Genome-wide scans reveal variants at EDAR predominantly affecting hair straightness in Han Chinese and Uyghur populations

doi:10.1007/s00439-016-1718-y

	Genome-wide scans reveal variants at EDAR predominantly affecting hair straightness in Han Chinese and Uyghur populations
	Wu, Sijie 1; Tan, Jingze 2,3; Yang, Yajun 2,3,4; Peng, Qianqian 1; Zhang, Manfei 1,2,3; Li, Jinxi 1; Lu, Dongsheng 1; Liu, Yu 1; Lou, Haiyi 1; Feng, Qidi 1; Lu, Yan 1; Guan, Yaqun 5; Zhang, Zhaoxia 5; Jiao, Yi 5; Sabeti, Pardis 6,7; Krutmann, Jean 8; Tang, Kun 1,2,3; Jin, Li 1,2,3; Xu, Shuhua1,2,3,9 ; Wang, Sijia 1,2,3
	2016-11
发表期刊	HUMAN GENETICS (IF:3.8[JCR-2023],4.5[5-Year])
ISSN	0340-6717
卷号	135 期号:11 页码:1279-1286
发表状态	已发表
DOI	10.1007/s00439-016-1718-y
摘要	Hair straightness/curliness is one of the most conspicuous features of human variation and is particularly diverse among populations. A recent genome-wide scan found common variants in the Trichohyalin (TCHH) gene that are associated with hair straightness in Europeans, but different genes might affect this phenotype in other populations. By sampling 2899 Han Chinese, we performed the first genome-wide scan of hair straightness in East Asians, and found EDAR (rs3827760) as the predominant gene (P = 4.67 x 10(-16)), accounting for 3.66 % of the total variance. The candidate gene approach did not find further significant associations, suggesting that hair straightness may be affected by a large number of genes with subtle effects. Notably, genetic variants associated with hair straightness in Europeans are generally low in frequency in Han Chinese, and vice versa. To evaluate the relative contribution of these variants, we performed a second genome-wide scan in 709 samples from the Uyghur, an admixed population with both eastern and western Eurasian ancestries. In Uyghurs, both EDAR (rs3827760: P = 1.92 x 10(-12)) and TCHH (rs11803731: P = 1.46 x 10(-3)) are associated with hair straightness, but EDAR (OR 0.415) has a greater effect than TCHH (OR 0.575). We found no significant interaction between EDAR and TCHH (P = 0.645), suggesting that these two genes affect hair straightness through different mechanisms. Furthermore, haplotype analysis indicates that TCHH is not subject to selection. While EDAR is under strong selection in East Asia, it does not appear to be subject to selection after the admixture in Uyghurs. These suggest that hair straightness is unlikely a trait under selection.
收录类别	SCI
语种	英语
资助项目	Science and Technology Commission of the Shanghai Municipality[14YF1406800] ; Science and Technology Commission of the Shanghai Municipality[16YF1413900]
WOS研究方向	Genetics & Heredity
WOS类目	Genetics & Heredity
WOS记录号	WOS:000385345000008
出版者	SPRINGER
WOS关键词	RECENT POSITIVE SELECTION ; HAPLOTYPE STRUCTURE ; ASSOCIATION SCAN ; METAANALYSIS ; HETEROGENEITY ; HERITABILITY ; CURLINESS
原始文献类型	Article
引用统计	正在获取...
文献类型	期刊论文
条目标识符	https://kms.shanghaitech.edu.cn/handle/2MSLDSTB/1661
专题	生命科学与技术学院_特聘教授组_徐书华组
通讯作者	Jin, Li; Xu, Shuhua; Wang, Sijia
作者单位	1.Chinese Acad Sci, Univ Chinese Acad Sci, Shanghai Inst Biol Sci, Key Lab Computat Biol,CAS MPG Partner Inst Comput, 320 YueYang Rd, Shanghai 200031, Peoples R China 2.Fudan Univ, Sch Life Sci, Collaborat Innovat Ctr Genet & Dev, State Key Lab Genet Engn, Shanghai 200438, Peoples R China 3.Fudan Univ, Sch Life Sci, Collaborat Innovat Ctr Genet & Dev, Minist Educ,Key Lab Contemporary Anthropol, Shanghai 200438, Peoples R China 4.Fudan Taizhou Inst Hlth Sci, Taizhou 225300, Jiangsu, Peoples R China 5.Xinjiang Med Univ, Preclin Med Coll, Dept Biochem, Urumqi 830011, Peoples R China 6.Harvard Univ, Dept Organism & Evolutionary Biol, Ctr Syst Biol, Cambridge, MA 02138 USA 7.Broad Inst MIT & Harvard, Cambridge, MA 02142 USA 8.IUF Leibniz Res Inst Environm Med, Dusseldorf, Germany 9.ShanghaiTech Univ, Sch Life Sci & Technol, Shanghai 200031, Peoples R China
通讯作者单位	生命科学与技术学院
推荐引用方式 GB/T 7714	Wu, Sijie,Tan, Jingze,Yang, Yajun,et al. Genome-wide scans reveal variants at EDAR predominantly affecting hair straightness in Han Chinese and Uyghur populations[J]. HUMAN GENETICS,2016,135(11):1279-1286.
APA	Wu, Sijie.,Tan, Jingze.,Yang, Yajun.,Peng, Qianqian.,Zhang, Manfei.,...&Wang, Sijia.(2016).Genome-wide scans reveal variants at EDAR predominantly affecting hair straightness in Han Chinese and Uyghur populations.HUMAN GENETICS,135(11),1279-1286.
MLA	Wu, Sijie,et al."Genome-wide scans reveal variants at EDAR predominantly affecting hair straightness in Han Chinese and Uyghur populations".HUMAN GENETICS 135.11(2016):1279-1286.