</a> that influence the risk of developing many common diseases. The genetic epidemiology can also be skewed by the presence of evolutionary pressures that induce negative selection during <a href="/wiki/Molecular_evolution" title="Molecular evolution">molecular evolution</a>. This negative selection can be determined by tracking the skewness of the distribution of mutations with putatively severe effects as compared to the distribution of mutations with putatively mild or absent effect.<sup id="cite_ref-8" class="reference"><a href="#cite_note-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Approaches">Approaches</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Genetic_epidemiology&action=edit&section=5" title="Edit section: Approaches"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Genetic epidemiological research follows 3 discrete steps, as outlined by M.Tevfik Dorak<b>:</b> </p> <ol><li>Establishing that there is a genetic component to the disorder.</li> <li>Establishing the relative size of that genetic effect in relation to other sources of variation in disease risk (environmental effects such as intrauterine environment, physical and chemical effects as well as behavioral and social aspects).</li> <li>Identifying the gene(s) responsible for the genetic component.</li></ol> <p>These research methodologies can be assessed through either family or population studies.<sup id="cite_ref-9" class="reference"><a href="#cite_note-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="See_also">See also</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Genetic_epidemiology&action=edit&section=6" title="Edit section: See also"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1184024115">.mw-parser-output .div-col{margin-top:0.3em;column-width:30em}.mw-parser-output .div-col-small{font-size:90%}.mw-parser-output .div-col-rules{column-rule:1px solid #aaa}.mw-parser-output .div-col dl,.mw-parser-output .div-col ol,.mw-parser-output .div-col ul{margin-top:0}.mw-parser-output .div-col li,.mw-parser-output .div-col dd{page-break-inside:avoid;break-inside:avoid-column}</style><div class="div-col" style="column-width: 40em;"> <ul><li><a href="/wiki/Epigenetics" title="Epigenetics">Epigenetics</a></li> <li><a href="/wiki/Genetic_disorder" title="Genetic disorder">Genetic disorder</a></li> <li><a href="/wiki/Mendelian_randomization" title="Mendelian randomization">Mendelian randomization</a></li> <li><a href="/wiki/Molecular_epidemiology" title="Molecular epidemiology">Molecular epidemiology</a></li> <li><a href="/wiki/Mutation" title="Mutation">Mutation</a></li> <li><a href="/wiki/Population_genetics" title="Population genetics">Population genetics</a></li> <li><a href="/wiki/Hardy%E2%80%93Weinberg_principle" title="Hardy–Weinberg principle">Hardy–Weinberg principle</a></li> <li><a href="/wiki/Population_groups_in_biomedicine" class="mw-redirect" title="Population groups in biomedicine">Population groups in biomedicine</a></li></ul> </div> <div class="mw-heading mw-heading2"><h2 id="References">References</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Genetic_epidemiology&action=edit&section=7" title="Edit section: References"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1239543626">.mw-parser-output .reflist{margin-bottom:0.5em;list-style-type:decimal}@media screen{.mw-parser-output .reflist{font-size:90%}}.mw-parser-output .reflist .references{font-size:100%;margin-bottom:0;list-style-type:inherit}.mw-parser-output .reflist-columns-2{column-width:30em}.mw-parser-output .reflist-columns-3{column-width:25em}.mw-parser-output .reflist-columns{margin-top:0.3em}.mw-parser-output .reflist-columns ol{margin-top:0}.mw-parser-output .reflist-columns