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

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dc.contributor.authorZeigler-Johnson, C.
dc.contributor.authorPanossian, S.
dc.contributor.authorGueye, S.M.
dc.contributor.authorJalloh, M.
dc.contributor.authorOfori-Adjei, D.
dc.contributor.authorKanetsky, P.A.
dc.date.accessioned2019-03-12T11:42:19Z
dc.date.available2019-03-12T11:42:19Z
dc.date.issued2004-04
dc.description.abstractThe 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.en_US
dc.identifier.otherVol. 17(2): pp 185-7
dc.identifier.otherDOI: 10.1111/j.1600-0749.2004.00134.x
dc.identifier.urihttp://ugspace.ug.edu.gh/handle/123456789/28607
dc.language.isoenen_US
dc.publisherPigment Cell Researchen_US
dc.subjectAgouti signaling proteinen_US
dc.subjectHuman populationsen_US
dc.subjectPigmentationen_US
dc.subjectPolymorphismen_US
dc.titlePopulation Differences in the Frequency of the Agouti Signaling Protein g.8818A > G Polymorphismen_US
dc.typeArticleen_US

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