Table 2. Results for the best SNP of the top 25 genes in Stage 1: NFBC 1966, ECRHS, EGEA, and meta-analysis.
Chr: chromosome; EA: effect allele; EAF: effect allele frequency, calculated as weighted average across the three studies; β (standard error, SE): estimate of the per-allele effect on FVC (ml); I2: magnitude of the between-study heterogeneity of effect estimates
| SNP | Gene | Chr | Position | EA | EAF | NFBC1966(N = 5,218) | ECRHS(N = 1,662) | EGEA(N = 869) | Meta-analysis | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| β | SE | P | β | SE | P | β | SE | P | β | SE | P | I2 (%) | ||||||
| rs2820472 | WLS | 1 | 68,694,307 | C | 0.70 | 31.0 | 11.3 | 0.0061 | 30.3 | 21.7 | 0.1621 | -17.5 | 32.0 | 0.5851 | 26.5 | 9.6 | 0.0055 | 4 |
| rs832169 | PKP1 | 1 | 201,256,771 | A | 0.17 | 29.2 | 15.8 | 0.0646 | 50.0 | 22.4 | 0.0257 | 41.1 | 31.9 | 0.1984 | 36.9 | 12.0 | 0.0021 | 0 |
| rs7527525 | ACTN2 | 1 | 236,902,560 | C | 0.33 | 20.0 | 11.7 | 0.0875 | 33.6 | 20.2 | 0.0960 | 63.7 | 28.0 | 0.0238 | 28.1 | 9.5 | 0.0032 | 8 |
| rs3905417 | CTNNA2 | 2 | 80,181,443 | A | 0.23 | 29.9 | 12.2 | 0.0144 | 30.4 | 24.4 | 0.2127 | 45.7 | 34.0 | 0.1796 | 31.4 | 10.4 | 0.0025 | 0 |
| rs6754561 | SERPINE2 | 2 | 224,839,696 | C | 0.30 | -29.6 | 12.2 | 0.0151 | -23.0 | 19.3 | 0.2350 | -11.4 | 26.8 | 0.6707 | -25.6 | 9.6 | 0.0077 | 0 |
| rs11926758 | RARB | 3 | 25,552,252 | G | 0.94 | 52.5 | 22.9 | 0.0219 | 51.3 | 37.7 | 0.1734 | 48.8 | 48.1 | 0.3119 | 51.7 | 18.1 | 0.0044 | 0 |
| rs11716871 | TP63 | 3 | 189,582,501 | A | 0.92 | -55.4 | 19.1 | 0.0037 | -32.5 | 34.0 | 0.3404 | -36.1 | 47.2 | 0.4444 | -48.4 | 15.7 | 0.0021 | 0 |
| rs4712047 | SIRT5 | 6 | 13,590,185 | A | 0.66 | 34.0 | 11.2 | 0.0024 | 9.9 | 22.7 | 0.6622 | 27.9 | 32.3 | 0.3882 | 29.2 | 9.6 | 0.0023 | 0 |
| rs2722322 | SFRP4 | 7 | 37,948,714 | A | 0.15 | 51.7 | 15.4 | 0.0008 | 36.8 | 24.3 | 0.1298 | 16.3 | 35.3 | 0.6437 | 43.7 | 12.2 | 0.0003 | 0 |
| rs17172023 | GLI3 | 7 | 42,245,499 | C | 0.78 | 36.4 | 13.8 | 0.0082 | 25.2 | 24.4 | 0.3034 | 10.2 | 33.8 | 0.7644 | 31.1 | 11.3 | 0.0060 | 0 |