li{page-break-inside:avoid;break-inside:avoid-column}.mw-parser-output .reflist-upper-alpha{list-style-type:upper-alpha}.mw-parser-output .reflist-upper-roman{list-style-type:upper-roman}.mw-parser-output .reflist-lower-alpha{list-style-type:lower-alpha}.mw-parser-output .reflist-lower-greek{list-style-type:lower-greek}.mw-parser-output .reflist-lower-roman{list-style-type:lower-roman}</style><div class="reflist"> <div class="mw-references-wrap"><ol class="references"> <li id="cite_note-:0-1"><span class="mw-cite-backlink">^ <a href="#cite_ref-:0_1-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-:0_1-1"><sup><i><b>b</b></i></sup></a></span> <span class="reference-text"><style data-mw-deduplicate="TemplateStyles:r1238218222">.mw-parser-output cite.citation{font-style:inherit;word-wrap:break-word}.mw-parser-output .citation q{quotes:"\"""\"""'""'"}.mw-parser-output .citation:target{background-color:rgba(0,127,255,0.133)}.mw-parser-output .id-lock-free.id-lock-free a{background:url("//upload.wikimedia.org/wikipedia/commons/6/65/Lock-green.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-limited.id-lock-limited a,.mw-parser-output .id-lock-registration.id-lock-registration a{background:url("//upload.wikimedia.org/wikipedia/commons/d/d6/Lock-gray-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-subscription.id-lock-subscription a{background:url("//upload.wikimedia.org/wikipedia/commons/a/aa/Lock-red-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .cs1-ws-icon a{background:url("//upload.wikimedia.org/wikipedia/commons/4/4c/Wikisource-logo.svg")right 0.1em center/12px no-repeat}body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-free a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-limited a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-registration a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-subscription a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .cs1-ws-icon a{background-size:contain;padding:0 1em 0 0}.mw-parser-output .cs1-code{color:inherit;background:inherit;border:none;padding:inherit}.mw-parser-output .cs1-hidden-error{display:none;color:var(--color-error,#d33)}.mw-parser-output .cs1-visible-error{color:var(--color-error,#d33)}.mw-parser-output .cs1-maint{display:none;color:#085;margin-left:0.3em}.mw-parser-output .cs1-kern-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right{padding-right:0.2em}.mw-parser-output .citation .mw-selflink{font-weight:inherit}@media screen{.mw-parser-output .cs1-format{font-size:95%}html.skin-theme-clientpref-night .mw-parser-output .cs1-maint{color:#18911f}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .cs1-maint{color:#18911f}}</style><cite id="CITEREFKhouryBeatyCohen1993" class="citation book cs1">Khoury, Muin J.; Beaty, Terri H.; Cohen, Bernice H. (1993-01-01). <a rel="nofollow" class="external text" href="https://books.google.com/books?id=VC7BAgAAQBAJ"><i>Fundamentals of Genetic Epidemiology</i></a>. Oxford University Press. <a href="/wiki/ISBN_(identifier)" class="mw-redirect" title="ISBN (identifier)">ISBN</a> <a href="/wiki/Special:BookSources/9780195052886" title="Special:BookSources/9780195052886"><bdi>9780195052886</bdi></a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=book&rft.btitle=Fundamentals+of+Genetic+Epidemiology&rft.pub=Oxford+University+Press&rft.date=1993-01-01&rft.isbn=9780195052886&rft.aulast=Khoury&rft.aufirst=Muin+J.&rft.au=Beaty%2C+Terri+H.&rft.au=Cohen%2C+Bernice+H.