rs12913832 is a SNP near the OCA2 gene that may be functionally linked to blue or brown eye color, due to a lowering of promoter activity of the OCA2 gene. Blue eye color is associated with the rs12913832(G;G) genotype.[PMID 18172690, PMID 18252222]
For green versus blue eye color rs12913832 in OCA2/HERC2 has a score of 51.5 and an estimated allelic OR of 8.43 . The SNP rs1667394 in this same region has an estimated OR of (4.85–10.06). 10.1371/journal.pgen.1000993rs12913832 is also part of a haplotype spanning 166kB on chromosome 15, defined by 13 SNPs listed below, that is found in 97% of all Caucasians with blue eyes. In this haplotype, variations in rs1129038 and rs12913832 are relatively common in Caucasians though rare among other racial groups.[PMID 18172690]
[PMID 18650849] rs12913832-T (brown eye) homozygotes compared to rs12913832-C (blue eye). correlations with skin, eye, and hair color variation.
|Condition||Black vs. red hair color|
|95% CI||0.40-0.48) decrease in hair color scor|
[PMID 19278018] Brief communication: Blue eyes in lemurs and humans: Same phenotype, different genetic mechanism
[PMID 19208107] Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype.
|Trait||Eye color traits|
|Title||Digital quantification of human eye color highlights genetic association of three new loci|
|Odds Ratio||None None|
|Title||Web-based, participant-driven studies yield novel genetic associations for common traits|
|Odds Ratio||8.43 [NR]|
[PMID 20457063] Human eye colour and HERC2, OCA2 and MATP[PMID 22615734] The Classical Pink-Eyed Dilution Mutation Affects Angiogenic Responsiveness
[PMID 22234890] HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter.
[PMID 19340012] Genome-wide association study of tanning phenotype in a population of European ancestry.
[PMID 19472299] Genotyping of five single nucleotide polymorphisms in the OCA2 and HERC2 genes associated with blue-brown eye color in the Japanese population.
[PMID 19619260] Genetics of human iris colour and patterns.
[PMID 19668368] Ancestry analysis in the 11-M Madrid bomb attack investigation.
[PMID 19711812] [Genetic analysis of the putative remains of general Wladyslaw Sikorski].
[PMID 20018053] A genome-wide association scan for rheumatoid arthritis data by Hotelling's T2 tests.
[PMID 20221248] Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation.
[PMID 20569440] Alterations in LMTK2, MSMB and HNF1B gene expression are associated with the development of prostate cancer.
[PMID 20629734] Genetic analysis of three important genes in pigmentation and melanoma susceptibility: CDKN2A, MC1R and HERC2/OCA2.
[PMID 21253569] Genome-wide association study SNPs in the human genome diversity project populations: does selection affect unlinked SNPs with shared trait associations?
[PMID 21926416] Genome-wide association study identifies novel loci predisposing to cutaneous melanoma.
[PMID 22101828] Technical note: quantitative measures of iris color using high resolution photographs.
|qualified_impact||Insufficiently evaluated pathogenic|
[PMID 23100201] A single-nucleotide polymorphism (SNP) multiplex system: the association of five SNPs with human eye and hair color in the Slovenian population and comparison using a Bayesian network and logistic regression model
[PMID 23548203] Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans