Genome-wide scans reveal variants at EDAR predominantly affecting hair straightness in Han Chinese and Uyghur populations
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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.
KeywordsCandidate Gene Approach Admix Population Predominant Gene Local Ancestry Extended Haplotype Homozygosity
This work was supported by the National Natural Science Foundation of China (31322030, 91331108 to S.W., 30890034, 31271338 to L.J., 91331204, 31525014 to S.X., 31501011 to Y.L., 31260263 to Y.G., 31401061 to Q.P., 31071102 to J.T., 31071096 to Y.Y.), the National Basic Research Program (2012CB944600 to L.J.), the Ministry of Science and Technology (2011BAI09B00 to L.J.), the Ministry of Education (311016 to L.J.), the Chinese Academy of Sciences (XDB13040100 to S.X., 2014KIP214 to Q.P.), the Science and Technology Commission of the Shanghai Municipality (14YF1406800 to Y.L., 16YF1413900 to H.L.), the National Program for Top-notch Young Innovative Talents of The “Wanren Jihua” Project to S.X., the National Thousand Young Talents Award to S.W., the Max Planck-CAS Paul Gerson Unna Independent Research Group Leadership Award to S.W., open projects from the State Key Laboratory of Genetic Engineering, Fudan University to S.W., and the CAS Key Laboratory of Computational Biology to J.T.
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