Common genetic variation at 15q25.2 impacts on chronic lymphocytic leukaemia risk

Dalemari Crowther-Swanepoel (1) , Maria Chiara Di Bernardo (1) , Krzysztof Jamroziak (2) , Lidia Karabon (3) , Irena Frydecka (3) , Silvia Deaglio (4) , Giovanni d'Arena (5) , Davide Rossi (6) , Gianluca Gaidano (6) , Bianca Olver (1) , Amy Lloyd (1) , Peter Broderick (7) , Luca Laurenti (8) , Zofia Szemraj-Rogucka (2) , Tadeusz Robak (9) , Daniel Catovsky (10) , Richard S Houlston (1)

1 Cancer Genetics
2 Department of Hematology
3 Institute of Immunology and Experimental Therapy
4 Laboratory of Immunogenetics
5 IRCCS - Istituto di Ricovero e Cura a Carattere Scientifico, Ospedale Casa Sollievo della Sofferenza [San Giovanni Rotondo]
6 Department of Clinical and Experimental Medicine, Amedeo Avogadro University of Eastern Piedmont
7 Cancer Genetics
8 Institute of Haematology
9 Department of Hematology
10 Haemato-oncology

A genome-wide association study of chronic lymphocytic leukaemia (CLL) suggested that common variants at 15q25.2 (rs783540) and 18q21.1 (rs1036935) influence CLL. To validate these associations and explore their relationship with CLL risk we genotyped case-control datasets from Poland, UK and Italy totalling 1,428 cases and 1,920 controls. Combined data from these and previously genotyped series (2,503 cases and 5,789 controls) provided evidence for association between 15q25.2 and 18q21.1 loci and CLL risk (Pcombined=1.10x10-7 and 1.30x10-5 respectively). These data provide further evidence for the involvement of common genetic variants in CLL risk and insight into the biological basis of disease development.

Mots clés: Medicine

Dalemari Crowther-Swanepoel, Maria Chiara Di Bernardo, Krzysztof Jamroziak, Lidia Karabon, Irena Frydecka, et al.. Common genetic variation at 15q25.2 impacts on chronic lymphocytic leukaemia risk. British Journal of Haematology, 2011, 154 (2), pp.229. ⟨10.1111/j.1365-2141.2011.08706.x⟩. ⟨hal-00639394⟩