ArticleScientific reports2021
Further insight into the global variability of the OCA2-HERC2 locus for human pigmentation from multiallelic markers.
Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 12 citations in OpenAlex.
- Predicting Physical Appearance from Low Template: State of the Art and Future Perspectives.Genes · 2026Review
- Look past the cooperative eye hypothesis: reconsidering the evolution of human eye appearance.Biological reviews of the Cambridge Philosophical Society · 2025Review
- The genomics of the domestication syndrome in a songbird model species.Communications biology · 2025Article
- Whole-exome sequencing uncovers the genetic basis of hereditary concomitant exotropia in ten Chinese pedigrees.BMC medical genomics · 2025Article
- A new approach to broaden the range of eye colour identifiable by IrisPlex in DNA phenotyping.Scientific reports · 2022Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
The OCA2-HERC2 locus is responsible for the greatest proportion of eye color variation in humans. Numerous studies extensively described both functional SNPs and associated patterns of variation over this region. The goal of our study is to examine how these haplotype structures and allelic associations vary when highly variable markers such as microsatellites are used. Eleven microsatellites spanning 357 Kb of OCA2-HERC2 genes are analyzed in 3029 individuals from worldwide populations. We found that several markers display large differences in allele frequency (10% to 35% difference) among Europeans, East Asians and Africans. In Europe, the alleles showing increased frequency can also discriminate individuals with (IrisPlex) predicted blue and brown eyes. Distinct haplotypes are identified around the variants C and T of the functional SNP rs12913832 (associated to blue eyes), with linkage disequilibrium r
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