The adaptive variant EDARV370A is associated with straight hair in East Asians
The adaptive variant EDARV370A is associated with straight hair in East Asians
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适应性变体 EDARV370A 与东亚人的直发有关
DOI：
10.1007/s00439-013-1324-1
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发表时间：
2013-06
期刊：
影响因子：
5.3
通讯作者：
Sijia Wang#
中科院分区：
文献类型：
--
作者：
Jingze Tan*;Yajun Yang*;Kun Tang;Pardis C Sabeti#;Li Jin#;Sijia Wang#
在人类群体中，头发直立/卷曲是一种高度可遗传的特征。之前的研究已经报道了欧洲特有的影响头发直度的基因变异，但东亚人的基因变异尚不清楚。一个有希望的候选基因是外周血型异常蛋白A受体(EDAR)的衍生编码变异体EDARV370A(370A)，与表皮附属物的几个表型变化相关。人类基因组中最强烈的自然选择信号之一，370A，在东亚和美洲原住民中已经上升到很高的流行率，而在欧洲人和非洲人中几乎没有。这种惊人的频率分布和370A的多效性让我们追寻另一种与表皮附属物相关的表型--头发直度是否会受到这种变异的影响。通过对东亚四个不同人群(汉族、藏族、蒙古族和黎族)的1718名个体的研究，我们发现370A与汉族(p=2.90×10(-6))、藏族(p=3.07×10(-2))和蒙古族(p=1.03×10(-5))的直毛型有显著的相关性。综合所有样本，关联性更强(p=5.18×10(-10))。370A对头发直度的影响是相加的，优势比为2.05。这些结果表明，在欧洲和亚洲，直发的生物学机制非常不同，也呈现了更全面的370A表型后果的图景，为了解这种特殊遗传变异的潜在适应力量的进化提供了重要线索。
Hair straightness/curliness is a highly heritable trait amongst human populations. Previous studies have reported European specific genetic variants influencing hair straightness, but those in East Asians remain unknown. One promising candidate is a derived coding variant of the ectodysplasin A receptor (EDAR), EDARV370A (370A), associated with several phenotypic changes of epidermal appendages. One of the strongest signals of natural selection in human genomes, 370A, has risen to high prevalence in East Asian and Native American populations, whilst being almost absent in Europeans and Africans. This striking frequency distribution and the pleiotropic nature of 370A led us to pursue if hair straightness, another epidermal appendage-related phenotype, is affected by this variant. By studying 1,718 individuals from four distinctive East Asian populations (Han, Tibetan, Mongolian, and Li), we found a significant association between 370A and the straight hair type in the Han (p = 2.90 × 10(-6)), Tibetan (p = 3.07 × 10(-2)), and Mongolian (p = 1.03 × 10(-5)) populations. Combining all the samples, the association is even stronger (p = 5.18 × 10(-10)). The effect of 370A on hair straightness is additive, with an odds ratio of 2.05. The results indicate very different biological mechanisms of straight hair in Europe and Asia, and also present a more comprehensive picture of the phenotypic consequences of 370A, providing important clues into the potential adaptive forces shaping the evolution of this extraordinary genetic variant.
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影响因子：
1.9
作者：
Hitsch, Guenter J.;Hortacsu, Ali;Ariely, Dan
通讯作者：
Ariely, Dan
DOI：
10.2139/ssrn.895442
发表时间：
2006-02
期刊：
eBusiness & eCommerce
影响因子：
--
作者：
Günter J. Hitsch;Ali Hortaçsu;D. Ariely
通讯作者：
Günter J. Hitsch;Ali Hortaçsu;D. Ariely
影响因子：
0.9
作者：
S. Medland;G. Zhu;N. Martin
通讯作者：
S. Medland;G. Zhu;N. Martin
DOI：
10.3410/f.1094912.549862
发表时间：
2007
期刊：
--
影响因子：
--
作者：
D. Ballinger;D. Hinds;Andrew Boudreau;Suzanne M. Leal;S. Pasternak;David A. Wheeler;Thomas D. Willis-Thomas-D.
通讯作者：
D. Ballinger;D. Hinds;Andrew Boudreau;Suzanne M. Leal;S. Pasternak;David A. Wheeler;Thomas D. Willis-Thomas-D.
影响因子：
56.9
作者：
Grossman, Sharon R.;Shylakhter, Ilya;Sabeti, Pardis C.
通讯作者：
Sabeti, Pardis C.