Common Variation at 6p21.31 (BAK1) Influences the Risk of Chronic Lymphocytic Leukemia

TitleCommon Variation at 6p21.31 (BAK1) Influences the Risk of Chronic Lymphocytic Leukemia
Publication TypeJournal Article
Year of Publication2012
AuthorsSlager, S.. L., Skibola C. F., & Halperin E.
Published inBlood
Volume120
Issue4
Page(s)843-846
Other Numbers3416
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.

Bibliographic Notes

Blood, Vol. 120, No. 4, pp. 843-846

Abbreviated Authors

S. L. Slager, C. F. Skibola, E. Halperin, et al.

ICSI Research Group

Algorithms

ICSI Publication Type

Article in journal or magazine