&rft_id=https%3A%2F%2Fbooks.google.com%2Fbooks%3Fid%3DVC7BAgAAQBAJ&rfr_id=info%3Asid%2Fen.wikipedia.org%3AGenetic+epidemiology" class="Z3988"></span></span> </li> <li id="cite_note-2"><span class="mw-cite-backlink"><b><a href="#cite_ref-2">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFMorton1982" class="citation book cs1">Morton, N. E. (1982). <i>Outline of Genetic Epidemiology</i>. New York: Karger. <a href="/wiki/ISBN_(identifier)" class="mw-redirect" title="ISBN (identifier)">ISBN</a> <a href="/wiki/Special:BookSources/978-3-8055-2269-4" title="Special:BookSources/978-3-8055-2269-4"><bdi>978-3-8055-2269-4</bdi></a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=book&rft.btitle=Outline+of+Genetic+Epidemiology&rft.place=New+York&rft.pub=Karger&rft.date=1982&rft.isbn=978-3-8055-2269-4&rft.aulast=Morton&rft.aufirst=N.+E.&rfr_id=info%3Asid%2Fen.wikipedia.org%3AGenetic+epidemiology" class="Z3988"></span></span> </li> <li id="cite_note-3"><span class="mw-cite-backlink"><b><a href="#cite_ref-3">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation web cs1"><a rel="nofollow" class="external text" href="https://web.archive.org/web/20150722032231/http://www.biostat.wustl.edu/gems/definition.shtml">"Genetic Epidemiology Defined"</a>. <i>www.biostat.wustl.edu</i>. Archived from <a rel="nofollow" class="external text" href="http://www.biostat.wustl.edu/gems/definition.shtml">the original</a> on 2015-07-22<span class="reference-accessdate">. Retrieved <span class="nowrap">2016-02-07</span></span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=unknown&rft.jtitle=www.biostat.wustl.edu&rft.atitle=Genetic+Epidemiology+Defined&rft_id=http%3A%2F%2Fwww.biostat.wustl.edu%2Fgems%2Fdefinition.shtml&rfr_id=info%3Asid%2Fen.wikipedia.org%3AGenetic+epidemiology" class="Z3988"></span></span> </li> <li id="cite_note-4"><span class="mw-cite-backlink"><b><a href="#cite_ref-4">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFKaprio2000" class="citation journal cs1">Kaprio, Jaakko (2000-05-06). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1117994">"Genetic epidemiology"</a>. <i><a href="/wiki/The_BMJ" title="The BMJ">British Medical Journal</a></i>. <b>320</b> (7244): 1257–1259. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1136%2Fbmj.320.7244.1257">10.1136/bmj.320.7244.1257</a>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/0959-8138">0959-8138</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1117994">1117994</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/10797040">10797040</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=British+Medical+Journal&rft.atitle=Genetic+epidemiology&rft.volume=320&rft.issue=7244&rft.pages=1257-1259&rft.date=2000-05-06&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC1117994%23id-name%3DPMC&rft.issn=0959-8138&rft_id=info%3Apmid%2F10797040&rft_id=info%3Adoi%2F10.1136%2Fbmj.320.7244.1257&rft.aulast=Kaprio&rft.aufirst=Jaakko&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC1117994&rfr_id=info%3Asid%2Fen.wikipedia.org%3AGenetic+epidemiology" class="Z3988"></span></span> </li> <li id="cite_note-5"><span class="mw-cite-backlink"><b><a href="#cite_ref-5">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation book cs1"><i>Principles of Epidemiology in Public Health Practice - An Introduction to Applied Epidemiology and Biostatistics</i>. 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"Epidemiology in the Global Eradication of Smallpox". <i>International Journal of Epidemiology</i>. <b>1</b> (1): 25–30. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1093%2Fije%2F1.1.25">10.1093/ije/1.1.25</a>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/0300-5771">0300-5771</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/4669176">4669176</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=International+Journal+of+Epidemiology&rft.atitle=Epidemiology+in+the+Global+Eradication+of+Smallpox&rft.volume=1&rft.issue=1&rft.pages=25-30&rft.date=1972-03-20&rft.issn=0300-5771&rft_id=info%3Apmid%2F4669176&rft_id=info%3Adoi%2F10.1093%2Fije%2F1.1.25&rft.aulast=Henderson&rft.aufirst=D.