Validation and functional characterization of GWAS-identified variants for chronic lymphocytic leukemia: a CRuCIAL study García Martín, Paloma Moñiz Díez, Ana Sánchez Maldonado, José Manuel Cabrera Serrano, Antonio José Hernández Mohedo, Francisca González Sierra, Pedro Antonio Cañadas Garre, Marisa López Nevot, Miguel Ángel Jurado Chacón, Manuel Sáinz Pérez, Juan This work was partially supported by the European Union's Horizon 2020 research and innovation program (grant No 856620); grants from the Instituto de Salud Carlos III (Madrid, Spain; PI17/02256 and PI20/01845); Consejeria de Economia, Conocimiento, Empresas y Universidad (Granada, Spain; A-CTS-448-UGR18); Consejeria de Transformacion Economica, Industria, Conocimiento y Universidades (Sevilla, Spain; PY20/01282); Generalitat de Catalunya (17SGR437); Gilead Sciences Fellowship (GLD17/00282); the "Xarxa de Bancs de tumors" sponsored by Pla Director d'Oncologia de Catalunya (XBTC); the Associazione Italiana per la Ricerca sul Cancro and Fondazione Cariplo (TRIDEO 16923 and AIRC IG21436); the Spanish Association Against Cancer (AECC) Scientific Foundation grant GCTRA18022MORE; and the Consortium for Biomedical Research in Epidemiology and Public Health (CIBERESP), action Genrisk. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. In conclusion, this study confirmed the association of 31 GWASidentified SNPs with CLL risk and shed some light on the function of some of these biomarkers in the modulation of TReg, B, and T cell differentiation and proliferation, blood concentrations of B cell-related proteins, cell survival, and the expression of immuneand non-immune-related loci. Though outside the scope of the current study, it is important to mention that additional functional studies using blood samples from CLL patients are still required to validate our findings and to decipher the exact biological mechanisms behind the observed associations. A potential limitation of this work was the relatively small population size of the CRuCIAL cohort that hampered the validation of the SNPs showing modest associations. 2022-06-08T07:49:20Z 2022-06-08T07:49:20Z 2022-05-17 journal article García-Martín, P... [et al.]. Validation and functional characterization of GWAS-identified variants for chronic lymphocytic leukemia: a CRuCIAL study. Blood Cancer J. 12, 79 (2022). [https://doi.org/10.1038/s41408-022-00676-8] http://hdl.handle.net/10481/75331 10.1038/s41408-022-00676-8 eng info:eu-repo/grantAgreement/EC/H2020/856620 http://creativecommons.org/licenses/by/3.0/es/ open access Atribución 3.0 España Nature