Interaction between the melanocortin-1 receptor and P genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population

被引:50
作者
Akey, JM
Wang, H
Xiong, M
Wu, H
Liu, W
Shriver, MD
Jin, L
机构
[1] Univ Texas, Sch Publ Hlth, Ctr Human Genet, Houston, TX 77030 USA
[2] Chinese Acad Med Sci, Peking Union Med Coll, Inst Dermatol, Nanjing 210042, Peoples R China
[3] Fudan Univ, Inst Genet, Sch Life Sci, Shanghai 200443, Peoples R China
[4] Penn State Univ, Dept Anthropol, University Pk, PA 16802 USA
基金
美国国家卫生研究院;
关键词
D O I
10.1007/s004390100524
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The melanocortin-1 receptor (MC IR) and P gene product are two important components of the human pigmentary system that have been shown to be associated with red hair/fair skin and cause type II oculocutaneous albinism, respectively. However, their contribution to inter-individual variation at the population level is not well defined. To this end. we genotyped 3 single nucleotide polymorphisms (SNPs) in the MC1R gene (Arg67Gln, Gln163Arg, Val92Met) and 2 SNPs in the P gene (IVS13-15 and Gly780Gly) in 184 randomly ascertained Tibetan subjects, whose skin color was measured as a quantitative trait by reflective spectroscopy. Single locus analyses failed to demonstrate an association between any of the 5 SNPs and skin pigmentation. However, when an epistatic model was applied to the data, a significant gene-gene interaction was identified between Val92Met in MC1R and IVS13-15 in the P gene (F=2.43; P=0.0105). We also discuss the possible mechanisms of how gene interactions arise in signal transduction pathways.
引用
收藏
页码:516 / 520
页数:5
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