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GWAS Study

Genome-wide association study of statin-induced myopathy in patients recruited using the UK clinical practice research datalink.

Carr DF, Francis B, Jorgensen AL et al.

31220337 PubMed ID
GWAS Study Type
2586 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

CD
Carr DF
FB
Francis B
JA
Jorgensen AL
ZE
Zhang E
CH
Chinoy H
HS
Heckbert SR
BJ
Bis JC
BJ
Brody JA
FJ
Floyd JS
PB
Psaty BM
MM
Molokhia M
LM
Lapeyre-Mestre M
CA
Conforti A
AA
Alfirevic A
VS
van Staa T
PM
Pirmohamed M
Chapter II

Abstract

Summary of the research findings

Statins can be associated with myopathy. We have undertaken a genomewide association study (GWAS) to discover and validate genetic risk factors for statin-induced myopathy in a "real-world" setting. One hundred thirty-five patients with statin myopathy recruited via the UK Clinical Practice Research Datalink were genotyped using the Illumina OmniExpress Exome version 1.0 Bead Chip and compared with the Wellcome Trust Case-Control Consortium (n = 2,501). Nominally statistically significant single nucleotide polymorphism (SNP) signals in the GWAS (P < 5 × 10-5 ) were further evaluated in several independent cohorts (comprising 332 cases and 449 drug-tolerant controls). Only one (rs4149056/c.521C>T in the SLCO1B1 gene) SNP was genomewide significant in the severe myopathy (creatine kinase > 10 × upper limit of normal or rhabdomyolysis) group (P = 2.55 × 10-9 ; odds ratio 5.15; 95% confidence interval 3.13-8.45). The association with SLCO1B1 was present for several statins and replicated in the independent validation cohorts. The data highlight the role of SLCO1B1 c.521C>T SNP as a replicable genetic risk factor for statin myopathy. No other novel genetic risk factors with a similar effect size were identified.

85 European ancestry cases, 2,501 controls

Chapter III

Study Statistics

Key metrics and study information

2586
Total Participants
GWAS
Study Type
No
Replicated
European
Ancestry
U.K.
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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