+A.&rfr_id=info%3Asid%2Fen.wikipedia.org%3AGenetic+epidemiology" class="Z3988"></span></span> </li> <li id="cite_note-7"><span class="mw-cite-backlink"><b><a href="#cite_ref-7">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFM._Tevfik_Dorak2008" class="citation web cs1">M. Tevfik Dorak (2008-03-03). <a rel="nofollow" class="external text" href="http://www.dorak.info/epi/genetepi.html">"Introduction to Genetic Epidemiology"</a><span class="reference-accessdate">. Retrieved <span class="nowrap">2008-03-04</span></span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=unknown&rft.btitle=Introduction+to+Genetic+Epidemiology&rft.date=2008-03-03&rft.au=M.+Tevfik+Dorak&rft_id=http%3A%2F%2Fwww.dorak.info%2Fepi%2Fgenetepi.html&rfr_id=info%3Asid%2Fen.wikipedia.org%3AGenetic+epidemiology" class="Z3988"></span></span> </li> <li id="cite_note-8"><span class="mw-cite-backlink"><b><a href="#cite_ref-8">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFSimcikovaHeneberg2019" class="citation journal cs1">Simcikova D, Heneberg P (December 2019). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6901466">"Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases"</a>. <i>Scientific Reports</i>. <b>9</b> (1): 18577. <a href="/wiki/Bibcode_(identifier)" class="mw-redirect" title="Bibcode (identifier)">Bibcode</a>:<a rel="nofollow" class="external text" href="https://ui.adsabs.harvard.edu/abs/2019NatSR...918577S">2019NatSR...918577S</a>. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1038%2Fs41598-019-54976-4">10.1038/s41598-019-54976-4</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6901466">6901466</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/31819097">31819097</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Scientific+Reports&rft.atitle=Refinement+of+evolutionary+medicine+predictions+based+on+clinical+evidence+for+the+manifestations+of+Mendelian+diseases&rft.volume=9&rft.issue=1&rft.pages=18577&rft.date=2019-12&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC6901466%23id-name%3DPMC&rft_id=info%3Apmid%2F31819097&rft_id=info%3Adoi%2F10.1038%2Fs41598-019-54976-4&rft_id=info%3Abibcode%2F2019NatSR...918577S&rft.aulast=Simcikova&rft.aufirst=D&rft.au=Heneberg%2C+P&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC6901466&rfr_id=info%3Asid%2Fen.wikipedia.org%3AGenetic+epidemiology" class="Z3988"></span></span> </li> <li id="cite_note-9"><span class="mw-cite-backlink"><b><a href="#cite_ref-9">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation web cs1"><a rel="nofollow" class="external text" href="http://www.dorak.info/epi/genetepi.html">"INTRODUCTION TO GENETIC EPIDEMIOLOGY [M.Tevfik DORAK]"</a>. <i>www.dorak.info</i><span class="reference-accessdate">. Retrieved <span class="nowrap">2016-02-07</span></span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=unknown&rft.jtitle=www.dorak.info&rft.atitle=INTRODUCTION+TO+GENETIC+EPIDEMIOLOGY+%5BM.Tevfik+DORAK%5D&rft_id=http%3A%2F%2Fwww.dorak.info%2Fepi%2Fgenetepi.html&rfr_id=info%3Asid%2Fen.wikipedia.org%3AGenetic+epidemiology" class="Z3988"></span></span> </li> </ol></div></div> <div class="mw-heading mw-heading2"><h2 id="Further_reading">Further reading</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Genetic_epidemiology&action=edit&section=8" title="Edit section: Further reading"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1239549316">.mw-parser-output .refbegin{margin-bottom:0.5em}.mw-parser-output .refbegin-hanging-indents>ul{margin-left:0}.mw-parser-output .refbegin-hanging-indents>ul>li{margin-left:0;padding-left:3.2em;text-indent:-3.2em}.mw-parser-output .refbegin-hanging-indents ul,.mw-parser-output .refbegin-hanging-indents ul