中国汉族人群MC1R基因多态与皮肤颜色等表型特征关联研究

皮肤癌是一种比较常见的肿瘤,在西方人群中研究表明,通过影响皮肤颜色等色素表型特征,黑色素生成通路中相关基因多态性(MC1R等)可增加皮肤癌发生风险.本研究首次在中国汉族人群中选择MC1R基因编码区的多态位点为研究对象,分析其与中国汉族人群的皮肤颜色、对阳光的敏感性、雀斑情况及头发颜色的关联性.在MC1R基因编码区发现7个SNP位点:c.200G>A,c.274G>A,c.359T>C,c.421G>A,c.488G>A,c.497C>G和c.942A>G.其中c.421G>A为新发现的SNP位点,c.497C>G则首次在中国汉族人群中报道.c.942A>G与皮肤颜色相关,其突变纯合基因型GG与皮肤颜色浅显著相关(P=0.044,OR=0.16,95%CI:0.03～0.95).c.359T>C杂合基因型TC与雀斑数目多显著相关(P=0.040,OR=5.76,95%CI:1.05～31.53),表明MC1R基因多态与中国汉族人群的皮肤颜色等色素表型特征具有一定相关性,为相关临床研究提供了参考.

Association study of MC1R coding region polymorphisms and pigment phenotype in Chinese Han population

Skin cancer is one of the most common malignancies worldwide. Researches on western population indicated that the polymorphism of several candidate regulatory genes including 〖STBX〗MC1R〖STB3〗 could increase the risk for developing skin cancer through influencing human pigment characteristics. In our study, for the first time we evaluated whether single nucleotide polymorphisms (SNPs) of 〖STBX〗MC1R〖STB3〗 was associated with the pigment phenotypic characteristics like skin color in Chinese Han population. 7 polymorphism sites (c.200G>A, c.274G>A, c.359T>C, c.421G>A, c.488G>A, c.497C>G, and c.942A>G) were found in the coding region of 〖STBX〗MC1R〖STB3〗 gene in our samples, among which c.421G>A and c.497C>G were the first time to report polymorphic in Chinese Han population. Additionally, c.942A>G was found to be associated with skin color, its mutant homozygous GG was associated with light skin color (P=0.044, OR=0.16， 95% CI: 0.03~0.95). And the mutant heterozygous genotype GA of c.359T>C was associated with less number of freckles (P=0.040, OR=5.76, 95% CI: 1.05~31.53). 〖JP2〗The work indicated that variations in 〖STBX〗MC1R〖STB3〗 coding region indeed had some relation with pigment characteristics in Chinese Han population, which has reference value in clinical analysis.