Branicki W, Brudnik U, Kupiec T, Wolańska-Nowak P, Szczerbińska A, Wojas-Pelc A
Institute of Forensic Research, Section of Forensic Genetics, Westerplatte 9, Krakow, Poland.
Ann Hum Genet. 2008 Mar;72(Pt 2):184-92. doi: 10.1111/j.1469-1809.2007.00407.x. Epub 2007 Dec 18.
A number of genes are considered to affect normal variation in human pigmentation. Recent studies have indicated that OCA2 is the crucial gene involved in the high variation of iris colour present among populations of European descent. In this study, eleven polymorphisms of the OCA2 gene were examined in search of their association with different pigment traits. The evolutionary tree scanning method indicated that the strongest phenotypic eye colour variation is associated with the branch defined by nonsynonymous change rs1800407, which refers to amino acid causing change Arg419Gln located in exon 13. Single SNP analysis indicated that allele 419Gln is associated with green/hazel iris colour (p < 0.001). According to tree scanning analysis, the proportion of eye colour variation explained by this nucleotide position is merely 4%. Thus, additional variation present in the OCA2 gene and perhaps some other pigment related genes must be taken into account in order to explain the high phenotypic variation in iris colour.
许多基因被认为会影响人类色素沉着的正常变异。最近的研究表明，OCA2基因是导致欧洲裔人群虹膜颜色高度变异的关键基因。在本研究中，对OCA2基因的11种多态性进行了检测，以寻找它们与不同色素性状的关联。进化树扫描方法表明，最强的表型眼睛颜色变异与由非同义变化rs1800407定义的分支相关，该变化指的是位于第13外显子的导致氨基酸变化Arg419Gln的变化。单核苷酸多态性分析表明，等位基因419Gln与绿色/淡褐色虹膜颜色相关（p < 0.001）。根据树扫描分析，该核苷酸位置所解释的眼睛颜色变异比例仅为4%。因此，为了解释虹膜颜色的高表型变异，必须考虑OCA2基因以及可能其他一些色素相关基因中存在的额外变异。
