View source for GWAS study on 10,000 Korean people 20090426

<p id="cite"><span class="journalname">Nature Genetics</span> Published online: 26 April 2009&nbsp; (한국인 10,000 명 코호트를 이용한 유전체와 발현형질 연관연구)</p>
<h2 id="atl">A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits</h2>
<p id="aug">Yoon Shin Cho<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a1"><font color="#0066cc">1</font></a></sup>, Min Jin Go<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a1"><font color="#0066cc">1</font></a></sup>, Young Jin Kim<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a1"><font color="#0066cc">1</font></a></sup>, Jee Yeon Heo<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a1"><font color="#0066cc">1</font></a></sup>, Ji Hee Oh<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a1"><font color="#0066cc">1</font></a></sup>, Hyo-Jeong Ban<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a1"><font color="#0066cc">1</font></a></sup>, Dankyu Yoon<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a2"><font color="#0066cc">2</font></a></sup>, Mi Hee Lee<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a1"><font color="#0066cc">1</font></a></sup>, Dong-Joon Kim<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a1"><font color="#0066cc">1</font></a></sup>, Miey Park<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a1"><font color="#0066cc">1</font></a></sup>, Seung-Hun Cha<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a1"><font color="#0066cc">1</font></a></sup>, Jun-Woo Kim<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a1"><font color="#0066cc">1</font></a></sup>, Bok-Ghee Han<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a1"><font color="#0066cc">1</font></a></sup>, Haesook Min<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a1"><font color="#0066cc">1</font></a></sup>, Younjhin Ahn<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a1"><font color="#0066cc">1</font></a></sup>, Man Suk Park<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a1"><font color="#0066cc">1</font></a></sup>, Hye Ree Han<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a1"><font color="#0066cc">1</font></a></sup>, Hye-Yoon Jang<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a3"><font color="#0066cc">3</font></a></sup>, Eun Young Cho<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a3"><font color="#0066cc">3</font></a></sup>, Jong-Eun Lee<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a3"><font color="#0066cc">3</font></a></sup>, Nam H Cho<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a4"><font color="#0066cc">4</font></a></sup>, Chol Shin<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a5"><font color="#0066cc">5</font></a></sup>, Taesung Park<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a2"><font color="#0066cc">2</font></a>,</sup><sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a6"><font color="#0066cc">6</font></a></sup>, Ji Wan Park<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a7"><font color="#0066cc">7</font></a></sup>, Jong-Keuk Lee<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a8"><font color="#0066cc">8</font></a></sup>, Lon Cardon<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a9"><font color="#0066cc">9</font></a></sup>, Geraldine Clarke<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a10"><font color="#0066cc">10</font></a></sup>, Mark I McCarthy<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a10"><font color="#0066cc">10</font></a>,</sup><sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a11"><font color="#0066cc">11</font></a></sup>, Jong-Young Lee<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a1"><font color="#0066cc">1</font></a></sup>, Jong-Koo Lee<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a12"><font color="#0066cc">12</font></a></sup>, Bermseok Oh<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a1"><font color="#0066cc">1</font></a>,</sup><sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a13"><font color="#0066cc">13</font></a></sup> &amp; Hyung-Lae Kim<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a1"><font color="#0066cc">1</font></a></sup></p>
<p class="caff"><font color="#0066cc"></font></p>
<font color="#0066cc"><hr class="separator" />
</font>
<div id="abs">
<h3 class="hidden">Abstract</h3>
<p class="lead">To identify genetic factors influencing quantitative traits of biomedical importance, we conducted a genome-wide association study in 8,842 samples from population-based cohorts recruited in Korea. For height and body mass index, most variants detected overlapped those reported in European samples. For the other traits examined, replication of promising GWAS signals in 7,861 independent Korean samples identified six previously unknown loci. For pulse rate, signals reaching genome-wide significance mapped to chromosomes 1q32 (rs12731740, <em>P</em> = 2.9 <img style="BORDER-RIGHT: 0pt; BORDER-TOP: 0pt; VERTICAL-ALIGN: middle; BORDER-LEFT: 0pt; BORDER-BOTTOM: 0pt" alt="times" src="http://www.nature.com/__chars/math/special/times/black/med/base/glyph.gif" /> 10<sup>-9</sup>) and 6q22 (rs12110693, <em>P</em> = 1.6 <img style="BORDER-RIGHT: 0pt; BORDER-TOP: 0pt; VERTICAL-ALIGN: middle; BORDER-LEFT: 0pt; BORDER-BOTTOM: 