rs117789363 - AP2B1

Magnitude 4.5 · 1 study on file

Reported associations

• Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1. - Melanoma research (2020) · Thomsen H, Chattopadhyay S, Hoffmann P, Nöthen MM, Kalirai H, Coupland SE, Jonas JB, Hemminki K, Försti A · PubMed 31626034

  Uveal melanoma is a life-threatening disease for which data on germline predisposition are essentially limited to mutations in the BAP1 gene. Many risk factors are shared between uveal melanoma and cutaneous melanoma, and these include fair skin color and light eye color. We carried out a genome-wide association study on 590 uveal melanoma patients and 5199 controls. Using a P-value limit of 10 we identified 11 loci with related odds ratios for the risk alleles ranging from 1.32 to 1.78. The smallest P-value in the overall analysis reached 1.07 × 10 for rs3759710 at 14q32.11, which is intronic to TDP1 (tyrosyl-DNA phosphodiesterase 1). This locus emerged as a genome-wide significant association for uveal melanoma clinical subtypes with any chromosomal aberrations (P = 10) and presence of

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