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

Authors :
Slager, Susan L.
Skibola, Christine F.
Di Bernardo, Maria Chiara
Conde, Lucia
Broderick, Peter
McDonnell, Shannon K.
Goldin, Lynn R.
Croft, Naomi
Holroyd, Amy
Harris, Shelley
Riby, Jacques
Serie, Daniel J.
Kay, Neil E.
Call, Timothy G.
Bracci, Paige M.
Halperin, Eran
Lanasa, Mark C.
Cunningham, Julie M.
Leis, Jose F.
Morrison, Vicki A.
Spector, Logan G.
Vachon, Celine M.
Shanafelt, Tait D.
Strom, Sara S.
Camp, Nicola J.
Weinberg, J. Brice
Matutes, Estella
Caporaso, Neil E.
Wade, Rachel
Dyer, Martin J. S.
Dearden, Claire
Cerhan, James R.
Catovsky, Daniel
Houlston, Richard S.
Source :
Blood; July 2012, Vol. 120 Issue: 4 p843-846, 4p
Publication Year :
2012

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.

Details

Language :
English
ISSN :
00064971 and 15280020
Volume :
120
Issue :
4
Database :
Supplemental Index
Journal :
Blood
Publication Type :
Periodical
Accession number :
ejs27962091
Full Text :
https://doi.org/10.1182/blood-2012-03-413591