0pt" alt="times" src="http://www.nature.com/__chars/math/special/times/black/med/base/glyph.gif" /> 10<sup>-9</sup>), with the latter <img style="BORDER-RIGHT: 0pt; BORDER-TOP: 0pt; VERTICAL-ALIGN: baseline; BORDER-LEFT: 0pt; BORDER-BOTTOM: 0pt" alt="approx" src="http://www.nature.com/__chars/math/special/sim/black/med/base/glyph.gif" />400 kb from the coding sequence of <em>GJA1</em>. For systolic blood pressure, the most compelling association involved chromosome 12q21 and variants near the <em>ATP2B1</em> gene (rs17249754, <em>P</em> = 1.3 <img style="BORDER-RIGHT: 0pt; BORDER-TOP: 0pt; VERTICAL-ALIGN: middle; BORDER-LEFT: 0pt; BORDER-BOTTOM: 0pt" alt="times" src="http://www.nature.com/__chars/math/special/times/black/med/base/glyph.gif" /> 10<sup>-7</sup>). For waist-hip ratio, variants on chromosome 12q24 (rs2074356, <em>P</em> = 7.8 <img style="BORDER-RIGHT: 0pt; BORDER-TOP: 0pt; VERTICAL-ALIGN: middle; BORDER-LEFT: 0pt; BORDER-BOTTOM: 0pt" alt="times" src="http://www.nature.com/__chars/math/special/times/black/med/base/glyph.gif" /> 10<sup>-12</sup>) showed convincing associations, although no regional transcript has strong biological candidacy. Finally, we identified two loci influencing bone mineral density at multiple sites. On chromosome 7q31, rs7776725 (within the <em>FAM3C</em> gene) was associated with bone density at the radius (<em>P</em> = 1.0 <img style="BORDER-RIGHT: 0pt; BORDER-TOP: 0pt; VERTICAL-ALIGN: middle; BORDER-LEFT: 0pt; BORDER-BOTTOM: 0pt" alt="times" src="http://www.nature.com/__chars/math/special/times/black/med/base/glyph.gif" /> 10<sup>-11</sup>), tibia (<em>P</em> = 1.6 <img style="BORDER-RIGHT: 0pt; BORDER-TOP: 0pt; VERTICAL-ALIGN: middle; BORDER-LEFT: 0pt; BORDER-BOTTOM: 0pt" alt="times" src="http://www.nature.com/__chars/math/special/times/black/med/base/glyph.gif" /> 10<sup>-6</sup>) and heel (<em>P</em> = 1.9 <img style="BORDER-RIGHT: 0pt; BORDER-TOP: 0pt; VERTICAL-ALIGN: middle; BORDER-LEFT: 0pt; BORDER-BOTTOM: 0pt" alt="times" src="http://www.nature.com/__chars/math/special/times/black/med/base/glyph.gif" /> 10<sup>-10</sup>). On chromosome 7p14, rs1721400 (mapping close to <em>SFRP4</em>, a frizzled protein gene) showed consistent associations at the same three sites (<em>P</em> = 2.2 <img style="BORDER-RIGHT: 0pt; BORDER-TOP: 0pt; VERTICAL-ALIGN: middle; BORDER-LEFT: 0pt; BORDER-BOTTOM: 0pt" alt="times" src="http://www.nature.com/__chars/math/special/times/black/med/base/glyph.gif" /> 10<sup>-3</sup>, <em>P</em> = 1.4 <img style="BORDER-RIGHT: 0pt; BORDER-TOP: 0pt; VERTICAL-ALIGN: middle; BORDER-LEFT: 0pt; BORDER-BOTTOM: 0pt" alt="times" src="http://www.nature.com/__chars/math/special/times/black/med/base/glyph.gif" /> 10<sup>-7</sup> and <em>P</em> = 6.0 <img style="BORDER-RIGHT: 0pt; BORDER-TOP: 0pt; VERTICAL-ALIGN: middle; BORDER-LEFT: 0pt; BORDER-BOTTOM: 0pt" alt="times" src="http://www.nature.com/__chars/math/special/times/black/med/base/glyph.gif" /> 10<sup>-4</sup>, respectively). This large-scale GWA analysis of well-characterized Korean population-based samples highlights previously unknown biological pathways.</p>
</div>
<a class="backtotop" href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#top"><font color="#0066cc">Top<span class="hidden"> of page</span></font></a><font color="#0066cc"><hr class="separator" />
</font>
<div class="aff-bottom" id="affiliations-notes">
<ol class="decimal">
    <li id="a1">Center for Genome Science, National Institute of Health, Seoul, Korea. </li>
    <li id="a2">Interdisciplinary Program in Bioinformatics, Seoul National University, Seoul, Korea. </li>
    <li id="a3">DNA Link, Seoul, Korea. </li>
    <li id="a4">Department of Preventive Medicine, Ajou University School of Medicine, Suwon, Korea. </li>
    <li id="a5">Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, Korea University Ansan Hospital, Ansan, Korea. </li>
    <li id="a6">Department of Statistics, College of Natural Science, Seoul National University, Seoul, Korea. </li>
    <li id="a7">Department of Medical Genetics, Hallym University, College of Medicine, Chuncheon, Korea. </li>
    <li id="a8">Asan Institute for Life Sciences, University of Ulsan College of Medicine, Seoul, Korea. </li>
    <li id="a9">GlaxoSmithKline, Philadelphia, Pennsylvania, USA. </li>
    <li id="a10">Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK. </li>
    <li id="a11">Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK. </li>
    <li id="a12">Korea Centers for Disease Control and Prevention, Seoul, Korea. </li>
    <li id="a13">Department of Biomedical Engineering, School of Medicine, Kyung Hee University, Seoul, Korea. </li>
</ol>
<p class="caff">Correspondence to: Hyung-Lae Kim<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a1"><font color="#0066cc">1</font></a></sup> e-mail:&nbsp;<a href="mailto:hyung505@nih.go.kr"><font color="#0066cc">hyung505@nih.go.kr</font></a> </p>
<p class="caff">Correspondence to: Bermseok Oh<sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a1"><font color="#0066cc">1</font></a>,</sup><sup><a title="affiliated with " href="http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.357.html#a13"><font color="#0066cc">13</font></a></sup> e-mail:&nbsp;<a href="mailto:ohbs@khu.ac.kr"><font color="#0066cc">ohbs@khu.ac.kr</font></a> </p>
</div>