rs11707457 - LSM3 - LINC01267

Magnitude 2.0 · 1 study on file

Reported associations

  • Meta-analysis of uveal melanoma genome-wide association studies identifies novel risk loci and population effect size heterogeneity - HGG advances (2025) · Mies G, Tsao NL, Houy A, Coupland SE, Kalirai H, Försti A, Hemminki K, Thomsen H, Stern MH, Shields CL, Damrauer SM, Ewens KG, Ganguly A, Mathieson I · PubMed 40495383

    ABSTRACT: Summary Uveal melanoma (UM) is a rare but frequently metastasizing cancer. Genome-wide association studies have identified three common genome-wide significant germline risk loci. Here, we perform a genome-wide association study on 401 new cases and conduct a meta-analysis with three independent previously published cohorts for a total sample size of 2,426 cases. We confirm the three previously identified risk loci and identify four additional genome-wide significant loci. We find that eye pigmentation-decreasing variants are systematically associated with increased UM risk and that selection for lighter pigmentation in the past 5,000 years explains about 73% of the difference in UM incidence between Northern and Southern Europe. We find evidence of effect size heterogeneity at s


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