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Cited by 67melanin and skin pigmentationGenetic Associations and EpidemiologyForensic and Genetic Research

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

Akey, Joshua M., Wang, Hong, Xiong, Momiao, Wu, Hong, Liu, Weida, Shriver, Mark D., Jin, Li·2001·Human Genetics
DOI 10.1007/s004390100524
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Abstract

The melanocortin-1 receptor (MC1R) 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 (IVS 13-15 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 MCIR 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.

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  • Until very recently, few direct studies to identify genes responsible for the normal range of human skin pigmentation have been reported, and all these studies investigated only known pigmentation-disorder genes in normal skin-color variation.

    “However, until very recently, few direct studies to identify the genes responsible for the normal range of human skin pigmentation have been reported 13,[17][18][19][20][21][22][23][24][25][26] ; in addition, all these studies have investigated the role of only known pigmentation-disorder genes in normal skin-color variation.”

    From A Genomewide Association Study of Skin Pigmentation in a South Asian Population (2007) · cites this paper as [17]

  • Another study found an association with skin reflectance in a Tibetan population under an epistatic model (P=.01) for a pair of SNPs in OCA2 and MC1R-rs12910433 and rs2228479 (p.V92M).

    “Another study found an association with skin reflectance in a Tibetan population under an epistatic model ( ) for a pair P p .01 of SNPs in OCA2 and MC1R 17 -rs12910433 and a nonsynonymous polymorphism, rs2228479 (p.V92M), respectively.”

    From A Genomewide Association Study of Skin Pigmentation in a South Asian Population (2007) · cites this paper as [17]

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Authors
Akey, J. M., Wang, H., Xiong, M., Wu, H., Liu, W., Shriver, M. D., & Jin, L.
Affiliations
  • The University of Texas Health Science Center at Houston (US)
  • Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
  • Fudan University (CN)
  • Pennsylvania State University (US)
ORCID
Venue
Human Genetics
Publisher
Springer Science and Business Media LLC
Published
2001-06
Volume
108
Issue
6
Pages
516-520
ISSN
  • 0018-7348 (ISSN-L)
  • 0340-6717
  • 1432-1203
DOI
10.1007/s004390100524
OpenAlex
W2142980977
Cited by
67
References
21
Citations by year
2024: 2 · 2021: 2 · 2020: 1 · 2019: 3 · 2018: 2 · 2017: 1 · 2016: 5 · 2015: 3 · 2014: 2 · 2013: 1 · 2012: 5
FWCI
1.13
Type
journal article
Language
en
Open access
closed
Licence
www.springer.com/tdm (tdm)
Locations
  • Human Genetics (publishedVersion)
  • PubMed (publishedVersion)
Funders
National Institutes of Health
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › melanin and skin pigmentation
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
Keywords
MC1R, P gene, skin pigmentation, epistasis, gene-gene interaction, Tibetan population, single nucleotide polymorphisms, skin color, oculocutaneous albinism, red hair, signal transduction
MeSH terms
Adolescent, Adult, Alleles, Carrier Proteins, Child, China, DNA, Epistasis, Genetic, Female, Gene Frequency, Genotype, Humans, Male, Membrane Proteins, Phenotype, Skin Pigmentation, Genetic Variation, Receptors, Corticotropin, Tibet, Polymorphism, Single Nucleotide, Membrane Transport Proteins, Receptors, Melanocortin

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