A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.

ABSTRACT: We have previously demonstrated that haplotypes of three single nucleotide polymorphisms (SNPs) within the first intron of the OCA2 gene are extremely strongly associated with variation in human eye color. In the present work, we describe additional fine association mapping of eye color SNPs in the intergenic region upstream of OCA2 and within the neighboring HERC2 (hect domain and RLD2) gene. We screened an additional 92 SNPs in 300-3000 European individuals and found that a single SNP in intron 86 of HERC2, rs12913832, predicted eye color significantly better (ordinal logistic regression R(2) = 0.68, association LOD = 444) than our previous best OCA2 haplotype. Comparison of sequence alignments of multiple species showed that this SNP lies in the center of a short highly conserved sequen

SUBMITTER: Sturm RA 

PROVIDER: S-EPMC2427173 | biostudies-literature | 2008 Feb

REPOSITORIES: biostudies-literature