% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@ARTICLE{Mies:301998,
      author       = {G. Mies and N. L. Tsao and A. Houy and S. E. Coupland and
                      H. Kalirai and A. Försti$^*$ and K. Hemminki$^*$ and H.
                      Thomsen and M.-H. Stern and C. L. Shields and S. M. Damrauer
                      and K. G. Ewens and A. Ganguly and I. Mathieson},
      title        = {{M}eta-analysis of uveal melanoma genome-wide association
                      studies identifies novel risk loci and population effect
                      size heterogeneity.},
      journal      = {Human genetics and genomics advances},
      volume       = {6},
      number       = {3},
      issn         = {2666-2477},
      address      = {Cambridge, Ma.},
      publisher    = {Cell Press},
      reportid     = {DKFZ-2025-01197},
      pages        = {100465},
      year         = {2025},
      note         = {Volume 6, Issue 3, 10 July 2025, 100465},
      abstract     = {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 $73\%$ of the difference in UM incidence
                      between Northern and Southern Europe. We find evidence of
                      effect size heterogeneity at significant loci across
                      cohorts, in particular, a weaker association between eye
                      pigmentation and UM in a Finnish cohort. Finally, we confirm
                      differential effect sizes between uveal melanoma cases with
                      and without loss of chromosome 3, the major determinant of
                      metastatic risk. Our study identifies novel germline risk
                      factors for UM and highlights genetic and environmental
                      heterogeneity in its etiology.},
      cin          = {B062 / HD01 / Z999},
      ddc          = {610},
      cid          = {I:(DE-He78)B062-20160331 / I:(DE-He78)HD01-20160331 /
                      I:(DE-He78)Z999-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40495383},
      doi          = {10.1016/j.xhgg.2025.100465},
      url          = {https://inrepo02.dkfz.de/record/301998},
}