rs4911414

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

suntan

Zhang M et al. “Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.” Human Molecular Genetics 22(14):2948-59 (2013)
Allele G
OR 0.07
p 4.0e-9
N 9,678
Large GWAS
European
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Research that mentions this SNP (2)

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Variants at chromosome 20 (ASIP locus) and melanoma risk
AssociationN=1,033Maccioni L. et al.(2013)· International Journal of Cancer

This study examined associations between sun-sensitive pigmentary gene variants and serum PSA levels in 1033 older Australian men. Variants in SLC45A2 (rs28777: -19.6%, rs16891982: -17.3%) were associated with lower PSA levels in all men. Variants in MC1R (rs1805007) and ASIP (rs4911414) showed significant interactions with birth region, with higher PSA levels in ANZ-born men carrying the variants. Post-hoc analysis found increased testosterone in MC1R rs1805007 carriers and elevated dihydrotestosterone in ASIP rs1015362 carriers.

Traits studied:Pigmentation phenotypeProstate cancerSerum PSA levelsSun sensitivity
PubMedDOIMetascience Observatory
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Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians
AssociationN=1,673Hongmei Nan et al.(2009)· International Journal of Cancer

Nested case-control study of 1,673 Caucasian women examining 15 SNPs in pigmentation genes. TYR Arg402Gln (rs1126809) and SLC45A2 Phe374Leu (rs16891982) were significantly associated with skin color and tanning ability. ASIP haplotype (rs4911414[T], rs1015362[G]) increased melanoma risk (OR 1.68) and SCC risk (OR 1.54), while TYRP1 rs1408799 and SLC45A2 -1721 C>G (rs13289) showed protective effects against melanoma (OR 0.77, 0.75 respectively). No associations remained significant after Bonferroni correction.

Traits studied:Basal cell carcinomaHair colorMelanomaSkin colorSquamous cell carcinomaTanning ability
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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