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

Abstract

Abstract: 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.

Key words: MC1R, SNP, skin color, Chinese Han population, association analysis

CLC Number:

Q348

GU Hai-ying, ZHENG Hong-xia, LU Yang-yang, HU Hai-qun, LI Yue-yue,ZHANG Li, HE Ya-nan, WU Qi-han. Association study of MC1R coding region polymorphisms and pigment phenotype in Chinese Han population[J]. Journal of East China Normal University(Natural Sc, 2013, 2013(2): 103-110.

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