ArticleScientific reports2020
The distinctive geographic patterns of common pigmentation variants at the OCA2 gene.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 20 citations in OpenAlex.
- Maternal Glycaemic and Insulinemic Status and Newborn DNA Methylation: Findings in Women With Overweight and Obesity.The Journal of clinical endocrinology and metabolism · 2022Trial
- SLC16A6 is a tyrosine transporter for the melanosome.bioRxiv : the preprint server for biology · 2026Article
- Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism.Pigment cell & melanoma research · 2026Article
- ORANGE: a machine learning approach for modeling tissue-specific aging from transcriptomic data.Briefings in bioinformatics · 2026Article
- Multiple-testing corrections in selection scans using identity-by-descent segments.American journal of human genetics · 2025Article
- From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation.PLoS genetics · 2025Article
- Association Between the Nutritional Inflammatory Index and Obstructive Sleep Apnea Risk: Insights from the NHANES 2015-2020 and Mendelian Randomization Analyses.Healthcare (Basel, Switzerland) · 2025Article
- Multiple-testing corrections in selection scans using identity-by-descent segments.bioRxiv : the preprint server for biology · 2025Article
- Population Genomics Reveals Elevated Inbreeding and Accumulation of Deleterious Mutations in White Raccoon Dogs.Biology · 2025Article
- Why humans evolved blue eyes.Frontiers in psychology · 2025Article
- Identification of Polymorphisms in theThe journal of poultry science · 2023Article
- Prediction and association analyses of skin phenotypes in Japanese females using genetic, environmental, and physical features.Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI) · 2023Article
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Authors and funding
13 authors at 9 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Oculocutaneous Albinism type 2 (OCA2) is a gene of great interest because of genetic variation affecting normal pigmentation variation in humans. The diverse geographic patterns for variant frequencies at OCA2 have been evident but have not been systematically investigated, especially outside of Europe. Here we examine population genetic variation in and near the OCA2 gene from a worldwide perspective. The very different patterns of genetic variation found across world regions suggest strong selection effects may have been at work over time. For example, analyses involving the variants that affect pigmentation of the iris argue that the derived allele of the rs1800407 single nucleotide polymorphism, which produces a hypomorphic protein, may have contributed to the previously demonstrated positive selection in Europe for the enhancer variant responsible for light eye color. More study is needed on the relationships of the genetic variation at OCA2 to variation in pigmentation in areas beyond Europe.
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