Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans
Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans
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DOI：
10.1016/j.ajhg.2009.10.009
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发表时间：
2009-11-13
影响因子：
9.8
通讯作者：
Martin, Nicholas G.
中科院分区：
文献类型：
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作者：
Medland, Sarah E.;Nyholt, Dale R.;Martin, Nicholas G.
头发形态在人群之间和欧洲血统的人之间高度分化。虽然东亚人群的头发形态已被广泛研究，但对欧洲人这种特征的遗传学知之甚少。我们在三个欧洲血统的澳大利亚样本中进行了头发形态（直，波浪卷曲）的全基因组关联扫描。所有三个样本都显示了与Trichohyalin基因（TCHH）相关的证据，该基因在毛囊发育中的内根鞘中表达，解释了6%的方差（p 1.5 x 10（-31））。这些变异在北方欧洲人中的频率最高，与亚洲人群中直发EDAR变异的分布平行。
Hair morphology is highly differentiated between populations and among people of European ancestry. Whereas hair morphology in East Asian populations has been studied extensively, relatively little is known about the genetics of this trait in Europeans. We performed a genome-wide association scan for hair morphology (straight, wavy curly) in three Australian samples of European descent. All three samples showed evidence of association implicating the Trichohyalin gene (TCHH), which is expressed in the developing inner root sheath of the hair follicle, and explaining similar to 6% of variance (p 1.5 x 10(-31)). These variants are at their highest frequency in Northern Europeans, paralleling the distribution of the straight-hair EDAR variant in Asian populations.