Population differences in the frequency of the agouti signaling protein g.8818a>G polymorphism

Pigment Cell Res. 2004 Apr;17(2):185-7. doi: 10.1111/j.1600-0749.2004.00134.x.

Abstract

The role of agouti signaling protein (ASIP) in human pigmentation pathways is not definitively understood although its murine homologue regulates, in part, pheomelanogenesis. We have reported an association of a polymorphism in the 3'-untranslated region of ASIP (g.8818A>G) with dark hair and eye color among a group of European-Americans (Am J Hum Genet 2002 March;70:770). Among 147 healthy control subjects, the frequency of the G-allele was 0.12. We hypothesized that this polymorphism would occur at different frequencies among different population groups. Using PCR-RFLP, we genotyped 25 East Asian, 86 African-American, and 207 West African individuals for the ASIP g.8818A>G polymorphism. The g.8818G-allele was present in the West African sample at a frequency of 0.80, in the African-American sample at a frequency of 0.62, and in the East Asian sample at 0.28. The difference in allele frequency among population groups was statistically significant (P < 0.0001). Although the effect of the g.8818A>G polymorphism upon ASIP function is unknown, the large difference in allele frequency between our West African and European-American sample populations lends support to the notion that this gene may be important in human pigmentation.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Agouti Signaling Protein
  • Alleles
  • DNA / metabolism
  • Genetic Variation
  • Genetics, Population
  • Genotype
  • Humans
  • Intercellular Signaling Peptides and Proteins / genetics*
  • Phenotype
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Polymorphism, Restriction Fragment Length
  • Sequence Analysis, DNA
  • Signal Transduction*

Substances

  • Agouti Signaling Protein
  • Intercellular Signaling Peptides and Proteins
  • DNA