li{list-style:none}@media(max-width:720px){.mw-parser-output .refbegin-hanging-indents>ul>li{padding-left:1.6em;text-indent:-1.6em}}.mw-parser-output .refbegin-columns{margin-top:0.3em}.mw-parser-output .refbegin-columns ul{margin-top:0}.mw-parser-output .refbegin-columns li{page-break-inside:avoid;break-inside:avoid-column}@media screen{.mw-parser-output .refbegin{font-size:90%}}</style><div class="refbegin" style=""> <ul><li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFKhoury,_M.J.Beaty,_T.H.Cohen,_B.H.1993" class="citation book cs1">Khoury, M.J.; Beaty, T.H.; Cohen, B.H. (1993). <i>Fundamentals of genetic epidemiology</i>. New York: Oxford University Press. <a href="/wiki/ISBN_(identifier)" class="mw-redirect" title="ISBN (identifier)">ISBN</a> <a href="/wiki/Special:BookSources/978-0-19-505288-6" title="Special:BookSources/978-0-19-505288-6"><bdi>978-0-19-505288-6</bdi></a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=book&rft.btitle=Fundamentals+of+genetic+epidemiology&rft.place=New+York&rft.pub=Oxford+University+Press&rft.date=1993&rft.isbn=978-0-19-505288-6&rft.au=Khoury%2C+M.J.&rft.au=Beaty%2C+T.H.&rft.au=Cohen%2C+B.H.&rfr_id=info%3Asid%2Fen.wikipedia.org%3AGenetic+epidemiology" class="Z3988"></span></li> <li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFMortonChung1978" class="citation book cs1">Morton, Newton E; Chung, Chin Sik, eds. (1978). <a rel="nofollow" class="external text" href="https://archive.org/details/geneticepidemiol00mort"><i>Genetic Epidemiology</i></a>. New York: Academic Press. <a href="/wiki/ISBN_(identifier)" class="mw-redirect" title="ISBN (identifier)">ISBN</a> <a href="/wiki/Special:BookSources/978-0-12-508050-7" title="Special:BookSources/978-0-12-508050-7"><bdi>978-0-12-508050-7</bdi></a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=book&rft.btitle=Genetic+Epidemiology&rft.place=New+York&rft.pub=Academic+Press&rft.date=1978&rft.isbn=978-0-12-508050-7&rft_id=https%3A%2F%2Farchive.org%2Fdetails%2Fgeneticepidemiol00mort&rfr_id=info%3Asid%2Fen.wikipedia.org%3AGenetic+epidemiology" class="Z3988"></span></li> <li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFMorton,_N.E.1997" class="citation journal cs1">Morton, N.E. (1997). <a rel="nofollow" class="external text" href="http://linkage.rockefeller.edu/wli/reading/morton97.pdf">"Genetic Epidemiology"</a> <span class="cs1-format">(PDF)</span>. <i><a href="/wiki/Annals_of_Human_Genetics" title="Annals of Human Genetics">Annals of Human Genetics</a></i>. <b>61</b> (1): 1–13. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1086%2F513911">10.1086/513911</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1715876">1715876</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/9245975">9245975</a><span class="reference-accessdate">. Retrieved <span class="nowrap">15 June</span> 2010</span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Annals+of+Human+Genetics&rft.atitle=Genetic+Epidemiology&rft.volume=61&rft.issue=1&rft.pages=1-13&rft.date=1997&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC1715876%23id-name%3DPMC&rft_id=info%3Apmid%2F9245975&rft_id=info%3Adoi%2F10.1086%2F513911&rft.au=Morton%2C+N.E.&rft_id=http%3A%2F%2Flinkage.rockefeller.edu%2Fwli%2Freading%2Fmorton97.pdf&rfr_id=info%3Asid%2Fen.wikipedia.org%3AGenetic+epidemiology" class="Z3988"></span></li> <li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFKhouryLittleBurke2003" class="citation book cs1">Khoury, Muin J.; Little, Julian; Burke, Wylie, eds. (2003). <a rel="nofollow" class="external text" href="https://archive.org/details/humangenomeepide00muin"><i>Human Genome Epidemiology: A scientific foundation for using genetic information to improve health and prevent disease</i></a>. Oxford University Press. <a