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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.

Original publication

DOI

10.1182/blood-2012-03-413591

Type

Journal article

Journal

Blood

Publication Date

26/07/2012

Volume

120

Pages

843 - 846

Keywords

Adolescent, Adult, Aged, Aged, 80 and over, Antineoplastic Agents, Benzamides, Chromosome Aberrations, Cytogenetic Analysis, Female, Humans, Imatinib Mesylate, In Situ Hybridization, Fluorescence, Leukemia, Myeloid, Chronic-Phase, Male, Middle Aged, Philadelphia Chromosome, Piperazines, Prognosis, Prospective Studies, Pyrimidines, RNA, Messenger, Real-Time Polymerase Chain Reaction, Reverse Transcriptase Polymerase Chain Reaction, Survival Rate, Young Adult