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Table 1 Summary of genome-wide association studies for heart failure and dilated cardiomyopathy

From: Genetics and genomics of dilated cardiomyopathy and systolic heart failure

Study Study design Diseasea Discovery cohort SNP SNP location Replication cohort Nearest gene
CHARGE Consortium [32] Meta-analysis
Case control
Incident systolic heart failure 20,926 European-ancestry individuals and 2895 African-ancestry individuals followed up for incident heart failure events rs10519210 (European)
rs11172782 (African)
USP3 (European) LRIG3 (African)
Cappola et al. [38] Case control; 2000 genes
pre-selected for cardiovascular relevance
Advanced heart failure 1590 Caucasian patients with heart failure
577 controls
rs1739843 rs6787362 Intronic
308 cases 2314 controls HSPB7
Villard et al. [39] Case control DCM 1179 DCM patients
1108 controls
rs10927875 rs2234962 Intronic
1165 DCM patients 1302 controls ZBTB17
Meder et al. [73] Case control DCM 909 DCM patients
2120 controls
rs9262636 Intronic Within study, between cohorts
First replication - in 2597 DCM cases, 4867 controls
Second replication; lead SNP was replicated in a cohort of 637 DCM cases and 723 healthy controls
eQTL for class I and class II MHC receptors
Stark et al. [41] Case control; 2000 genes pre-selected for cardiovascular relevance Idiopathic DCM 664 DCM cases
1874 controls
rs1739843 Intronic Genotyping of lead SNPs in three independent case-control studies of idiopathic DCM
Cases 564/433/249
Controls 981/395/380
  1. aFor heart failure, the table focuses on the two main heart failure-specific studies with the strongest evidence. Refer to the main text for discussion of studies evaluating cardiac endophenotypes, quantitative proxy markers, or subgenome array studies