href="/wiki/ISBN_(identifier)" class="mw-redirect" title="ISBN (identifier)">ISBN</a> <a href="/wiki/Special:BookSources/978-0-19-514674-5" title="Special:BookSources/978-0-19-514674-5"><bdi>978-0-19-514674-5</bdi></a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=book&rft.btitle=Human+Genome+Epidemiology%3A+A+scientific+foundation+for+using+genetic+information+to+improve+health+and+prevent+disease&rft.pub=Oxford+University+Press&rft.date=2003&rft.isbn=978-0-19-514674-5&rft_id=https%3A%2F%2Farchive.org%2Fdetails%2Fhumangenomeepide00muin&rfr_id=info%3Asid%2Fen.wikipedia.org%3AGenetic+epidemiology" class="Z3988"></span></li> <li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFSpence2005" class="citation book cs1">Spence, M. A. (2005). "Genetic Epidemiology". <i>Encyclopedia of Biostatistics</i>. Wiley Interscience. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1002%2F0470011815.b2a05034">10.1002/0470011815.b2a05034</a>. <a href="/wiki/ISBN_(identifier)" class="mw-redirect" title="ISBN (identifier)">ISBN</a> <a href="/wiki/Special:BookSources/978-0470849071" title="Special:BookSources/978-0470849071"><bdi>978-0470849071</bdi></a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=bookitem&rft.atitle=Genetic+Epidemiology&rft.btitle=Encyclopedia+of+Biostatistics&rft.pub=Wiley+Interscience&rft.date=2005&rft_id=info%3Adoi%2F10.1002%2F0470011815.b2a05034&rft.isbn=978-0470849071&rft.aulast=Spence&rft.aufirst=M.+A.&rfr_id=info%3Asid%2Fen.wikipedia.org%3AGenetic+epidemiology" class="Z3988"></span></li> <li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFThomas2004" class="citation book cs1">Thomas, D.C. (2004). <a rel="nofollow" class="external text" href="http://www.oup.com/uk/catalogue/?ci=9780195159394"><i>Statistical Methods in Genetic Epidemiology</i></a>. Oxford University Press. <a href="/wiki/ISBN_(identifier)" class="mw-redirect" title="ISBN (identifier)">ISBN</a> <a href="/wiki/Special:BookSources/978-0-19-515939-4" title="Special:BookSources/978-0-19-515939-4"><bdi>978-0-19-515939-4</bdi></a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=book&rft.btitle=Statistical+Methods+in+Genetic+Epidemiology&rft.pub=Oxford+University+Press&rft.date=2004&rft.isbn=978-0-19-515939-4&rft.aulast=Thomas&rft.aufirst=D.C.&rft_id=http%3A%2F%2Fwww.oup.com%2Fuk%2Fcatalogue%2F%3Fci%3D9780195159394&rfr_id=info%3Asid%2Fen.wikipedia.org%3AGenetic+epidemiology" class="Z3988"></span><sup class="noprint Inline-Template"><span style="white-space: nowrap;">[<i><a href="/wiki/Wikipedia:Link_rot" title="Wikipedia:Link rot"><span title=" Dead link tagged February 2022">permanent dead link</span></a></i><span style="visibility:hidden; color:transparent; padding-left:2px">‍</span>]</span></sup></li> <li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFTeare2011" class="citation book cs1">Teare, M.D. (2011). <i>Genetic Epidemiology</i>. Springer. <a href="/wiki/ISBN_(identifier)" class="mw-redirect" title="ISBN (identifier)">ISBN</a> <a href="/wiki/Special:BookSources/978-1-60327-415-9" title="Special:BookSources/978-1-60327-415-9"><bdi>978-1-60327-415-9</bdi></a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=book&rft.btitle=Genetic+Epidemiology&rft.pub=Springer&rft.date=2011&rft.isbn=978-1-60327-415-9&rft.aulast=Teare&rft.aufirst=M.D.&rfr_id=info%3Asid%2Fen.wikipedia.org%3AGenetic+epidemiology" class="Z3988"></span></li></ul> </div> <div class="mw-heading mw-heading2"><h2 id="External_links">External links</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Genetic_epidemiology&action=edit&section=9" title="Edit section: External links"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1235681985">.mw-parser-output .side-box{margin:4px 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