Genome-wide association study of skin pigmentation in African Americans

• Study Design:
  • Cross-Sectional
• Study Type:
  • Community
  • GWAS
• dbGaP estimated ancestry using GRAF-pop
• Total number of consented subjects: 395
• Subject Sample Telemetry Report (SSTR)

• PubMed

Major genes linked to pigmentation traits, such as skin color, eye color, tanning, and hair color, have been identified, but unidentified population-specific variants affecting skin pigmentation variation in African Americans and other African descent populations may exist. The goal of this genome-wide association study was to identify variants associated with skin pigmentation in African Americans, who exhibit a vast range of variation in skin pigmentation and genetic ancestral proportion. Self-identified African Americans (n=395) from Washington, D.C., and Chicago, IL were included in this study. Skin pigmentation was measured with an objective method using a reflectometer. There was a large proportion of skin pigmentation variation unexplained by known genetic variants, but variants in major pigmentation genes, such as SLC24A5, SLC45A2, and OCA2, explain skin pigmentation variation in African Americans.   

• Primary Phenotype: Skin Pigmentation

• OCA2
• SLC45A2
• SLC24A5

• Principal Investigator
  • Rick Kittles, PhD. City of Hope, Duarte, CA, USA.
• Funding Source
  • R01MD007105-01. National Institutes of Health, Bethesda, MD, USA.