Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia
Year: 2012
Type: article
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.
Source: Blood
Authors: Susan L. Slager, Christine F. Skibola, Maria Chiara Di Bernardo, Lucia Conde, Peter Broderick, Shannon K. McDonnell, Lynn R. Goldin, Naomi Croft, Amy Holroyd, Shelley Harris, Jacques Riby, Daniel J. Serie, Neil E. Kay, Timothy G. Call, Paige M. Bracci, Eran Halperin, Mark C. Lanasa, Julie M. Cunningham, Jose F. Leis, Vicki A. Morrison, Logan G. Spector, Celine M. Vachon, Tait D. Shanafelt, Sara S. Strom, Nicola J. Camp, J. Brice Weinberg, Estella Matutes, Neil E. Caporaso, Rachel Wade, Martin J. S. Dyer, Claire Dearden, James R. Cerhan, Daniel Catovsky, Richard S. Houlston
Institutions: Mayo Clinic, University of California, Berkeley, Institute of Cancer Research, National Cancer Institute, Division of Cancer Epidemiology and Genetics, University of California, San Francisco, Tel Aviv University, Duke Medical Center, University of Minnesota, Minneapolis VA Health Care System, Minneapolis VA Medical Center, The University of Texas MD Anderson Cancer Center, University of Utah, Durham VA Medical Center, University of Oxford, University of Leicester
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: green
Awards: G1342751976, G1463712292, G169599190, G1718622991, G2038983678, G2779496123, G2794701286, G2798125399, G3709138859, EPIDEMIOLOGY OF NON-HODGKIN'S LYMPHOMA &RETROVIRAL TEST, G3970052678, EPIDEMIOLOGY OF NON HODGKINS'S LYMPHOMA DATA ANALYSIS, G610676220, Molecular Pathogenesis of Monoclonal B Cell Lymphocytosis and CLL, G6622425196, G7019267552, Pooling and expansion of Chronic Lymphocytic Leukemia GWA data, G8866916758
OpenAlex ID: W1980795503