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Blood. 2012 Jul 26;120(4):843-6. doi: 10.1182/blood-2012-03-413591. Epub 2012 Jun 13.

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

Author information

  • 1Mayo 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.

PMID:
22700719
[PubMed - indexed for MEDLINE]
PMCID:
PMC3412347
Free PMC Article

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