Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia

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. MorrisonLogan 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

Research output: Contribution to journalArticlepeer-review

51 Scopus citations


We performed a meta-analysis of 3 genomewide 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.

Original languageEnglish (US)
Pages (from-to)843-846
Number of pages4
Issue number4
StatePublished - Jul 26 2012

ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology


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