Human Genetics

, Volume 108, Issue 6, pp 516–520 | Cite as

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

  • Joshua M. Akey
  • Hong Wang
  • Momiao Xiong
  • Hong Wu
  • Weida Liu
  • Mark D. Shriver
  • Li Jin
Original Investigation

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.

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Copyright information

© Springer-Verlag 2001

Authors and Affiliations

  • Joshua M. Akey
    • 1
  • Hong Wang
    • 2
  • Momiao Xiong
    • 1
  • Hong Wu
    • 3
  • Weida Liu
    • 2
  • Mark D. Shriver
    • 4
  • Li Jin
    • 1
  1. 1.Human Genetics Center, School of Public Health, University of Texas Texas–Houston, 1200 Herman Pressler E547, Houston, TX 77030, USAUSA
  2. 2.Institute of Dermatology, Chinese Academy of Medical Sciences, Peking Union Medical College, Nanjing, 210042, ChinaChina
  3. 3.Institute of Genetics, School of Life Sciences, Fudan University, 220 Handan Road, Shanghai, China, 200443China
  4. 4.Department of Anthropology, Pennsylvania State University, 409 Carpenter Bldg., University Park, PA 16802, USAUSA

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