Fujimoto Akihiro, Ohashi Jun, Nishida Nao, Miyagawa Taku, Morishita Yasuyuki, Tsunoda Tatsuhiko, Kimura Ryosuke, Tokunaga Katsushi
Data Analysis Fusion Team, Computational Science Research Program, RIKEN, Tokyo, Japan.
Hum Genet. 2008 Sep;124(2):179-85. doi: 10.1007/s00439-008-0537-1. Epub 2008 Aug 13.
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 x 10(-6)) in Japanese. When all populations (Thai-Mai, Indonesian, and Japanese) were combined, the association of 1540T/C was stronger (P = 3.8 x 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.
头发形态在人类群体中是一种高度多样化的表型。我们最近报道，外胚层发育不良蛋白A受体（EDAR 1540T/C）中的一个非同义单核苷酸多态性与泰国一个民族（泰国麦族）和一个印度尼西亚人群的头发纤维粗细有关。然而，这些东南亚人群在遗传和地理上较为接近，因此EDAR对其他亚洲人群头发形态变异的遗传贡献仍不清楚。在本研究中，我们检测了日本人群（东北亚人群）中1540T/C与头发形态的关联。正如我们之前的研究所观察到的，在日本人中，1540T/C与头发横截面积显著相关（P = 2.7×10^(-6)）。当所有人群（泰国麦族、印度尼西亚人和日本人）合并在一起时，1540T/C的关联性比年龄、性别和人群的关联性更强（P = 3.8×10^(-10)）。这些结果表明，EDAR是头发粗细的遗传决定因素，也是亚洲人群中头发纤维粗细变异的一个重要因素。
