Table 1. COPD association results in stage 1 and 2 for lung function sentinel variants analysed in stage 2.
rs number | GWAS gene | Ref allele | Alt allele | Calling algorithm | Stage 1 | Stage 2 | ||||
---|---|---|---|---|---|---|---|---|---|---|
Alt allele freq in cases | Alt allele freq in controls | OR | P-value | OR | P-value | |||||
rs1344555 | MECOM | C | T | SNVer | 0.238 | 0.154 | 1.72 | 4.93x10−4 | 1.03 | 4.20x10−1 |
Syzygy | 0.247 | 0.162 | 1.69 | 5.93x10−4 | ||||||
vipR | 0.260 | 0.180 | 1.6 | 9.29x10−3 | ||||||
rs11100860 | HHIP | A | G | SNVer | 0.337 | 0.410 | 0.73 | 1.44x10−2 | 0.86 | 3.31x10−9 |
Syzygy | 0.340 | 0.404 | 0.76 | 3.28x10−2 | ||||||
vipR | 0.398 | 0.406 | 0.97 | 8.37x10−1 | ||||||
rs153916 | SPATA9 | C | T | SNVer | 0.600 | 0.530 | 1.33 | 2.03x10−2 | 0.99 | 5.55x10−1 |
Syzygy | 0.605 | 0.536 | 1.33 | 2.35x10−2 | ||||||
vipR | 0.576 | 0.526 | 1.09 | 1.33x10−1 | ||||||
rs1985524 | HTR4 | G | C | SNVer | 0.378 | 0.448 | 0.75 | 2.27x10−2 | 0.88 | 1.08x10−6 |
Syzygy | 0.383 | 0.446 | 0.77 | 3.67x10−2 | ||||||
vipR | 0.428 | 0.446 | 0.93 | 5.89x10−1 |
COPD single variant results for lung function sentinel variants [9] with P < 0.05 when using allele counts for at least two calling algorithms in stage 1 and 2. Full stage 1 results for the 26 lung function loci are presented in S6 Table. OR correspond to the alternative allele.
Abbreviations: Ref = reference, Alt = alternative, freq = frequency, N = number, ac = allele count, OR = odds ratio.