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

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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.

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Acknowledgments

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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    Authors and Affiliations

    1. Key Laboratory of Computational Biology, CAS-MPG Partner Institute for Computational Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, University of Chinese Academy of Sciences, 320 YueYang Road, Shanghai, 200031, China

      Sijie Wu, Qianqian Peng, Manfei Zhang, Jinxi Li, Dongsheng Lu, Yu Liu, Haiyi Lou, Qidi Feng, Yan Lu, Kun Tang, Li Jin, Shuhua Xu & Sijia Wang

    2. State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai, 200438, China

      Jingze Tan, Yajun Yang, Manfei Zhang, Kun Tang, Li Jin, Shuhua Xu & Sijia Wang

    3. Fudan-Taizhou Institute of Health Sciences, Taizhou, Jiangsu, 225300, China

      Yajun Yang

    4. Department of Biochemistry, Preclinical Medicine College, Xinjiang Medical University, Urumqi, 830011, China

      Yaqun Guan, Zhaoxia Zhang & Yi Jiao

    5. Department of Organismic and Evolutionary Biology, Center for Systems Biology, Harvard University, Cambridge, MA, 02138, USA

      Pardis Sabeti

    6. The Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA

      Pardis Sabeti

    7. IUF-Leibniz Research Institute for Environmental Medicine, Dusseldorf, Germany

      Jean Krutmann

    8. School of Life Science and Technology, ShanghaiTech University, Shanghai, 200031, China

      Shuhua Xu

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    1. Sijie Wu
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    Correspondence to Li Jin, Shuhua Xu or Sijia Wang.

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    S. Wu, J. Tan, and Y. Yang contributed equally to this work.

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    Wu, S., Tan, J., Yang, Y. et al. Genome-wide scans reveal variants at EDAR predominantly affecting hair straightness in Han Chinese and Uyghur populations. Hum Genet 135, 1279–1286 (2016). https://doi.org/10.1007/s00439-016-1718-y

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