Further insight into the global variability of the OCA2-HERC2 locus for human pigmentation from multiallelic markers.

ABSTRACT: The OCA2-HERC2 locus is responsible for the greatest proportion of eye color variation in humans. Numerous studies extensively described both functional SNPs and associated patterns of variation over this region. The goal of our study is to examine how these haplotype structures and allelic associations vary when highly variable markers such as microsatellites are used. Eleven microsatellites spanning 357 Kb of OCA2-HERC2 genes are analyzed in 3029 individuals from worldwide populations. We found that several markers display large differences in allele frequency (10% to 35% difference) among Europeans, East Asians and Africans. In Europe, the alleles showing increased frequency can also discriminate individuals with (IrisPlex) predicted blue and brown eyes. Distinct haplotypes are identifi

SUBMITTER: Suarez P 

PROVIDER: S-EPMC8602267 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature