Table 2.
Thirty-five lead exonic SNPs and nearby sentinel GWAS SNPs (within 2 Mb)
| Exon rs No. | Chr | Position (hg19) | Risk Allele | Other Allele | Gene Name | Risk Allele Frequency | OR (95% CI) | P | GWAS rs No. | GWAS Closest Gene | R2 | Source | Trait |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| rs11205303 | 1 | 149906413 | C | T | MTMR11 | 0.4 | 1.06 (1.03–1.08) | 7.41E-08 | rs11205354 | C1orf54 | 0.0055** | Shrine (3) | PEF |
| rs2571445 | 2 | 218683154 | A | G | TNS1 | 0.39 | 1.08 (1.05–1.1) | 4.17E-13 | rs2571445 | TNS1 | 1 | Shrine (3) | FEV1 |
| rs11938093 | 4 | 75675841 | A | T | BTC | 0.74 | 1.07 (1.04–1.09) | 4.44E-09 | rs4585380 | BTC | 1 | Sakornsakolpat (4) | Moderate COPD |
| rs2454206 | 4 | 106196951 | G | A | TET2 | 0.38 | 1.07 (1.05–1.09) | 1.67E-10 | rs10516526 | GSTCD | 0.011** | Wain (6) | FEV1 |
| rs10043775 | 5 | 147805120 | T | C | FBXO38 | 0.73 | 1.09 (1.06–1.11) | 1.86E-13 | rs10037493 | HTR4 | 0.31 | Sakornsakolpat (4) | Moderate COPD |
| rs1800888 | 5 | 148206885 | T | C | ADRB2 | 0.014 | 1.32 (1.22–1.42) | 9.39E-13 | rs1800888 | ADRB2 | 1 | Shrine (3) | FEV1 |
| rs2287749 | 5 | 156918850 | C | T | ADAM19 | 0.87 | 1.09 (1.06–1.12) | 3.61E-09 | rs72811310 | ADAM19 | 0.8 | Sakornsakolpat (4) | Moderate COPD |
| rs1422795 | 5 | 156936364 | C | T | ADAM19 | 0.35 | 1.09 (1.07–1.11) | 1.94E-17 | rs1990950 | ADAM19 | 0.31 | Wain (6) | FEV1/FVC |
| rs11740603 | 5 | 157098756 | T | G | C5orf52 | 0.14 | 1.08 (1.05–1.11) | 1.11E-07 | rs1990950 | ADAM19 | 0.029** | Wain (6) | FEV1/FVC |
| rs1334576 | 6 | 7211818 | A | G | RREB1 | 0.42 | 1.05 (1.03–1.07) | 5.11E-08 | rs1334576 | RREB1 | 1 | Sakornsakolpat (4) | Moderate COPD |
| rs13195509 | 6 | 26463660 | A | G | BTN2A1 | 0.12 | 1.11 (1.08–1.15) | 2.53E-12 | rs2070600 | AGER | 0.0023** | Shrine (3) | FEV1/FVC |
| rs61742093 | 6 | 27879982 | G | A | OR2B2 | 0.11 | 1.11 (1.08–1.14) | 5.98E-11 | rs2070600 | AGER | 0.0026** | Shrine (3) | FEV1/FVC |
| rs2232423 | 6 | 28366151 | G | A | ZSCAN12 | 0.11 | 1.11 (1.08–1.15) | 1.96E-11 | rs2070600 | AGER | 0.0023** | Shrine (3) | FEV1/FVC |
| rs3749971* | 6 | 29342775 | A | G | OR12D3 | 0.12 | 1.11 (1.08–1.14) | 2.60E-11 | rs2070600 | AGER | 0.003** | Shrine (3) | FEV1/FVC |
| rs2523989* | 6 | 30078275 | T | C | TRIM31 | 0.17 | 1.09 (1.06–1.12) | 1.40E-10 | rs2070600 | AGER | 0.0012** | Shrine (3) | FEV1/FVC |
