SNP information rs12203592

Research and publications:

  18483556   A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.

  19340012   Genome-wide association study of tanning phenotype in a population of European ancestry.

  19396635   Relationship between interferon regulatory factor 4 genetic polymorphisms, measures of sun sensitivity and risk for non-Hodgkin lymphoma.

  19474294   Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

  19710684   Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma.

  19897031   An intronic polymorphism of IRF4 gene influences gene transcription in vitro and shows a risk association with childhood acute lymphoblastic leukemia in males.

  20018015   Elastic-net regularization approaches for genome-wide association studies of rheumatoid arthritis.

  20158590   Predicting phenotype from genotype: normal pigmentation.

  20463881   Digital quantification of human eye color highlights genetic association of three new loci.

  20546537   Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis.

  20585627   Web-based, participant-driven studies yield novel genetic associations for common traits.

  20602913   IRF4 variants have age-specific effects on nevus count and predispose to melanoma.

  20647408   Melanocytic nevi, nevus genes, and melanoma risk in a large case-control study in the United Kingdom.

  20650817   Functional intronic polymorphisms: Buried treasure awaiting discovery within our genes.

  20736230   A ChIP-seq defined genome-wide map of vitamin D receptor binding: associations with disease and evolution.

  21197618   Model-based prediction of human hair color using DNA variants.

  21270109   A germline variant in the interferon regulatory factor 4 gene as a novel skin cancer risk locus.

  21674838   Genetic examination of the putative skull of Jan Kochanowski reveals its female sex.

  21685912   Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.

  21962134   Polymorphisms in nevus-associated genes MTAP, PLA2G6, and IRF4 and the risk of invasive cutaneous melanoma.

  21983787   Genome-wide association study identifies three new melanoma susceptibility loci.

  22057235   Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease.

  22194982   Association of systemic lupus erythematosus clinical features with European population genetic substructure.

  22512251   Potential association of single nucleotide polymorphisms in pigmentation genes with the development of basal cell carcinoma.

  22629401   Evaluation of genetic markers as instruments for Mendelian randomization studies on vitamin D.

  23049788   Further evidence of subphenotype association with systemic lupus erythematosus susceptibility loci: a European cases only study.

  23110848   Human pigmentation genes under environmental selection.

  23226157   Gender differences in cancer susceptibility: an inadequately addressed issue.

  23548203   Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.

  23771755   Improved eye- and skin-color prediction based on 8 SNPs.

  23948321   Genetic analyses of the human eye colours using a novel objective method for eye colour classification.

  24267888   A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway.

  24270849   Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data.

  24373676   Genetic and neuroanatomic associations in sporadic frontotemporal lobar degeneration.

  24631691   The effect of gender on eye colour variation in European populations and an evaluation of the IrisPlex prediction model.

  24880832   Collaborative EDNAP exercise on the IrisPlex system for DNA-based prediction of human eye colour.

  24906573   Association of interferon regulatory factor 4 gene polymorphisms rs12203592 and rs872071 with skin cancer and haematological malignancies susceptibility: a meta-analysis of 19 case-control studies.

  24924479   Skin pigmentation, sun exposure and vitamin D levels in children of the Avon Longitudinal Study of Parents and Children.

  24987407   eMERGEing progress in genomics-the first seven years.

  25077817   Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions.

  25631878   Allele-specific transcriptional regulation of IRF4 in melanocytes is mediated by chromatin looping of the intronic rs12203592 enhancer to the IRF4 promoter.

  25705849   A Genome-Wide Association Study Identifies the Skin Color Genes IRF4, MC1R, ASIP, and BNC2 Influencing Facial Pigmented Spots.

  25724930   IRF4, MC1R and TYR genes are risk factors for actinic keratosis independent of skin color.

  26306600   Puzzling role of genetic risk factors in human longevity: "risk alleles" as pro-longevity variants.

  26547235   Crowdsourced direct-to-consumer genomic analysis of a family quartet.

  26628504   Common Polymorphisms in the Solute Carrier SLC30A10 are Associated With Blood Manganese and Neurological Function.

  26857527   Association of Interferon Regulatory Factor-4 Polymorphism rs12203592 With Divergent Melanoma Pathways.

  26924531   Fast Principal-Component Analysis Reveals Convergent Evolution of ADH1B in Europe and East Asia.

  26926045   A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features.

  26928068   Meta-analysis of the Correlation Between Interleukin-6 Promoter Polymorphism -174G/C and Interferon Regulatory Factor 4 rs12203592 Polymorphism With Skin Cancer Susceptibility.

