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

Weperformedameta-analysisof3genome-wide association studies to identify additional common variants influencing chronic lymphocyticleukemia(CLL)risk.Thediscov-ery phase was composed of genome-wide association study data from 1121 cases and 3745controls.Replicationanalysiswasper-formed 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 (cid:1) 9.47 (cid:2) 10 (cid:3) 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 in-sightintothebiologicbasisofdiseasedevel- opment.( Blood .2012;120(4):843-846) direct sequencing of polymorphisms

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