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) |
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 |