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. 2024 Mar 18;15:2407. doi: 10.1038/s41467-024-46639-4

Table 1.

Genome-wide significant loci for calcific aortic valve stenosis from the meta-analysis

Locus rsID Chr Pos RA/NRA RAF OR (95% CI) P I2 (%) PHet Gene Novel
1 rs2077522 1 87917746 C/T 0.592 1.08 (1.06–1.11) 3.1E−10 0.0 0.60 LMO4 Yes
2 rs6702619 1 100046246 G/T 0.496 1.18 (1.15–1.21) 3.9E−40 0.0 0.51 PALMD No
3 rs1016819 1 170645774 G/C 0.341 1.11 (1.08–1.14) 1.2E−14 0.0 0.81 PRRX1 No
4 rs682112 1 201746768 A/G 0.398 1.11 (1.08–1.14) 3.2E−14 49.9 0.09 NAV1 No
5 rs771264 2 7129124 C/T 0.496 1.07 (1.04–1.10) 5.0E−08 69.1 0.0064 RNF144A Yes
6 rs62139061 2 65498805 C/T 0.300 1.09 (1.06–1.12) 4.0E−10 24.6 0.25 ACTR2 No
7 rs72854462 2 145720139 A/G 0.735 1.15 (1.12–1.19) 1.7E−22 16.4 0.31 ZEB2a No
8 rs111825950 3 153748291 T/TTTCA 0.197 1.11 (1.08–1.15) 1.1E−10 0.0 0.49 ARHGEF26 No
9 rs11330858 3 169202578 A/AT 0.489 1.08 (1.05–1.11) 1.3E−09 0.0 0.43 MECOM No
10 rs1706003 3 194299967 G/T 0.542 1.09 (1.06–1.12) 3.1E−11 0.0 0.69 TMEM44 Yes
11 rs3103933 3 195485440 A/G 0.305 1.12 (1.08–1.16) 6.1E−09 33.6 0.20 MUC4 Yes
12 rs147558377 4 55113623 G/C 0.149 1.10 (1.07–1.14) 2.4E−08 0.0 0.79 PDGFRA Yes
13 rs182432302 5 45560981 T/C 0.970 1.33 (1.20–1.47) 2.3E−08 0.0 0.98 HCN1 Yes
14 rs1965668 5 172653401 G/C 0.687 1.08 (1.05–1.11) 1.6E−08 0.0 0.65 NKX2-5 Yes
15 rs10455872 6 161010118 G/A 0.063 1.53 (1.45–1.61) 3.0E−61 52.3 0.063 LPA No
16 rs7804522 7 19458058 C/G 0.421 1.07 (1.05–1.10) 1.9E−08 28.4 0.22 FERD3L Yes
17 rs1800797 7 22766221 A/G 0.480 1.12 (1.09–1.15) 1.3E−19 0.0 0.96 IL6 No
18 rs2286427 7 76024520 T/C 0.162 1.10 (1.06–1.14) 4.6E−08 0.0 0.91 SSC4D Yes
19 rs11570891 8 19822810 C/T 0.894 1.20 (1.13–1.28) 7.2E−09 0.0 0.62 LPL Yes
20 rs17810852 9 136365075 G/A 0.458 1.08 (1.05–1.10) 1.1E−08 0.0 0.43 MYMK Yes
21 rs187229435 11 805953 C/G 0.021 1.29 (1.19–1.40) 1.6E−09 56.3 0.043 PIDD1 Yes
22 rs174551 11 61573684 T/C 0.620 1.09 (1.06–1.12) 3.1E−10 0.6 0.40 FADS1 No
23 rs12270146 11 69163441 G/A 0.322 1.09 (1.06–1.12) 8.3E−10 0.0 0.89 MYEOV Yes
24 rs10770612 12 20230639 A/G 0.779 1.12 (1.08–1.15) 6.6E−13 40.9 0.13 PDE3A Yes
25 rs17766960 12 66407417 G/T 0.816 1.10 (1.07–1.14) 1.6E−09 0.0 0.61 HMGA2 Yes
26 rs12429277 13 37445944 A/C 0.247 1.08 (1.05–1.12) 2.3E−08 0.0 0.50 SMAD9 Yes
27 rs28744617 15 42981022 A/G 0.763 1.09 (1.06–1.12) 2.2E−08 0.0 0.90 STARD9 No
28 rs4646642 15 58246916 A/G 0.446 1.08 (1.05–1.10) 4.2E−09 0.0 0.72 ALDH1A2 Yes
29 rs2869553 15 79012613 G/T 0.240 1.09 (1.05–1.12) 2.9E−08 76.0 0.00086 ADAMTS7 Yes
30 rs150429885 16 75498252 CT/C 0.613 1.08 (1.06–1.11) 1.9E−09 0.0 0.97 TMEM170A No
31 rs6511720 19 11202306 G/T 0.892 1.12 (1.08–1.17) 2.5E−08 0.0 0.89 LDLR Yes
32 rs61736786 22 30189642 T/C 0.043 1.19 (1.12–1.26) 3.5E−08 35.5 0.17 ASCC2 Yes

The association of each variant with calcific aortic valve stenosis was obtained from an inverse-variance weighted fixed-effect meta-analysis combining the effect per allele in the cohorts with available data.

Genes in bold are significant in MAGMA gene-based analysis (P < 0.00039 corresponding to false discovery rate <5%).

Pos position according to GRCh37, RA risk allele, NRA non-risk allele, RAF risk allele frequency, I2 heterogeneity statistic, PHet heterogeneity p-value (Cochran’s Q-test), Gene Nearest protein-coding gene.

aLocated in lncRNA TEX41