FGFR2 is associated with hair thickness in Asian populations
FGFR2 is associated with hair thickness in Asian populations
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DOI：
10.1038/jhg.2009.61
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发表时间：
2009-08-01
影响因子：
3.5
通讯作者：
Ohashi, Jun
中科院分区：
文献类型：
--
作者：
Fujimoto, Akihiro;Nishida, Nao;Ohashi, Jun
头发形态是人类群体中最具差异性的特征之一。先前的一项研究表明，EDAR 基因中的非同义单核苷酸多态性 (SNP) EDAR 1540T/C 与亚洲人群的头发厚度密切相关。然而，其他基因的贡献仍有待阐明。在这项研究中，检查了亚洲人和其他人群之间高度分化的 10 个毛发形成相关基因上的 12 个 SNP，以进一步鉴定与毛发形态相关的基因。根据年龄、性别、人口和 EDAR 1540T/C 的影响进行调整的多元回归分析显示，FGFR2 内含子 9（rs4752566）中的 SNP 与毛发厚度显着相关（横截面积；P 值 - 0.0052，小直径；P 值 - 0.029 和大直径；P 值 - 0.0015）。在含有FGFR2基因的基因组区域中，rs4752566与周围的SNP不存在强连锁不平衡(LD)，这表明rs4752566与毛发厚度的显着关联并不是由于与其他基因的多态性的LD。 FGFR2 的 rs4752566-T 等位基因与较厚的毛发相关，也被证明与较高的 FGFR2 mRNA 水平相关（P 值 - 0.0270）。这些结果表明，FGFR2 多态性通过改变 FGFR2 的表达水平影响亚洲人头发厚度的变化。人类遗传学杂志 (2009) 54, 461-465; doi：10.1038/jhg.2009.61； 2009 年 7 月 10 日在线发布
Hair morphology is one of the most differentiated traits among human populations. A previous study has shown that a nonsynonymous single nucleotide polymorphism (SNP) in the EDAR gene, EDAR 1540T/C, is strongly associated with hair thickness in Asian populations. However, the contributions of other genes remain to be elucidated. In this study, 12 SNPs on 10 hair formation-related genes with high differentiation between Asian and other populations were examined to further identify genes associated with hair morphology. A multiple regression analysis adjusted for age, sex, population and the effect of EDAR 1540T/C revealed an SNP in intron 9 of FGFR2, rs4752566, to be significantly associated with hair thickness (cross-sectional area; P-value-0.0052, small diameter; P-value-0.029 and large diameter; P-value-0.0015). In the genomic region containing the FGFR2 gene, rs4752566 was not in strong linkage disequilibrium (LD) with the surrounding SNPs, indicating that the significant association of rs4752566 with the hair thickness is not due to LD with polymorphisms of the other genes. The rs4752566-T allele of FGFR2, associated with thicker hair, was also shown to be associated with higher mRNA level of FGFR2 (P-value-0.0270). These results suggest that the FGFR2 polymorphism affects the variation in hair thickness in Asia through alteration in the expression level of FGFR2. Journal of Human Genetics (2009) 54, 461-465; doi: 10.1038/jhg.2009.61; published online 10 July 2009