Association of the SLC45A2 gene with physiological human hair colour variation
Association of the SLC45A2 gene with physiological human hair colour variation
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DOI：
10.1007/s10038-008-0338-3
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发表时间：
2008-12-01
影响因子：
3.5
通讯作者：
Wojas-Pelc, Anna
中科院分区：
文献类型：
--
作者：
Branicki, Wojciech;Brudnik, Urszula;Wojas-Pelc, Anna
色素沉着是一种复杂的生理特征，涉及多个基因。已经有几个基因与人类色素沉着的自然差异有关。SLC45A2基因编码参与黑色素合成的转运蛋白，被认为是影响人类色素沉着的最重要基因之一。在这里，我们介绍了一项对欧洲血统人群进行的关联研究的结果，其中检查了SLC45A2基因的两个非同义多态性- rs26722 （E272K）和rs16891982 (L374F) -与不同色素性状之间的关系。该研究揭示了发色变异位点和正常发色变异之间的显著关联。当两个snp都包含在逻辑回归模型中时，只有L374F仍然与头发颜色显著相关。在该人群样本中未检测到与其他色素沉着特征的关联。我们的研究结果表明，罕见的等位基因L374显著增加了黑色发色的可能性（OR = 7.05），因此可能被认为是未来黑色发色预测的标记。
Pigmentation is a complex physical trait with multiple genes involved. Several genes have already been associated with natural differences in human pigmentation. The SLC45A2 gene encoding a transporter protein involved in melanin synthesis is considered to be one of the most important genes affecting human pigmentation. Here we present results of an association study conducted on a population of European origin, where the relationship between two non-synonymous polymorphisms in the SLC45A2 gene - rs26722 (E272K) and rs16891982 (L374F) - and different pigmentation traits was examined. The study revealed a significant association between both variable sites and normal variation in hair colour. Only L374F remained significantly associated with hair colour when both SNPs were included in a logistic regression model. No association with other pigmentation traits was detected in this population sample. Our results indicate that the rare allele L374 significantly increases the possibility of having black hair colour (OR = 7.05) and thus may be considered as a future marker for black hair colour prediction.