Original Investigation

Human Genetics

, Volume 108, Issue 6, pp 516-520

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

  • Joshua M. AkeyAffiliated withHuman Genetics Center, School of Public Health, University of Texas Texas–Houston, 1200 Herman Pressler E547, Houston, TX 77030, USA
  • , Hong WangAffiliated withInstitute of Dermatology, Chinese Academy of Medical Sciences, Peking Union Medical College, Nanjing, 210042, China
  • , Momiao XiongAffiliated withHuman Genetics Center, School of Public Health, University of Texas Texas–Houston, 1200 Herman Pressler E547, Houston, TX 77030, USA
  • , Hong WuAffiliated withInstitute of Genetics, School of Life Sciences, Fudan University, 220 Handan Road, Shanghai, China, 200443
  • , Weida LiuAffiliated withInstitute of Dermatology, Chinese Academy of Medical Sciences, Peking Union Medical College, Nanjing, 210042, China
  • , Mark D. ShriverAffiliated withDepartment of Anthropology, Pennsylvania State University, 409 Carpenter Bldg., University Park, PA 16802, USA
  • , Li JinAffiliated withHuman Genetics Center, School of Public Health, University of Texas Texas–Houston, 1200 Herman Pressler E547, Houston, TX 77030, USA

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Abstract.

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.