TY - JOUR
T1 - Population Differences in the Frequency of the Agouti Signaling Protein g.8818A > G Polymorphism
AU - Zeigler-Johnson, Charnita
AU - Panossian, Saarene
AU - Gueye, Serigne M.
AU - Jalloh, Mohamed
AU - Ofori-Adjei, David
AU - Kanetsky, Peter A.
PY - 2004/4
Y1 - 2004/4
N2 - 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.
AB - 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.
KW - Agouti Signaling Protein
KW - Alleles
KW - DNA/metabolism
KW - Genetic Variation
KW - Genetics, Population
KW - Genotype
KW - Humans
KW - Intercellular Signaling Peptides and Proteins/genetics
KW - Phenotype
KW - Polymerase Chain Reaction
KW - Polymorphism, Genetic
KW - Polymorphism, Restriction Fragment Length
KW - Sequence Analysis, DNA
KW - Signal Transduction
UR - http://www.scopus.com/inward/record.url?scp=1842473575&partnerID=8YFLogxK
UR - https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=purepublist2023&SrcAuth=WosAPI&KeyUT=WOS:000220175000012&DestLinkType=FullRecord&DestApp=WOS
U2 - 10.1111/j.1600-0749.2004.00134.x
DO - 10.1111/j.1600-0749.2004.00134.x
M3 - Article
C2 - 15016309
SN - 0893-5785
VL - 17
SP - 185
EP - 187
JO - Pigment Cell Research
JF - Pigment Cell Research
IS - 2
ER -