Table 1. Lead SNPs and effect estimates for genome-wide significant loci (P < 1 × 10-8) in the HCM single-trait and multi-trait analyses.
Locus | Lead SNP | GRCh37 | Nearest gene | RA | NRA | RAF | OR | 95%CI | P | P (MTAG11) | P replication |
---|---|---|---|---|---|---|---|---|---|---|---|
HCM1 | rs10927886 | 1:16339313 | HSPB7 | G | C | 0.41 | 1.28 | 1.18-1.38 | 1.8E-09 | 7.4E-13 | 2.5E-13 |
HCM2 | rs12212795 | 6:118654308 | SLC35F1 | C | G | 0.06 | 1.69 | 1.43-2.01 | 1.6E-09 | 1.7E-10 | 6.7E-11 |
HCM3 | rs17099139 | 10:121419487 | BAG3 | G | C | 0.29 | 1.46 | 1.34-1.59 | 7.2E-18 | 1.0E-24 | 1.3E-22 |
HCM4* | rs9928278 | 16:2152651 | PKD1 | C | T | 0.18 | 1.45 | 1.28-1.65 | 9.5E-09 | 5.9E-07 | 2.7E-01 |
HCM5 | rs1378358 | 17:44787312 | NSF | T | C | 0.23 | 1.34 | 1.22-1.47 | 1.5E-09 | 4.7E-13 | 4.7E-08 |
HCM6 | rs503274 | 18:34253745 | FHOD3 | C | T | 0.31 | 1.52 | 1.40-1.66 | 1.7E-21 | 2.4E-21 | 4.3E-19 |
HCM7 (MTAG11) | rs9647379 | 3:171785168 | FNDC3B | C | G | 0.42 | 1.22 | 1.12-1.33 | 6.8E-06 | 9.5E-09 | 2.4E-06 |
HCM8 (MTAG11) | rs2191445 | 5:57011469 | ACTBL2 | T | A | 0.78 | 1.29 | 1.17-1.43 | 8.0E-07 | 3.5E-09 | 2.6E-05 |
HCM9 (MTAG11) | rs4385202 | 5:138743256 | DNAJC18 | A | G | 0.31 | 1.25 | 1.15-1.37 | 6.0E-07 | 3.0E-09 | 7.3E-05 |
HCM10 (MTAG11) | rs66761782 | 6:36636080 | CDKN1A | C | T | 0.26 | 1.29 | 1.18-1.41 | 3.4E-08 | 2.1E-19 | 1.3E-08 |
HCM11 (MTAG11) | rs60871386 | 7:128430437 | CCDC136 | T | G | 0.10 | 1.43 | 1.25-1.64 | 3.4E-07 | 2.2E-09 | 1.4E-04 |
HCM12 (MTAG11) | rs3740293 | 10:75406141 | SYNPO2L | C | A | 0.15 | 1.33 | 1.19-1.49 | 4.8E-07 | 4.6E-11 | 8.5E-06 |
HCM13 (MTAG11) | rs11196078 | 10:114487812 | VTI1A | A | G | 0.26 | 1.26 | 1.15-1.38 | 5.2E-07 | 1.6E-10 | 6.7E-07 |
HCM14 (MTAG11) | rs11073729 | 15:85350081 | ZNF592 | C | T | 0.46 | 1.20 | 1.11-1.30 | 4.2E-06 | 9.9E-17 | 3.6E-07 |
HCM15 (MTAG11) | rs9892651 | 17:64303793 | PRKCA | T | C | 0.59 | 1.25 | 1.16-1.36 | 2.8E-08 | 3.0E-10 | 2.4E-09 |
HCM16 (MTAG11) | rs2186370 | 22:24171305 | SMARCB1 | A | G | 0.22 | 1.21 | 1.09-1.34 | 3.5E-04 | 2.5E-15 | 5.5E-15 |
Locus HCM4 is not replicated. Abbreviations: 95%CI, 95% confidence interval; GRCh37, genomic position in GRCh37; MTAG11, Multi-Trait Analysis of GWAS summary statistics from HCM, DCM, and nine quantitative LV traits; NRA, non-risk allele; OR, odds ratio for each risk allele in the single trait HCM analysis; P, single trait analysis P value; P (MTAG11), multi-trait analysis P value for HCM; P replication, P value in the replication dataset; RA, risk allele; RAF, risk allele frequency.