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A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia


Hair morphology is a highly divergent phenotype among human populations. We recently reported that a nonsynonymous SNP in the ectodysplasin A receptor (EDAR 1540T/C) is associated with head hair fiber thickness in an ethnic group in Thailand (Thai-Mai) and an Indonesian population. However, these Southeast Asian populations are genetically and geographically close, and thus the genetic contribution of EDAR to hair morphological variation in the other Asian populations has remained unclear. In this study, we examined the association of 1540T/C with hair morphology in a Japanese population (Northeast Asian). As observed in our previous study, 1540T/C showed a significant association with hair cross-sectional area (P = 2.7 × 10−6) in Japanese. When all populations (Thai-Mai, Indonesian, and Japanese) were combined, the association of 1540T/C was stronger (P = 3.8 × 10−10) than those of age, sex, and population. These results indicate that EDAR is the genetic determinant of hair thickness as well as a strong contributor to hair fiber thickness variation among Asian populations.

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Fig. 1
Fig. 2



Ectodysplasin A receptor


189 participants from Tokyo, Japan


65 participants from Thai-Mai, in Thailand


121 participants from Indonesia


Southeast Asians (THM and IDN)


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We are deeply grateful to the people participating in this study. We also gratefully acknowledge Mr. Yusuke Ohnishi, Mr. Chiaki Miura, Mr. Masahiko Kumagai, Mr. Kazuo Ebine, Ms. Mihoko Shimada and Ms. Takako Fujimoto for their valuable cooperation in our sample collection. We deeply appreciate Mr. Todd A. Johnson and two anonymous referees for their helpful comments on the manuscript. This study was partly supported by a Grant-in-Aid for Scientific Research from the Ministry of Education, Culture, Sports, Science, and Technology of Japan (to J.O.).

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The authors declare no conflict of interest.

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Correspondence to Jun Ohashi.

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Fujimoto, A., Ohashi, J., Nishida, N. et al. A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia. Hum Genet 124, 179–185 (2008). https://doi.org/10.1007/s00439-008-0537-1

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  • Asian Population
  • Hair Sample
  • Population Stratification
  • Stepwise Multiple Regression Analysis
  • Head Hair