The melanocortin-1 receptor (MC1R) andP 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 theMC1R gene (Arg67Gln, Gln163Arg, Val92Met) and 2 SNPs in theP 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 theP gene (F=2.43;P=0.0105). We also discuss the possible mechanisms of how gene interactions arise in signal transduction pathways.
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Similar content being viewed by others Explore related subjectsDiscover the latest articles and news from researchers in related subjects, suggested using machine learning. Author information Authors and AffiliationsHuman Genetics Center, School of Public Health, University of Texas Texas–Houston, 1200 Herman Pressler E547, Houston, TX 77030, USA, USA
Joshua M. Akey, Momiao Xiong & Li Jin
Institute of Dermatology, Chinese Academy of Medical Sciences, Peking Union Medical College, Nanjing, 210042, China, China
Hong Wang & Weida Liu
Institute of Genetics, School of Life Sciences, Fudan University, 220 Handan Road, Shanghai, China, 200443, China
Hong Wu
Department of Anthropology, Pennsylvania State University, 409 Carpenter Bldg., University Park, PA 16802, USA, USA
Mark D. Shriver
Electronic Publication
About this article Cite this articleAkey, J.M., Wang, H., Xiong, M. et al. Interaction between the melanocortin-1 receptor andP genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population. Hum Genet 108, 516–520 (2001). https://doi.org/10.1007/s004390100524
Received: 21 February 2001
Accepted: 13 April 2001
Published: 06 June 2001
Issue Date: June 2001
DOI: https://doi.org/10.1007/s004390100524
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