Oculocutaneous Albinism type 2 (OCA2) is a gene of great interest because of genetic variation affecting normal pigmentation variation in humans. The diverse geographic patterns for variant frequencies at OCA2 have been evident but have not been systematically investigated, especially outside of Europe. Here we examine population genetic variation in and near the OCA2 gene from a worldwide perspective. The very different patterns of genetic variation found across world regions suggest strong selection effects may have been at work over time. For example, analyses involving the variants that affect pigmentation of the iris argue that the derived allele of the rs1800407 single nucleotide polymorphism, which produces a hypomorphic protein, may have contributed to the previously demonstrated positive selection in Europe for the enhancer variant responsible for light eye color. More study is needed on the relationships of the genetic variation at OCA2 to variation in pigmentation in areas beyond Europe.

2 型眼皮肤白化病 ( OCA2 ) 是一个非常受关注的基因，因为遗传变异会影响人类的正常色素沉着变异。OCA2变异频率的不同地理模式已经很明显，但尚未进行系统研究，尤其是在欧洲以外。在这里，我们检查了OCA2及其附近的种群遗传变异从世界范围看基因。在世界各地区发现的非常不同的遗传变异模式表明，随着时间的推移，强烈的选择效应可能一直在起作用。例如，涉及影响虹膜色素沉着的变体的分析认为，产生亚形蛋白的 rs1800407 单核苷酸多态性的衍生等位基因可能促成了先前在欧洲对负责浅色眼的增强子变体的阳性选择。颜色。需要对OCA2的遗传变异与欧洲以外地区色素沉着变异的关系进行更多研究。