Genetics and genomics of dilated cardiomyopathy and systolic heart failure

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

Study	Study design	Disease^a	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)	Intergenic Intergenic	–	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 Intronic	308 cases 2314 controls	HSPB7 FRMD4B
Villard et al. [39]	Case control	DCM	1179 DCM patients 1108 controls	rs10927875 rs2234962	Intronic Coding	1165 DCM patients 1302 controls	ZBTB17 BAG 3
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	HCG22 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	HSPB7

^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

ISSN: 1756-994X