SynthesisGenome biology and evolution2019
A Genome-Wide Association Study of Skin and Iris Pigmentation among Individuals of South Asian Ancestry.
Synthesis in Genome biology and evolution, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 44 citations in OpenAlex.
- Novel MC1R variants cause red hair and lighter skin color.HGG advances · 2026Article
- Morphological classification of externally visible characteristics (EVCs) among North Indians for DNA phenotyping applications.Die Naturwissenschaften · 2026Article
- 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.Scientific reports · 2026Article
- The genetic architecture of human skin pigmentation: evolution and adaptation across global populations.Frontiers in genetics · 2026Review
- Genetics of Skin, Hair, and Eye Color in Human Pigmentation Disorders.Annals of human genetics · 2025Review
- Association of Genetic Polymorphisms in SLC45A2, TYR, HERC2, and SLC24A in African Women with Melasma: A Pilot Study.International journal of molecular sciences · 2025Article
- Personalized skin health management and nutrition strategies: a comprehensive study based on genetic polymorphisms and dietary factors.Frontiers in genetics · 2025Article
- Exploring Eye, Hair, and Skin Pigmentation in a Spanish Population: Insights from Hirisplex-S Predictions.Genes · 2024Article
- A study of genetic variants associated with skin traits in the Vietnamese population.BMC genomics · 2024Article
- Identification of Polymorphisms in theThe journal of poultry science · 2023Article
- Decreased Levels of DNA Methylation in the PCDHA Gene Cluster as a Risk Factor for Early-Onset High Myopia in Young Children.Investigative ophthalmology & visual science · 2022Article
- Genomic diversity and post-admixture adaptation in the Uyghurs.National science review · 2022Article
- Genetic Connections and Convergent Evolution of Tropical Indigenous Peoples in Asia.Molecular biology and evolution · 2022Article
- Article
- Exploiting within-breed variability in the autochthonous Reggiana breed identified several candidate genes affecting pigmentation-related traits, stature and udder defects in cattle.Animal genetics · 2021Article
- Article
- Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color.Science advances · 2021Article
- The distribution of runs of homozygosity in the genome of river and swamp buffaloes reveals a history of adaptation, migration and crossbred events.Genetics, selection, evolution : GSE · 2021Article
- The overlap of genetic susceptibility to schizophrenia and cardiometabolic disease can be used to identify metabolically different groups of individuals.Scientific reports · 2021Article
- Western influenced lifestyle and Kv2.1 association as predicted biomarkers for Tunisian colorectal cancer.BMC cancer · 2020Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
South Asia has a complex history of migrations and is characterized by substantial pigmentary and genetic diversity. For this reason, it is an ideal region to study the genetic architecture of normal pigmentation variation. Here, we present a meta-analysis of two genome-wide association studies (GWASs) of skin pigmentation using skin reflectance (M-index) as a quantitative phenotype. The meta-analysis includes a sample of individuals of South Asian descent living in Canada (N = 348), and a sample of individuals from two caste and four tribal groups from West Maharashtra, India (N = 480). We also present the first GWAS of iris color in South Asian populations. This GWAS was based on quantitative measures of iris color obtained from high-resolution iris pictures. We identified genome-wide significant associations of variants within the well-known gene SLC24A5, including the nonsynonymous rs1426654 polymorphism, with both skin pigmentation and iris color, highlighting the pleiotropic effects of this gene on pigmentation. Variants in the HERC2 gene (e.g., rs12913832) were also associated with iris color and iris heterochromia. Our study emphasizes the usefulness of quantitative methods to study iris color variation. We also identified novel genome-wide significant associations with skin pigmentation and iris color, but we could not replicate these associations due to the lack of independent samples. It will be critical to expand the number of studies in South Asian populations in order to better understand the genetic variation driving the diversity of skin pigmentation and iris color observed in this region.
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