ArticlePigment cell & melanoma research2021
Investigating DNA methylation as a potential mediator between pigmentation genes, pigmentary traits and skin cancer.
Article in Pigment cell & melanoma research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
14 citing papers in PubMed, 15 citations in OpenAlex.
- Genomic Analysis of the Columbian Plumage Pattern in Various Chicken Breeds.Animals : an open access journal from MDPI · 2026Article
- Predicting skin melanoma progression via LAG-3, TIGIT and HAVCR2.Functional & integrative genomics · 2026Article
- Modifiable risk factors and skin cancers: a multi-omics Mendelian randomization study from causal inference to drug target discovery.Frontiers in genetics · 2026Article
- The significance of DNA methylation pattern in the etiology of basal cell carcinoma.Archives of dermatological research · 2025Article
- Whole methylomes reveal high-altitude-associated methylation at hypoxia and pigmentation genes in South American Indigenous populations.Environmental epigenetics · 2025Article
- Genetic effects on the skin methylome in healthy older twins.American journal of human genetics · 2024Article
- Investigation of GPR143 as a promising novel marker for the progression of skin cutaneous melanoma through bioinformatic analyses and cell experiments.Apoptosis : an international journal on programmed cell death · 2024Article
- The association between DNA methylation and human height and a prospective model of DNA methylation-based height prediction.Human genetics · 2024Article
- Validation of selection signatures for coat color in the Podolica Italiana gray cattle breed.Frontiers in genetics · 2024Article
- Mendelian Randomization Analysis reveals Inverse Genetic Risks between Skin Cancers and Vitiligo.JID innovations : skin science from molecules to population health · 2023Article
- Genome-Wide Pleiotropy Study Identifies Association ofJournal of clinical medicine · 2022Article
- Tissue- and ethnicity-independent hypervariable DNA methylation states show evidence of establishment in the early human embryo.Nucleic acids research · 2022Article
- Article
- Investigating DNA methylation as a potential mediator between pigmentation genes, pigmentary traits and skin cancer.Pigment cell & melanoma research · 2021Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 3 countries.
Funding
Abstract
Pigmentation characteristics are well-known risk factors for skin cancer. Polymorphisms in pigmentation genes have been associated with these traits and with the risk of malignancy. However, the functional relationship between genetic variation and disease is still unclear. This study aims to assess whether pigmentation SNPs are associated with pigmentary traits and skin cancer via DNA methylation (DNAm). Using a meta-GWAS of whole-blood DNAm from 36 European cohorts (N = 27,750; the Genetics of DNA Methylation Consortium, GoDMC), we found that 19 out of 27 SNPs in 10 pigmentation genes were associated with 391 DNAm sites across 30 genomic regions. We examined the effect of 25 selected DNAm sites on pigmentation traits, sun exposure phenotypes and skin cancer and on gene expression in whole blood. We uncovered an association of DNAm site cg07402062 with red hair in the Avon Longitudinal Study of Parents and Children (ALSPAC). We also found that the expression of ASIP and CDK10 was associated with hair colour, melanoma and basal cell carcinoma. Our results indicate that DNAm and expression of pigmentation genes may play a role as potential mediators of the relationship between genetic variants, pigmentation phenotypes and skin cancer and thus deserve further scrutiny.
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Registered trials
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