Human Genetics

, Volume 132, Issue 10, pp 1187–1191

The adaptive variant EDARV370A is associated with straight hair in East Asians

Original Investigation

DOI: 10.1007/s00439-013-1324-1

Cite this article as:
Tan, J., Yang, Y., Tang, K. et al. Hum Genet (2013) 132: 1187. doi:10.1007/s00439-013-1324-1


Hair straightness/curliness is a highly heritable trait amongst human populations. Previous studies have reported European specific genetic variants influencing hair straightness, but those in East Asians remain unknown. One promising candidate is a derived coding variant of the ectodysplasin A receptor (EDAR), EDARV370A (370A), associated with several phenotypic changes of epidermal appendages. One of the strongest signals of natural selection in human genomes, 370A, has risen to high prevalence in East Asian and Native American populations, whilst being almost absent in Europeans and Africans. This striking frequency distribution and the pleiotropic nature of 370A led us to pursue if hair straightness, another epidermal appendage-related phenotype, is affected by this variant. By studying 1,718 individuals from four distinctive East Asian populations (Han, Tibetan, Mongolian, and Li), we found a significant association between 370A and the straight hair type in the Han (p = 2.90 × 10−6), Tibetan (p = 3.07 × 10−2), and Mongolian (p = 1.03 × 10−5) populations. Combining all the samples, the association is even stronger (p = 5.18 × 10−10). The effect of 370A on hair straightness is additive, with an odds ratio of 2.05. The results indicate very different biological mechanisms of straight hair in Europe and Asia, and also present a more comprehensive picture of the phenotypic consequences of 370A, providing important clues into the potential adaptive forces shaping the evolution of this extraordinary genetic variant.

Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  1. 1.State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life SciencesFudan UniversityShanghaiChina
  2. 2.CMC Institute of Health SciencesTaizhouChina
  3. 3.CAS-MPG Partner Institute for Computational Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of ScienceShanghaiChina
  4. 4.The Broad Institute of MIT and HarvardCambridgeUSA
  5. 5.Department of Organismic and Evolutionary Biology, Center for Systems BiologyHarvard UniversityCambridgeUSA
  6. 6.Department of Immunology and Infectious DiseasesHarvard School of Public HealthBostonUSA