Title |
Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia
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Published in |
Blood, June 2012
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DOI | 10.1182/blood-2012-03-413591 |
Pubmed ID | |
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 |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Australia | 1 | 50% |
Saudi Arabia | 1 | 50% |
Demographic breakdown
Type | Count | As % |
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Scientists | 1 | 50% |
Members of the public | 1 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 58 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 12 | 21% |
Student > Ph. D. Student | 10 | 17% |
Other | 9 | 16% |
Student > Master | 6 | 10% |
Professor | 3 | 5% |
Other | 7 | 12% |
Unknown | 11 | 19% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 15 | 26% |
Agricultural and Biological Sciences | 10 | 17% |
Biochemistry, Genetics and Molecular Biology | 7 | 12% |
Social Sciences | 5 | 9% |
Computer Science | 2 | 3% |
Other | 5 | 9% |
Unknown | 14 | 24% |