  26938746   Pigmentary Markers in Danes--Associations with Quantitative Skin Colour, Nevi Count, Familial Atypical Multiple-Mole, and Melanoma Syndrome.

  26998216   Sex-specific genetic effects associated with pigmentation, sensitivity to sunlight, and melanoma in a population of Spanish origin.

  27221533   Further evidence for population specific differences in the effect of DNA markers and gender on eye colour prediction in forensics.

  27424798   Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma.

  27435525   Quantitative assessment of skin, hair, and iris variation in a diverse sample of individuals and associated genetic variation.

  27468418   Importance of nonsynonymous OCA2 variants in human eye color prediction.

  27499155   Genetic markers of pigmentation are novel risk loci for uveal melanoma.

  27539887   Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.

  27570521   Common Genetic Polymorphisms within NFκB-Related Genes and the Risk of Developing Invasive Aspergillosis.

  27769064   Genetic polymorphisms of Wnt/β-catenin pathway genes are associated with the efficacy and toxicities of radiotherapy in patients with nasopharyngeal carcinoma.

  27861356   A childhood acute lymphoblastic leukemia genome-wide association study identifies novel sex-specific risk variants.

  28083618   Cereblon and IRF4 Variants Affect Risk and Response to Treatment in Multiple Myeloma.

  28103633   IRF4 rs12203592 functional variant and melanoma survival.

  28502801   Genome-Wide Association Shows that Pigmentation Genes Play a Role in Skin Aging.

  28667740   Functional melanoma-risk variant IRF4 rs12203592 associated with Breslow thickness: a pooled international study of primary melanomas.

  28755520   Genetic variation in IRF4 expression modulates growth characteristics, tyrosinase expression and interferon-gamma response in melanocytic cells.

  29054604   Susceptibility Loci-Associated Cutaneous Squamous Cell Carcinoma Invasiveness.

  29315334   Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies.

  29315480   Iris pigmented lesions as a marker of cutaneous melanoma risk: an Australian case-control study.

  29518100   Associations between sun sensitive pigmentary genes and serum prostate specific antigen levels.

  29753029   Inherited Genetic Variants Associated with Melanoma BRAF/NRAS Subtypes.

  29974532   Genetic variants associated with skin photosensitivity in a southern European population from Spain.

  30520188   Non-genetic and genetic predictors of a superficial first basal cell carcinoma.

  30980179   Prediction of skin color, tanning and freckling from DNA in Polish population: linear regression, random forest and neural network approaches.

  31246726   IRF4 rs12203592*T/T genotype is associated with nodular melanoma.

  31519034   Principal component analysis of seven skin-ageing features identifies three main types of skin ageing.

  31958143   Association of IRF4 single-nucleotide polymorphism rs12203592 with melanoma-specific survival.

  32121219   Environmental UVR Levels and Skin Pigmentation Gene Variants Associated with Folate and Homocysteine Levels in an Elderly Cohort.

  32152480   NFKB2 polymorphisms associate with the risk of developing rheumatoid arthritis and response to TNF inhibitors: Results from the REPAIR consortium.

  32856602   Association of Known Melanoma Risk Factors with Primary Melanoma of the Scalp and Neck.

  33342058   Influence of germline genetic variants on dermoscopic features of melanoma.

  33692100   Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color.

  34071952   Prediction of Eye Colour in Scandinavians Using the EyeColour 11 (EC11) SNP Set.

  34418235   Biophysical evidence to support and extend the vitamin D-folate hypothesis as a paradigm for the evolution of human skin pigmentation.

  34424336   Different Pigmentation Risk Loci for High-Risk Monosomy 3 and Low-Risk Disomy 3 Uveal Melanomas.

  34898573   Association of Melanoma-Risk Variants with Primary Melanoma Tumor Prognostic Characteristics and Melanoma-Specific Survival in the GEM Study.

  34981715   Expression of Programmed Cell Death 1 and Helios Genes Correlates With rs872071A>G and rs12203592C>T Single-Nucleotide Polymorphisms of InterferonRegulatory Factor 4 in Patients with T-Cell-Mediated Rejection of Renal Allograft.

  35176104   Unveiling forensically relevant biogeographic, phenotype and Y-chromosome SNP variation in Pakistani ethnic groups using a customized hybridisation enrichment forensic intelligence panel.