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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Slager, SL; Skibola, CF; Di Bernardo, MC; Conde, L; Broderick, P; McDonnell, SK; Goldin, LR; Croft, N; Holroyd, A; Harris, S; Riby, J; Serie, DJ; Kay, NE; Call, TG; Bracci, PM; Halperin, E; Lanasa, MC; Cunningham, JM; Leis, JF; Morrison, VA; Spector, LG; Vachon, CM; Shanafelt, TD; Strom, SS; Camp, NJ; Weinberg, JB; Matutes, E; Caporaso, NE; Wade, R; Dyer, MJS; Dearden, C; Cerhan, JR; Catovsky, D; Houlston, RS

Published Date

  • July 26, 2012

Published In

Volume / Issue

  • 120 / 4

Start / End Page

  • 843 - 846

PubMed ID

  • 22700719

Pubmed Central ID

  • PMC3412347

Electronic International Standard Serial Number (EISSN)

  • 1528-0020

Digital Object Identifier (DOI)

  • 10.1182/blood-2012-03-413591


  • eng

Conference Location

  • United States