Variants showing nominal significance in the replication study, with the same direction of effects as in the discovery study and that met the genome-wide significance level in the meta-analysis
SNV | Chr. | Position (hg19) | Gene | Effect/ noneffect allele | MAF | Discovery | Replication | Meta-analysis | |||
OR (95% CI) | p-value | OR (95% CI) | p-value | OR (95% CI) | p-value | ||||||
rs34474233 | 11 | 1 219 152 | MUC5AC | A/G | 0.044 | 4.08 (2.56–6.49) | 2.99×10−9 | 3.15 (2.37–4.20) | 4.10×10−14 | 3.39 (2.65–4.32) | 2.27×10−22 |
rs34815853 | 11 | 1 219 153 | MUC5AC | A/C | 0.044 | 4.01 (2.53–6.37) | 4.15×10−9 | 3.16 (2.37–4.20) | 4.13×10−14 | 3.37 (2.64–4.30) | 3.02×10−22 |
rs12802931 | 11 | 1 236 164 | MUC5B | G/A | 0.183 | 3.76 (2.73–5.16) | 3.72×10−16 | 2.42 (2.02–2.90) | 6.07×10−22 | 2.96 (1.93–4.53) | 4.60×10−35 |
rs35705950 | 11 | 1 241 221 | MUC5B | T/G | 0.108 | 6.18 (4.28–8.94) | 2.69×10−22 | 4.11 (3.31–5.11) | 1.86×10−37 | 4.90 (3.30–7.28) | 9.27×10−57 |
rs4963072 | 11 | 1 362 953 | CTD-2245O6.1 | G/C | 0.300 | 3.34 (2.18–5.11) | 2.63×10−8 | 1.29 (1.08–1.54) | 5.30×10−3 | 1.59 (0.38–6.65) | 4.91×10−8 |
rs56383763 | 17 | 43 682 323 | CTC-501O10.1 | C/T | 0.242 | 0.07 (0.03–0.16) | 1.75×10−9 | 0.82 (0.68–0.97) | 2.42×10−2 | 0.24 (0.02–2.82) | 2.13×10−8 |
rs373417 | 17 | 43 691 173 | CRHR1 | T/C | 0.239 | 0.10 (0.05–0.20) | 1.24×10−10 | 0.82 (0.69–0.98) | 2.72×10−2 | 0.29 (0.04–2.36) | 1.59×10−9 |
rs371996525 | 17 | 44 183 317 | KANSL1 | A/C | 0.244 | 0.04 (0.02–0.11) | 2.17×10−10 | 0.80 (0.67–0.95) | 1.26×10−2 | 0.19 (0.01–3.44) | 1.98×10−9 |
rs142920272 | 17 | 44 301 840 | KANSL1 | C/T | 0.248 | 0.10 (0.05–0.20) | 7.45×10−11 | 0.83 (0.69–0.98) | 3.07×10−2 | 0.29 (0.04–2.35) | 1.11×10−9 |
rs2696618 | 17 | 44 325 635 | KANSL1/LRRC37A | C/G | 0.249 | 6.74 (4.02–11.31) | 5.09×10−13 | 1.25 (1.05–1.49) | 1.05×10−2 | 2.28 (0.28–18.51) | 4.40×10−12 |
SNV: single nucleotide variant; Chr.: chromosome; MAF: minor allele frequency.