Human Molecular Genetics Advance Access originally published online on December 8, 2007
Human Molecular Genetics 2008 17(6):835-843; doi:10.1093/hmg/ddm355
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A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness
1 Department of Human Genetics, Graduate School of Medicine 2 Department of Biological Sciences, Graduate School of Science 3 Department of Molecular Pathology, Graduate School of Medicine 4 Division for International Relations, The University of Tokyo, Hongo, Tokyo, Japan 5 Department of Forensic Medicine, Tokai University School of Medicine, Isehara, Kanagawa, Japan 6 Pharmacology Department 7 Biology Department, Yarsi University, Central Jakarta, DKI Jakarta, Indonesia 8 Rawai Health Centre, Rawai, Muang, Phuket, Thailand 9 Department of Physiology, Faculty of Medicine, Khon Kaen University, Mittraphab Road, Khon Kaen, Thailand 10 Socio-Environmental Health Sciences, Graduate School of Medicine, Gunma University, Maebashi-City, Gunma, Japan 11 National Institute for Environmental Studies, Onogawa, Tsukuba-City, Ibaraki, Japan
* To whom correspondence should be addressed at: Department of Forensic Medicine, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa 259-1193, Japan. Tel: +81 463931121 ext. 2630; Fax: +81 463920284; Email: rkimura{at}is.icc.u-tokai.ac.jp
Received September 11, 2007; Revised November 13, 2007; Accepted December 2, 2007
Hair morphology is one of the most differentiated traits among human populations. However, genetic backgrounds of hair morphological differences among populations have not been clarified yet. In addition, little is known about the evolutionary forces that have acted on hair morphology. To identify hair morphology-determining genes, the levels of local genetic differentiation in 170 genes that are related to hair morphogenesis were evaluated by using data from the International HapMap project. Among highly differentiated genes, ectodysplasin A receptor (EDAR) harboring an Asian-specific non-synonymous single nucleotide polymorphism (1540T/C, 370Val/Ala) was identified as a strong candidate. Association studies between genotypes and hair morphology revealed that the Asian-specific 1540C allele is associated with increase in hair thickness. Reporter gene assays suggested that 1540T/C affects the activity of the downstream transcription factor NF-
B. It was inferred from geographic distribution of 1540T/C and the long-range haplotype test that 1540C arose after the divergence of Asians from Europeans and its frequency has rapidly increased in East Asian populations. These findings lead us to conclude that EDAR is a major genetic determinant of Asian hair thickness and the 1540C allele spread through Asian populations due to recent positive selection.
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