Human Genetics

, Volume 135, Issue 11, pp 1279–1286 | Cite as

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

  • Sijie Wu
  • Jingze Tan
  • Yajun Yang
  • Qianqian Peng
  • Manfei Zhang
  • Jinxi Li
  • Dongsheng Lu
  • Yu Liu
  • Haiyi Lou
  • Qidi Feng
  • Yan Lu
  • Yaqun Guan
  • Zhaoxia Zhang
  • Yi Jiao
  • Pardis Sabeti
  • Jean Krutmann
  • Kun Tang
  • Li JinEmail author
  • Shuhua XuEmail author
  • Sijia WangEmail author
Original Investigation


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.


Candidate Gene Approach Admix Population Predominant Gene Local Ancestry Extended Haplotype Homozygosity 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



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.

Supplementary material

439_2016_1718_MOESM1_ESM.pdf (1.8 mb)
The Supplementary material 1 (PDF 1822 kb)


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Copyright information

© Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  1. 1.Key Laboratory of Computational Biology, CAS-MPG Partner Institute for Computational Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of SciencesUniversity of Chinese Academy of SciencesShanghaiChina
  2. 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 SciencesFudan UniversityShanghaiChina
  3. 3.Fudan-Taizhou Institute of Health SciencesTaizhouChina
  4. 4.Department of Biochemistry, Preclinical Medicine CollegeXinjiang Medical UniversityUrumqiChina
  5. 5.Department of Organismic and Evolutionary Biology, Center for Systems BiologyHarvard UniversityCambridgeUSA
  6. 6.The Broad Institute of MIT and HarvardCambridgeUSA
  7. 7.IUF-Leibniz Research Institute for Environmental MedicineDusseldorfGermany
  8. 8.School of Life Science and TechnologyShanghaiTech UniversityShanghaiChina

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