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GWAS Study

Genome-wide analysis of clopidogrel active metabolite levels identifies novel variants that influence antiplatelet response.

Backman JD, O'Connell JR, Tanner K et al.

28207573 PubMed ID
GWAS Study Type
513 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

BJ
Backman JD
OJ
O'Connell JR
TK
Tanner K
PC
Peer CJ
FW
Figg WD
SS
Spencer SD
MB
Mitchell BD
SA
Shuldiner AR
YL
Yerges-Armstrong LM
HR
Horenstein RB
LJ
Lewis JP
Chapter II

Abstract

Summary of the research findings

Clopidogrel is one of the most commonly used therapeutics for the secondary prevention of cardiovascular events in patients with acute coronary syndromes. However, considerable interindividual variation in clopidogrel response has been documented, resulting in suboptimal therapy and an increased risk of recurrent events for some patients. In this investigation, we carried out the first genome-wide association study of circulating clopidogrel active metabolite levels in 513 healthy participants to directly measure clopidogrel pharmacokinetics. We observed that the CYP2C19 locus was the strongest genetic determinant of active metabolite formation (P=9.5×10). In addition, we identified novel genome-wide significant variants on chromosomes 3p25 (rs187941554, P=3.3×10) and 17q11 (rs80343429, P=1.3×10), as well as six additional loci that showed suggestive evidence of association (P≤1.0×10). Four of these loci showed nominal associations with on-clopidogrel ADP-stimulated platelet aggregation (P≤0.05). Evaluation of clopidogrel active metabolite concentration may help identify novel genetic determinants of clopidogrel response, which has implications for the development of novel therapeutics and improved antiplatelet treatment for at-risk patients in the future.

513 Amish individuals

Chapter III

Study Statistics

Key metrics and study information

513
Total Participants
GWAS
Study Type
No
Replicated
European
Ancestry
U.S.
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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