ArticleBMC cancer2013
Genetic variants in PARP1 (rs3219090) and IRF4 (rs12203592) genes associated with melanoma susceptibility in a Spanish population.
Article in BMC cancer, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 9 of them syntheses that pooled it.
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Who cites it
24 citing papers in PubMed, 9 syntheses or guidelines pooled it, 50 citations in OpenAlex.
- The relationship between single nucleotide polymorphisms and skin cancer susceptibility: A systematic review and network meta-analysis.Frontiers in oncology · 2023Pooled it
- Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancer.Nature genetics · 2022Pooled it
- Polymorphism rs1801516 (G > A) in theThe Journal of international medical research · 2020Pooled it
- Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.Nature genetics · 2020Pooled it
- Association between ATM rs1801516 polymorphism and cancer susceptibility: a meta-analysis involving 12,879 cases and 18,054 controls.BMC cancer · 2018Pooled it
- Pooled it
- Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.Nature genetics · 2015Pooled it
- Updated field synopsis and systematic meta-analyses of genetic association studies in cutaneous melanoma: the MelGene database.The Journal of investigative dermatology · 2015Pooled it
- Pooled it
- 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
- Genetic Landscape of Familial Melanoma.Genes · 2025Review
- Linking ambient air pollution to mental health: evidence based on the two-sample Mendelian randomization and colocalization study.Translational psychiatry · 2024Article
- Interferon regulatory factor 4 modulates epigenetic silencing and cancer-critical pathways in melanoma cells.Molecular oncology · 2024Article
- Association of Melanoma-Risk Variants with Primary Melanoma Tumor Prognostic Characteristics and Melanoma-Specific Survival in the GEM Study.Current oncology (Toronto, Ont.) · 2021Article
- Multi-omic signatures identify pan-cancer classes of tumors beyond tissue of origin.Scientific reports · 2020Article
- A common intronic variant of PARP1 confers melanoma risk and mediates melanocyte growth via regulation of MITF.Nature genetics · 2017Article
- Nevus count associations with pigmentary phenotype, histopathological melanoma characteristics and survival from melanoma.International journal of cancer · 2016Article
- Further evidence for population specific differences in the effect of DNA markers and gender on eye colour prediction in forensics.International journal of legal medicine · 2016Article
- Sex-specific genetic effects associated with pigmentation, sensitivity to sunlight, and melanoma in a population of Spanish origin.Biology of sex differences · 2016Article
- Update in genetic susceptibility in melanoma.Annals of translational medicine · 2015Review
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Authors and funding
10 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFew high penetrance genes are known in Malignant Melanoma (MM), however, the involvement of low-penetrance genes such as MC1R, OCA2, ASIP, SLC45A2 and TYR has been observed. Lately, genome-wide association studies (GWAS) have been the ideal strategy to identify new common, low-penetrance susceptibility loci. In this case-control study, we try to validate in our population nine melanoma associated markers selected from published GWAS in melanoma predisposition.
methodsWe genotyped the 9 markers corresponding to 8 genes (PARP1, MX2, ATM, CCND1, NADSYN1, CASP8, IRF4 and CYP2R1) in 566 cases and 347 controls from a Spanish population using KASPar probes. Genotypes were analyzed by logistic regression and adjusted by phenotypic characteristics.
resultsWe confirm the protective role in MM of the rs3219090 located on the PARP1 gene (p-value 0.027). Additionally, this SNP was also associated with eye color (p-value 0.002). A second polymorphism, rs12203592, located on the IRF4 gene was associated with protection to develop MM for the dominant model (p-value 0.037). We have also observed an association of this SNP with both lentigines (p-value 0.014) and light eye color (p-value 3.76 × 10(-4)). Furthermore, we detected a novel association with rs1485993, located on the CCND1 gene, and dark eye color (p-value 4.96 × 10(-4)). Finally, rs1801516, located on the ATM gene, showed a trend towards a protective role in MM similar to the one firstly described in a GWAS study.
conclusionsTo our knowledge, this is the first time that these SNPs have been associated with MM in a Spanish population. We confirmed the proposed role of rs3219090, located on the PARP1 gene, and rs12203592, located on the IRF4 gene, as protective to MM along the same lines as have previous genome-wide associated works. Finally, we have seen associations between IRF4, PARP1, and CCND1 and phenotypic characteristics, confirming previous results for the IRF4 gene and presenting novel data for the last two, suggesting that pigmentation characteristics correlated with eye color are potential mediators between PARP1 and MM protection.
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