A global view of the OCA2-HERC2 region and pigmentation.

doi:10.1007/s00439-011-1110-x

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Article

A global view of the OCA2-HERC2 region and pigmentation.

Human genetics - 1 May 2012

Donnelly Michael P, Paschou Peristera, Grigorenko Elena, Gurwitz David, Barta Csaba, Lu Ru-Band, Zhukova Olga V, Kim Jong-Jin, Siniscalco Marcello, New Maria, Li Hui, Kajuna Sylvester L B, Manolopoulos Vangelis G, Speed William C, Pakstis Andrew J, Kidd Judith R, Kidd Kenneth K

Abstract excerpt

Mutations in the gene OCA2 are responsible for oculocutaneous albinism type 2, but polymorphisms in and around OCA2 have also been associated with normal pigment variation. In Europeans, three haplotypes in the region have been shown to be associated with eye pigmentation and a missense SNP (rs1800407) has been associated with green/hazel eyes (Branicki et al. in Ann Hum Genet 73:160-170, 2009). In addition, a...

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Identifiers

PMID: 22065085
DOI: 10.1007/s00439-011-1110-x
PMCID: PMC3325407

Genes

OCA2
HERC2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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