Human eye colour and HERC2, OCA2 and MATP
Human eye colour and HERC2, OCA2 and MATP
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DOI：
10.1016/j.fsigen.2009.12.004
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发表时间：
2010-10-01
影响因子：
3.1
通讯作者：
Morling, Niels
中科院分区：
文献类型：
--
作者：
Mengel-From, Jonas;Borsting, Claus;Morling, Niels
通过法医遗传学方法预测人眼颜色在某些犯罪调查中具有重要价值。最近描述了蓝/棕色眼睛颜色与 HERC2 基因中的 SNP 位点 rs1129038 和 rs12913832 之间的强关联。眼睛颜色和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 SNP 等位基因的各种组合的预测值，并将结果与个体自己描述的眼睛颜色进行比较。当眼睛颜色分为两组时，（1）蓝色、灰色和绿色（浅色）和（2）棕色和淡褐色（深色），观察到对处于强连锁不平衡状态的 HERC2 SNP rs1129038 和/或 rs12913832 进行分型的最高预测值。 HERC2 中 rs11636232 和 rs7170852、OCA2 中 rs1800407 和 MATP 中 rs16891982 的序列变异显示，除了 HERC2 rs1129038 的影响外，还与眼睛颜色相关。 HERC2 中的三种序列变异和 OCA2 中的一种序列变异的双倍型分析显示浅色和深色眼睛颜色之间的最佳区分，似然比为 29.3。 (C) 2009 Elsevier Ireland Ltd. 保留所有权利。
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. (C) 2009 Elsevier Ireland Ltd. All rights reserved.