Table 1.
Variants associated with heart failure at genome-wide significance.
| rsID | Chr | Position (hg19) | Nearest gene(s)a | Function | Risk/ref allele | RAF (%) | OR (95% CI) | P value | I2HET | PHET |
|---|---|---|---|---|---|---|---|---|---|---|
| rs660240 | 1 | 109817838 | CELSR2 | UTR3 | C/T | 0.79 | 1.06 (1.04–1.08) | 3.25E-10 | 0 | 0.513 |
| rs17042102 | 4 | 111668626 | PITX2, FAM241A | Intergenic | A/G | 0.12 | 1.12 (1.09–1.14) | 5.71E-20 | 43.1 | 0.008 |
| rs11745324 | 5 | 137012171 | KLHL3 | Intronic | G/A | 0.77 | 1.05 (1.03–1.07) | 2.35E-08 | 5.7 | 0.381 |
| rs4135240 | 6 | 36647680 | CDKN1A | Intronic | T/C | 0.66 | 1.05 (1.03–1.07) | 6.84E-09 | 43.8 | 0.009 |
| rs55730499 | 6 | 161005610 | LPA | Intronic | T/C | 0.07 | 1.11 (1.08–1.14) | 1.83E-11 | 21.1 | 0.164 |
| rs140570886 | 6 | 161013013 | LPA | Intronic | C/T | 0.02 | 1.24 (1.16–1.3) | 7.69E-11 | 24.8 | 0.133 |
| rs1556516 | 9 | 22100176 | 9p21/CDKN2B-AS1 | ncRNA | C/G | 0.48 | 1.06 (1.05–1.08) | 1.57E-15 | 12.8 | 0.269 |
| rs600038 | 9 | 136151806 | ABO, SURF1 | Intergenic | C/T | 0.21 | 1.06 (1.04–1.08) | 3.68E-09 | 0 | 0.729 |
| rs4746140 | 10 | 75417249 | SYNPO2L, AGAP5 | Intergenic | G/C | 0.85 | 1.07 (1.05–1.09) | 1.10E-09 | 9.7 | 0.319 |
| rs17617337 | 10 | 121426884 | BAG3 | Intronic | C/T | 0.78 | 1.06 (1.04–1.08) | 3.65E-09 | 55 | 2.1E-4 |
| rs4766578 | 12 | 111904371 | ATXN2 | Intronic | T/A | 0.47 | 1.04 (1.03–1.06) | 4.90E-08 | 10.6 | 0.308 |
| rs56094641 | 16 | 53806453 | FTO | Intronic | G/A | 0.42 | 1.05 (1.03–1.06) | 1.21E-08 | 17.4 | 0.215 |
The table shows the 12 independent variants associated with HF at the genome-wide significance level (P < 5 × 10−8) in the meta-analysis of 29 studies. Meta-analyses were carried out using an IVW fixed-effect approach. The I2HET describes the percentage of variation across the 29 studies that is due to heterogeneity. PHET was derived from a Cochran’s Q-test (two-sided) for heterogeneity
Chr, chromosome; ncRNA, non-coding RNA; ref, reference; RAF, risk allele frequency; OR, odds ratio; CI, confidence intervals; HET, heterogeneity; I2, I-squared
aNearest gene with a functional protein or RNA (e.g., anti-sense RNA) product that either overlaps with the sentinel variant, or for intergenic variants, the nearest genes up- and downstream, respectively (separated by comma)