TABLE 4

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

SNVChr.Position (hg19)GeneEffect/
noneffect allele
MAFDiscoveryReplicationMeta-analysis
OR (95% CI)p-valueOR (95% CI)p-valueOR (95% CI)p-value
rs34474233111 219 152MUC5ACA/G0.0444.08 (2.56–6.49)2.99×10−93.15 (2.37–4.20)4.10×10−143.39 (2.65–4.32)2.27×10−22
rs34815853111 219 153MUC5ACA/C0.0444.01 (2.53–6.37)4.15×10−93.16 (2.37–4.20)4.13×10−143.37 (2.64–4.30)3.02×10−22
rs12802931111 236 164MUC5BG/A0.1833.76 (2.73–5.16)3.72×10−162.42 (2.02–2.90)6.07×10−222.96 (1.93–4.53)4.60×10−35
rs35705950111 241 221MUC5BT/G0.1086.18 (4.28–8.94)2.69×10−224.11 (3.31–5.11)1.86×10−374.90 (3.30–7.28)9.27×10−57
rs4963072111 362 953CTD-2245O6.1G/C0.3003.34 (2.18–5.11)2.63×10−81.29 (1.08–1.54)5.30×10−31.59 (0.38–6.65)4.91×10−8
rs563837631743 682 323CTC-501O10.1C/T0.2420.07 (0.03–0.16)1.75×10−90.82 (0.68–0.97)2.42×10−20.24 (0.02–2.82)2.13×10−8
rs3734171743 691 173CRHR1T/C0.2390.10 (0.05–0.20)1.24×10−100.82 (0.69–0.98)2.72×10−20.29 (0.04–2.36)1.59×10−9
rs3719965251744 183 317KANSL1A/C0.2440.04 (0.02–0.11)2.17×10−100.80 (0.67–0.95)1.26×10−20.19 (0.01–3.44)1.98×10−9
rs1429202721744 301 840KANSL1C/T0.2480.10 (0.05–0.20)7.45×10−110.83 (0.69–0.98)3.07×10−20.29 (0.04–2.35)1.11×10−9
rs26966181744 325 635KANSL1/LRRC37AC/G0.2496.74 (4.02–11.31)5.09×10−131.25 (1.05–1.49)1.05×10−22.28 (0.28–18.51)4.40×10−12

SNV: single nucleotide variant; Chr.: chromosome; MAF: minor allele frequency.