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

Content Provider	Springer Nature Link
Author	Wu, Sijie Tan, Jingze Yang, Yajun Peng, Qianqian Zhang, Manfei Li, Jinxi Lu, Dongsheng Liu, Yu Lou, Haiyi Feng, Qidi Lu, Yan Guan, Yaqun Zhang, Zhaoxia Jiao, Yi Sabeti, Pardis Krutmann, Jean Tang, Kun Jin, Li Xu, Shuhua Wang, Sijia
Copyright Year	2016
Abstract	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 × 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 × 10−12) and TCHH (rs11803731: P = 1.46 × 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.
Starting Page	1279
Ending Page	1286
Page Count	8
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	135
Issue Number	11
e-ISSN	14321203
Language	English
Publisher	Springer Berlin Heidelberg
Publisher Date	2016-08-03
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Human Genetics Molecular Medicine Gene Function Metabolic Diseases
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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