Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health Sciences, University of Copenhagen, 11 Frederik V's Vej, DK-2100 Copenhagen, Denmark.
Forensic Sci Int Genet. 2010 Oct;4(5):323-8. doi: 10.1016/j.fsigen.2009.12.004. Epub 2010 Jan 12.
Prediction of human eye colour by forensic genetic methods is of great value in certain crime investigations. Strong associations between blue/brown eye colour and the SNP loci rs1129038 and rs12913832 in the HERC2 gene were recently described. Weaker associations between eye colour and other genetic markers also exist. In 395 randomly selected Danes, we investigated the predictive values of various combinations of SNP alleles in the HERC2, OCA2 and MATP (SLC45A2) genes and compared the results to the eye colours as they were described by the individuals themselves. The highest predictive value of typing either the HERC2 SNPs rs1129038 and/or rs12913832 that are in strong linkage disequilibrium was observed when eye colour was divided into two groups, (1) blue, grey and green (light) and (2) brown and hazel (dark). Sequence variations in rs11636232 and rs7170852 in HERC2, rs1800407 in OCA2 and rs16891982 in MATP showed additional association with eye colours in addition to the effect of HERC2 rs1129038. Diplotype analysis of three sequence variations in HERC2 and one sequence variation in OCA2 showed the best discrimination between light and dark eye colours with a likelihood ratio of 29.3.
通过法医遗传学方法预测人类眼睛的颜色在某些犯罪调查中具有重要价值。最近发现，蓝色/棕色眼睛颜色与 HERC2 基因中的 SNP 位点 rs1129038 和 rs12913832 之间存在很强的关联。眼睛颜色与其他遗传标记之间也存在较弱的关联。在 395 名随机选择的丹麦人中，我们研究了 HERC2、OCA2 和 MATP（SLC45A2）基因中各种 SNP 等位基因组合的预测值，并将结果与个体自己描述的眼睛颜色进行了比较。当将眼睛颜色分为两组（1）蓝色、灰色和绿色（浅色）和（2）棕色和淡褐色（深色）时，观察到 HERC2 中强连锁不平衡的 SNP rs1129038 和/或 rs12913832 的分型具有最高的预测值。HERC2 中的 rs11636232 和 rs7170852 以及 OCA2 中的 rs1800407 和 MATP 中的 rs16891982 的序列变异除了 HERC2 rs1129038 的影响外，还与眼睛颜色有额外的关联。HERC2 中的三个序列变异和 OCA2 中的一个序列变异的二倍型分析显示，区分浅色和深色眼睛颜色的最佳可能性比为 29.3。
