A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia.

Maria Chiara Di Bernardo; Dalemari Crowther-Swanepoel; Peter Broderick; Emily Webb ORCID logo; Gabrielle Sellick; Ruth Wild; Kate Sullivan; Jayaram Vijayakrishnan; Yufei Wang; Alan M Pittman; +19 more... Nicola J Sunter; Andrew G Hall; Martin JS Dyer; Estella Matutes; Claire Dearden; Tryfonia Mainou-Fowler; Graham H Jackson; Geoffrey Summerfield; Robert J Harris; Andrew R Pettitt; Peter Hillmen; David J Allsup; James R Bailey; Guy Pratt; Chris Pepper; Chris Fegan; James M Allan; Daniel Catovsky; Richard S Houlston; (2008) A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia. Nature genetics, 40 (10). pp. 1204-1210. ISSN 1061-4036 DOI: 10.1038/ng.219
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We conducted a genome-wide association study of 299,983 tagging SNPs for chronic lymphocytic leukemia (CLL) and performed validation in two additional series totaling 1,529 cases and 3,115 controls. We identified six previously unreported CLL risk loci at 2q13 (rs17483466; P = 2.36 x 10(-10)), 2q37.1 (rs13397985, SP140; P = 5.40 x 10(-10)), 6p25.3 (rs872071, IRF4; P = 1.91 x 10(-20)), 11q24.1 (rs735665; P = 3.78 x 10(-12)), 15q23 (rs7176508; P = 4.54 x 10(-12)) and 19q13.32 (rs11083846, PRKD2; P = 3.96 x 10(-9)). These data provide the first evidence for the existence of common, low-penetrance susceptibility to a hematological malignancy and new insights into disease causation in CLL.

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