ArticleHuman molecular genetics2013
Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
Article in Human molecular genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers, 3 of them syntheses that pooled it.
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Who cites it
64 citing papers in PubMed, 3 syntheses or guidelines pooled it, 116 citations in OpenAlex.
- Genome-wide association study of actinic keratosis identifies new susceptibility loci implicated in pigmentation and immune regulation pathways.Communications biology · 2022Pooled it
- Association study of genetic variation in DNA repair pathway genes and risk of basal cell carcinoma.International journal of cancer · 2017Pooled it
- Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.Nature genetics · 2015Pooled it
- Trial
- Genome-wide discovery reveals 30 loci for choroidal thickness and uncovers potential causal links with angle-closure glaucoma.medRxiv : the preprint server for health sciences · 2026Article
- A Comprehensive Review of GWASs of Human Hair Traits.The Journal of investigative dermatology · 2025Review
- Deciphering the molecular clock: exploring molecular mechanisms and genetic influences on skin ageing.Biogerontology · 2025Review
- Genetic Landscape of Familial Melanoma.Genes · 2025Review
- Polygenic Risk Score Analysis of 37 SNPs Associated with Melanoma Risk in Colombian Population.International journal of molecular sciences · 2025Article
- Ancestral origins and post-admixture adaptive evolution of highland Tajiks.National science review · 2024Article
- Design and quality control of large-scale two-sample Mendelian randomization studies.International journal of epidemiology · 2023Article
- Article
- Risk of Skin Cancer and Actinic Keratosis in Patients with Rosacea: A Nationwide Population-based Cohort Study.Acta dermato-venereologica · 2022Article
- Article
- Evaluation of Personalized Skincare Through in-silico Gene Interactive Networks and Cellular Responses to UVR and Oxidative Stress.Clinical, cosmetic and investigational dermatology · 2022Article
- Association of Melanoma-Risk Variants with Primary Melanoma Tumor Prognostic Characteristics and Melanoma-Specific Survival in the GEM Study.Current oncology (Toronto, Ont.) · 2021Article
- A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.Human mutation · 2021Article
- Prediction of eye and hair pigmentation phenotypes using the HIrisPlex system in a Brazilian admixed population sample.International journal of legal medicine · 2021Article
- Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color.Science advances · 2021Article
- Article
4 more citing papers are in PubMed but not listed here.
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Authors and funding
13 authors at 6 institutions in 2 countries.
Funding
Abstract
Aiming to identify novel genetic loci for pigmentation and skin cancer, we conducted a series of genome-wide association studies on hair color, eye color, number of sunburns, tanning ability and number of non-melanoma skin cancers (NMSCs) among 10 183 European Americans in the discovery stage and 4504 European Americans in the replication stage (for eye color, 3871 males in the discovery stage and 2496 males in the replication stage). We targeted novel chromosome regions besides the known ones for replication. As a result, we identified a new region downstream of the EDNRB gene on 13q22 associated with hair color and the strongest association was the single-nucleotide polymorphism (SNP) rs975739 (P = 2.4 × 10(-14); P = 5.4 × 10(-9) in the discovery set and P = 1.2 × 10(-6) in the replication set). Using blue, intermediate (including green) and brown eye colors as co-dominant outcomes, we identified the SNP rs3002288 in VASH2 on 1q32.3 associated with brown eye (P = 7.0 × 10(-8); P = 5.3 × 10(-5) in the discovery set and P = 0.02 in the replication set). Additionally, we identified a significant interaction between the SNPs rs7173419 and rs12913832 in the OCA2 gene region on brown eye color (P-value for interaction = 3.8 × 10(-3)). As for the number of NMSCs, we identified two independent SNPs on chr6 and one SNP on chromosome 14: rs12203592 in IRF4 (P = 7.2 × 10(-14); P = 1.8 × 10(-8) in the discovery set and P = 6.7 × 10(-7) in the replication set), rs12202284 between IRF4 and EXOC2 (P = 5.0 × 10(-8); P = 6.6 × 10(-7) in the discovery set and P = 3.0 × 10(-3) in the replication set) and rs8015138 upstream of GNG2 (P = 6.6 × 10(-8); P = 5.3 × 10(-7) in the discovery set and P = 0.01 in the replication set).
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