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Article

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

American journal of human genetics - 1 Feb 2008

Sturm Richard A, Duffy David L, Zhao Zhen Zhen, Leite Fabio P N, Stark Mitchell S, Hayward Nicholas K, Martin Nicholas G, Montgomery Grant W

Abstract excerpt

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...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 18252222
DOI: 10.1016/j.ajhg.2007.11.005
PMCID: PMC2427173

Genes

OCA2
HERC2
HLTF

Variants

rs1800407

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.PMID 18252222Read ↗

Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression.Semantic proximity Read ↗

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

Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.Semantic proximity Read ↗

Association between Variants in the OCA2-HERC2 Region and Blue Eye Colour in HERC2 rs12913832 AA and AG IndividualsSemantic proximity Read ↗

A global view of the OCA2-HERC2 region and pigmentation.Semantic proximity Read ↗

Importance of nonsynonymous OCA 2 variants in human eye color predictionSemantic proximity Read ↗

A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.Semantic proximity Read ↗

Genetics of human iris colour and patterns.Semantic proximity Read ↗

Genotyping of five single nucleotide polymorphisms in the OCA2 and HERC2 genes associated with blue-brown eye color in the Japanese population.Semantic proximity Read ↗

Genotype-phenotype associations and human eye color.Semantic proximity Read ↗

HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter.Semantic proximity Read ↗

The Chromatin Organization Close to SNP rs12913832, Involved in Eye Color Variation, Is Evolutionary Conserved in Vertebrates.Semantic proximity Read ↗

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