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Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia |
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| Authors: | Slager Susan L Skibola Christine F Di Bernardo Maria Chiara Conde Lucia Broderick Peter McDonnell Shannon K Goldin Lynn R Croft Naomi Holroyd Amy Harris Shelley Riby Jacques Serie Daniel J Kay Neil E Call Timothy G Bracci Paige M Halperin Eran Lanasa Mark C Cunningham Julie M Leis Jose F Morrison Vicki A Spector Logan G Vachon Celine M Shanafelt Tait D Strom Sara S Camp Nicola J Weinberg J Brice Matutes Estella Caporaso Neil E Wade Rachel Dyer Martin J S Dearden Claire Cerhan James R Catovsky Daniel Houlston Richard S |
| Affiliation: | Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA. slager@mayo.edu |
| Abstract: | We performed a meta-analysis of 3 genome-wide association studies to identify additional common variants influencing chronic lymphocytic leukemia (CLL) risk. The discovery phase was composed of genome-wide association study data from 1121 cases and 3745 controls. Replication analysis was performed in 861 cases and 2033 controls. We identified a novel CLL risk locus at 6p21.33 (rs210142; intronic to the BAK1 gene, BCL2 antagonist killer 1; P = 9.47 × 10(-16)). A strong relationship between risk genotype and reduced BAK1 expression was shown in lymphoblastoid cell lines. This finding provides additional support for polygenic inheritance to CLL and provides further insight into the biologic basis of disease development. |
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