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