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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Authors | J M Akey, H Wang, M Xiong, H Wu, W Liu, M D Shriver, L Jin |
Journal | Human genetics
(Hum Genet)
Vol. 108
Issue 6
Pg. 516-20
(Jun 2001)
ISSN: 0340-6717 [Print] Germany |
PMID | 11499678
(Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
- Carrier Proteins
- Membrane Proteins
- Membrane Transport Proteins
- OCA2 protein, human
- Receptors, Corticotropin
- Receptors, Melanocortin
- DNA
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Topics |
- Adolescent
- Adult
- Alleles
- Carrier Proteins
(genetics)
- Child
- China
- DNA
(genetics)
- Epistasis, Genetic
- Female
- Gene Frequency
- Genetic Variation
- Genotype
- Humans
- Male
- Membrane Proteins
(genetics)
- Membrane Transport Proteins
- Phenotype
- Polymorphism, Single Nucleotide
- Receptors, Corticotropin
(genetics)
- Receptors, Melanocortin
- Skin Pigmentation
(genetics)
- Tibet
(ethnology)
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