Population Differences in the Frequency of the Agouti Signaling Protein g.8818A > G Polymorphism

Charnita Zeigler-Johnson, Saarene Panossian, Serigne M. Gueye, Mohamed Jalloh, David Ofori-Adjei, Peter A. Kanetsky

Research output: Contribution to journalArticlepeer-review

24 Scopus citations

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.

Original languageEnglish
Pages (from-to)185-187
Number of pages3
JournalPigment Cell Research
Volume17
Issue number2
DOIs
StatePublished - Apr 2004

Keywords

  • 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

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