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

Authors

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

DOI: 10.1007/s004390100524

Cite this article as:
Akey, J.M., Wang, H., Xiong, M. et al. Hum Genet (2001) 108: 516. doi:10.1007/s004390100524

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.

Copyright information

© Springer-Verlag 2001