Genetic determinants of hair, eye and skin pigmentation in Europeans
Genetic determinants of hair, eye and skin pigmentation in Europeans
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DOI：
10.1038/ng.2007.13
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发表时间：
2007-12-01
期刊：
影响因子：
30.8
通讯作者：
Stefansson, Kari
中科院分区：
文献类型：
--
作者：
Sulem, Patrick;Gudbjartsson, Daniel F.;Stefansson, Kari
头发、皮肤和眼睛的颜色是人类高度遗传和可见的特征。我们对2986名冰岛人进行了全基因组关联扫描，以寻找与头发和眼睛色素沉着、皮肤对阳光的敏感性和雀斑相关的变异。然后，我们测试了来自6个地区的最密切相关的snp——其中4个以前没有涉及人类色素的正常变异——并在2,718名冰岛人和1,214名荷兰人的第二个样本中复制了它们的关联。来自所有六个区域的snp都符合全基因组显著性的标准。SLC24A4的一个变异与眼睛和头发颜色有关，KITLG附近的一个变异与头发颜色有关，TYR中的两个编码变异与眼睛颜色和雀斑有关，6p25.3的一个变异与雀斑有关。第五个区域提供了对先前报道的OCA2关联的改进，第六个区域包含了先前描述的MC1R变体。
Hair, skin and eye colors are highly heritable and visible traits in humans. We carried out a genome-wide association scan for variants associated with hair and eye pigmentation, skin sensitivity to sun and freckling among 2,986 Icelanders. We then tested the most closely associated SNPs from six regions-four not previously implicated in the normal variation of human pigmentation-and replicated their association in a second sample of 2,718 Icelanders and a sample of 1,214 Dutch. The SNPs from all six regions met the criteria for genome-wide significance. A variant in SLC24A4 is associated with eye and hair color, a variant near KITLG is associated with hair color, two coding variants in TYR are associated with eye color and freckles, and a variant on 6p25.3 is associated with freckles. The fifth region provided refinements to a previously reported association in OCA2, and the sixth encompasses previously described variants in MC1R.