Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype.

Annals of human genetics - 1 Mar 2009

Branicki Wojciech, Brudnik Urszula, Wojas-Pelc Anna

Abstract excerpt

Human pigmentation is a polygenic trait which may be shaped by different kinds of gene-gene interactions. Recent studies have revealed that interactive effects between HERC2 and OCA2 may be responsible for blue eye colour determination in humans. Here we performed a population association study, examining important polymorphisms within the HERC2 and OCA2 genes. Furthermore, pooling these results with genotyping...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Skin Pigmentation
Share to Agouti Signaling Protein
Share to Antigens, Neoplasm

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Color

Share to Guanine Nucleotide Exchange Factors

Share to Hair Color

Share to Poland

Share to Receptor, Melanocortin, Type 1

Source

Identifiers

PMID: 19208107
DOI: 10.1111/j.1469-1809.2009.00504.x

Genes

HERC2
OCA2
ASIP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype.PMID 19208107Read ↗

Gene-gene interactions contribute to eye colour variation in humans.Semantic proximity Read ↗

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

Investigating the genetic architecture of eye colour in a Canadian cohortSemantic proximity Read ↗

Genetic analysis of three important genes in pigmentation and melanoma susceptibility: CDKN2A, MC1R and HERC2/OCA2.Semantic proximity Read ↗

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

Genetic determinants of hair, eye and skin pigmentation in Europeans.Semantic proximity Read ↗

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

A comparative GWAS of eye colour in light and dark eye genetic backgrounds defined by HERC2 rs12913832 polymorphism in a Canadian cohort of European ancestry.Semantic proximity Read ↗

Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma.Semantic proximity Read ↗

Interactive effects of MC1R and OCA2 on melanoma risk phenotypes.Semantic proximity Read ↗

Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations.Semantic proximity Read ↗

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 ↗

⌁Select a neighboring publication to make it the new centre.