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@ARTICLE{Gler:304272,
author = {M. Güler$^*$ and F. Canzian$^*$},
title = {{C}lustering of lymphoid neoplasms by cell of origin,
somatic mutation and drug usage profiles: a multi-trait
genome-wide association study.},
journal = {Blood cancer journal},
volume = {15},
number = {1},
issn = {2044-5385},
address = {[London]},
publisher = {Springer Nature},
reportid = {DKFZ-2025-01813},
pages = {147},
year = {2025},
note = {#EA:C055#LA:C055#},
abstract = {Lymphoid neoplasms (LNs) are heterogeneous malignancies
arising from lymphoid cells, displaying diverse clinical and
molecular features. Although LNs are collectively frequent,
individual subtypes are rare, posing challenges for genetic
association studies. Indeed, genome-wide association studies
(GWAS) explained only a fraction of the heritability. Shared
genetic susceptibility and overlapping risk factors suggest
a partially common etiology across subtypes. We employed a
multi-trait GWAS strategy to improve discovery power by
leveraging pleiotropy among LN subtypes. We defined LN
phenoclusters based on cell of origin, somatic mutation
profiles, and approved therapeutic agents. Using data from
three large cohorts-the UK Biobank, Million Veteran Program,
and FinnGen-we analyzed 31,937 LN cases and 1.2 million
controls across 8 individual subtypes and 7 phenoclusters.
We replicated the novel associations in two independent
cohorts (All of Us and the Prostate, Lung, Colorectal, and
Ovarian Cancer Screening Trial) with 2892 LN cases and
165,791 controls. We identified 76 genome-wide significant
loci for individual subtypes or subtype clusters, including
20 novel associations. We identified the subtypes
contributing to each locus, putative candidate causal
variants, and genes underlying the associations, and found
enrichment of specific cell types, biological processes, and
drugs associated with LN risk genes. Overall, this study
identified new LN genetic risk loci and candidate genes,
providing insights that may inform novel therapeutic
approaches.},
keywords = {Humans / Genome-Wide Association Study / Mutation / Female
/ Male / Genetic Predisposition to Disease / Middle Aged /
Aged},
cin = {C055},
ddc = {610},
cid = {I:(DE-He78)C055-20160331},
pnm = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
pid = {G:(DE-HGF)POF4-313},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:40883272},
pmc = {pmc:PMC12397487},
doi = {10.1038/s41408-025-01351-4},
url = {https://inrepo02.dkfz.de/record/304272},
}