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GWAS Study

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

Slager SL, Skibola CF, Di Bernardo MC et al.

22700719 PubMed ID
GWAS Study Type
7760 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

SS
Slager SL
SC
Skibola CF
DB
Di Bernardo MC
CL
Conde L
BP
Broderick P
MS
McDonnell SK
GL
Goldin LR
CN
Croft N
HA
Holroyd A
HS
Harris S
RJ
Riby J
SD
Serie DJ
KN
Kay NE
CT
Call TG
BP
Bracci PM
HE
Halperin E
LM
Lanasa MC
CJ
Cunningham JM
LJ
Leis JF
MV
Morrison VA
SL
Spector LG
VC
Vachon CM
ST
Shanafelt TD
SS
Strom SS
CN
Camp NJ
WJ
Weinberg JB
ME
Matutes E
CN
Caporaso NE
WR
Wade R
DM
Dyer MJ
DC
Dearden C
CJ
Cerhan JR
CD
Catovsky D
HR
Houlston RS
Chapter II

Abstract

Summary of the research findings

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.

1,121 European ancestry cases, 3,745 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

7760
Total Participants
GWAS
Study Type
Yes
Replicated
861 European ancestry cases, 2,033 European ancestry controls
Replication Participants
European
Ancestry
U.K., U.S.
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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