The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with darker skin color in African Americans
- 22 February 2005
- journal article
- Published by Springer Nature in Human Genetics
- Vol. 116 (5), 402-406
- https://doi.org/10.1007/s00439-004-1251-2
Abstract
Skin color, a predictor of social interactions and risk factor for several types of cancer, is due to two contrasting forms of melanin, the darker eumelanin and lighter phaeomelanin. The lighter pigment phaeomelanin is the product of the antagonistic function of the agouti signaling protein (ASIP) on the α-melanocyte stimulating hormone receptor (MC1R). Studies have shown that a single-nucleotide polymorphism (SNP) in the 3′UTR of the ASIP gene is associated with dark hair and eyes; however, little is known about its role in inter-individual variation in skin color. Here we examine the relationship between the ASIP g.8818A>G SNP and skin color (M index) as assessed by reflectometry in 234 African Americans. Analyses of variance (ANOVA) were performed to evaluate the effects of ASIP genotypes, age, individual ancestry, and sex on skin color variation. Significant effects on M index variation were observed for ASIP genotypes (F(2,236)=4.37, P=0.01), ancestry (F(1,243)=37.2, PF(1,244)=4.08, P=0.05). Subsequent analyses revealed a strong effect on M index from ASIP genotypes in African American females (PA polymorphism exhibits a dominant effect leading to lighter skin color and that variation in the ASIP gene may have been one of several factors contributing to reductions in pigmentation in some populations. Further study is needed to reveal how interactions between ASIP and several other genes, such as MC1R and P, predict human pigmentation.Keywords
This publication has 21 references indexed in Scilit:
- Relation of type 2 diabetes to individual admixture and candidate gene polymorphisms in the Hispanic American population of San Luis Valley, ColoradoJournal of Medical Genetics, 2004
- Ancestral proportions and their association with skin pigmentation and bone mineral density in Puerto Rican women from New York cityHuman Genetics, 2004
- Genetics of Hair and Skin ColorAnnual Review of Genetics, 2003
- Control of Confounding of Genetic Associations in Stratified PopulationsAmerican Journal of Human Genetics, 2003
- Measuring and using admixture to study the genetics of complex diseasesHuman Genomics, 2003
- CYP3A4-V and prostate cancer in African Americans: causal or confounding association because of population stratification?Human Genetics, 2002
- A Polymorphism in the Agouti Signaling Protein Gene Is Associated with Human PigmentationAmerican Journal of Human Genetics, 2002
- Agouti protein is an antagonist of the melanocyte-stimulating-hormone receptorNature, 1994
- Cultured Human Melanocytes Respond to MSH Peptides and ACTHPigment Cell Research, 1994
- Individual admixture estimates: Disease associations and individual risk of diabetes and gallbladder disease among Mexican‐Americans in Starr County, TexasAmerican Journal of Physical Anthropology, 1986