TY  - JOUR
AU  - Mies, Georgia
AU  - Tsao, Noah L
AU  - Houy, Alexandre
AU  - Coupland, Sarah E
AU  - Kalirai, Helen
AU  - Försti, Asta
AU  - Hemminki, Kari
AU  - Thomsen, Hauke
AU  - Stern, Marc-Henri
AU  - Shields, Carol L
AU  - Damrauer, Scott M
AU  - Ewens, Katheryn G
AU  - Ganguly, Arupa
AU  - Mathieson, Iain
TI  - Meta-analysis of uveal melanoma genome-wide association studies identifies novel risk loci and population effect size heterogeneity.
JO  - Human genetics and genomics advances
VL  - 6
IS  - 3
SN  - 2666-2477
CY  - Cambridge, Ma.
PB  - Cell Press
M1  - DKFZ-2025-01197
SP  - 100465
PY  - 2025
N1  - Volume 6, Issue 3, 10 July 2025, 100465
AB  - 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 5000 years explains about 73
LB  - PUB:(DE-HGF)16
C6  - pmid:40495383
DO  - DOI:10.1016/j.xhgg.2025.100465
UR  - https://inrepo02.dkfz.de/record/301998
ER  -