| rs1049337 | CAV1 | 7 | 116,200,587 | C | 0.70 | 33.6 | 11.6 | 0.0038 | 28.1 | 19.8 | 0.1562 | -10.3 | 29.3 | 0.7254 | 27.8 | 9.5 | 0.0034 | 0 |
| rs2707469 | WNT16 | 7 | 120,976,886 | A | 0.83 | 34.2 | 14.3 | 0.0168 | 23.6 | 25.9 | 0.3611 | 34.5 | 39.1 | 0.3787 | 32.0 | 11.9 | 0.0073 | 0 |
| rs12549242 | EYA1 | 8 | 72,216,430 | C | 0.14 | -38.6 | 16.1 | 0.0167 | -53.8 | 24.3 | 0.0267 | -72.2 | 43.4 | 0.0972 | -45.8 | 12.8 | 0.0004 | 0 |
| rs2812427 | DLG5 | 10 | 79,553,236 | A | 0.67 | 33.3 | 11.2 | 0.0029 | 14.8 | 19.8 | 0.4548 | 63.1 | 28.5 | 0.0274 | 32.4 | 9.2 | 0.0004 | 0 |
| rs1994450 | PDGFD | 11 | 103,797,349 | A | 0.13 | -41.9 | 18.0 | 0.0201 | -64.3 | 29.3 | 0.0283 | 2.1 | 38.9 | 0.9573 | -41.3 | 14.3 | 0.0038 | 0 |
| rs12708369 | NCOR2 | 12 | 124,875,577 | C | 0.56 | 25.1 | 11.5 | 0.0291 | 46.0 | 20.7 | 0.0263 | -9.1 | 30.1 | 0.7626 | 26.1 | 9.5 | 0.0062 | 13 |
| rs11865499 | KAT8 | 16 | 31,132,250 | A | 0.69 | 33.7 | 11.3 | 0.0029 | 20.4 | 19.9 | 0.3061 | 6.2 | 28.9 | 0.8304 | 27.9 | 9.3 | 0.0027 | 0 |
| rs1880756 | CRHR1 | 17 | 43,826,666 | C | 0.58 | -26.5 | 10.6 | 0.0122 | -28.6 | 19.4 | 0.1418 | -5.4 | 27.8 | 0.8472 | -24.8 | 8.8 | 0.0049 | 0 |
| rs948589 | SMAD4 | 18 | 48,586,184 | A | 0.91 | -47.2 | 19.0 | 0.0131 | -56.4 | 34.4 | 0.1013 | -78.5 | 50.7 | 0.1227 | -52.2 | 15.8 | 0.0010 | 0 |
| rs2425024 | MMP24 | 20 | 33,844,938 | A | 0.66 | 25.0 | 11.3 | 0.0274 | 23.9 | 19.4 | 0.2184 | 55.7 | 26.9 | 0.0390 | 28.4 | 9.2 | 0.0020 | 0 |
| rs6061580 | CDH4 | 20 | 60,058,986 | C | 0.92 | -60.4 | 22.3 | 0.0067 | -41.5 | 37.3 | 0.2657 | -7.6 | 47.0 | 0.8717 | -48.7 | 17.7 | 0.0060 | 0 |
| rs2051179 | RUNX1 | 21 | 36,326,553 | A | 0.45 | -32.0 | 10.9 | 0.0032 | -15.7 | 18.8 | 0.4038 | -16.1 | 25.9 | 0.5336 | -26.6 | 8.8 | 0.0026 | 0 |
| rs730265 | CLDN14 | 21 | 37,871,886 | A | 0.15 | -25.8 | 15.6 | 0.0973 | -41.8 | 24.2 | 0.0837 | -55.2 | 33.7 | 0.1020 | -33.7 | 12.2 | 0.0057 | 0 |
| rs2871029 | CLDN5 | 22 | 19,513,930 | A | 0.14 | 31.4 | 15.1 | 0.0375 | 66.5 | 27.6 | 0.0161 | -10.3 | 40.0 | 0.7969 | 34.6 | 12.6 | 0.0060 | 24 |
| rs5749524 | TIMP3 | 22 | 33,224,285 | C | 0.89 | 49.7 | 17.0 | 0.0035 | 22.4 | 29.3 | 0.4452 | 58.5 | 38.1 | 0.1259 | 44.9 | 13.7 | 0.0011 | 0 |