| rs929156* | 6 | 30139699 | G | A | TRIM15 | 0.76 | 1.06 (1.04–1.09) | 8.17E-08 | rs2070600 | AGER | 0.044** | Shrine (3) | FEV1/FVC |
| rs9262143* | 6 | 30652781 | T | C | PPP1R18 | 0.14 | 1.11 (1.08–1.15) | 9.98E-14 | rs2070600 | AGER | 0.0044** | Shrine (3) | FEV1/FVC |
| rs2074506* | 6 | 30890483 | G | T | VARS2 | 0.65 | 1.06 (1.03–1.08) | 2.79E-07 | rs2070600 | AGER | 0.041** | Shrine (3) | FEV1/FVC |
| rs7750641* | 6 | 31129310 | T | C | TCF19 | 0.15 | 1.11 (1.08–1.14) | 1.11E-12 | rs2070600 | AGER | 0.0078** | Shrine (3) | FEV1/FVC |
| rs3101017* | 6 | 31733466 | C | T | VWA7 | 0.13 | 1.12 (1.09–1.15) | 1.92E-14 | rs2070600 | AGER | 0.0092** | Shrine (3) | FEV1/FVC |
| rs2070600* | 6 | 32151443 | C | T | AGER | 0.94 | 1.19 (1.15–1.25) | 1.31E-16 | rs2070600 | AGER | 1 | Shrine (3) | FEV1/FVC |
| rs7775397* | 6 | 32261252 | G | T | C6orf10 | 0.13 | 1.12 (1.08–1.15) | 3.27E-13 | rs2070600 | AGER | 0.011** | Shrine (3) | FEV1/FVC |
| rs1129740* | 6 | 32609105 | A | G | HLA-DQA1 | 0.59 | 1.07 (1.04–1.09) | 9.84E-10 | rs2070600 | AGER | 0.033** | Shrine (3) | FEV1/FVC |
| rs17280293 | 6 | 142688969 | A | G | ADGRG6 | 0.97 | 1.32 (1.24–1.41) | 8.13E-18 | rs17280293 | ADGRG6 | 1 | Shrine (3) | FEV1/FVC |
| rs11155242 | 6 | 142691549 | A | C | ADGRG6 | 0.81 | 1.14 (1.11–1.17) | 5.98E-26 | rs9399401 | ADGRG6 | 0.62 | Sakornsakolpat (4) | Moderate COPD |
| rs721917 | 10 | 81706324 | G | A | SFTPD | 0.42 | 1.05 (1.03–1.07) | 8.91E-08 | rs721917 | SFTPD | 1 | Shrine (3) | FEV1/FVC |
| rs11049488 | 12 | 28412372 | G | A | CCDC91 | 0.7 | 1.06 (1.04–1.08) | 4.67E-08 | rs11049386 | PTHLH; CCDC91 | 0.83 | Sakornsakolpat (4) | Moderate COPD |
| rs3829947 | 14 | 93118038 | A | G | RIN3 | 0.45 | 1.05 (1.03–1.07) | 5.35E-07 | rs117068593 | RIN3 | 0.18** | Wain (6) | FEV1 |
| rs3885951 | 15 | 78825917 | G | A | HYKK | 0.096 | 1.09 (1.06–1.13) | 4.71E-08 | rs28534575 | CHRNB4 | 0.026** | Sakornsakolpat (4) | Moderate COPD |
| rs16969968 | 15 | 78882925 | A | G | CHRNA5 | 0.33 | 1.11 (1.09–1.14) | 5.03E-25 | rs28534575 | CHRNB4 | 0.14** | Sakornsakolpat (4) | Moderate COPD |
| rs4842860 | 15 | 83680287 | A | G | C15orf40 | 0.38 | 1.05 (1.03–1.07) | 3.54E-07 | rs7181169 | BTBD1 | 0.44 | Sakornsakolpat (4) | Moderate COPD |
| rs17361375 | 15 | 83680329 | G | A | C15orf40 | 0.79 | 1.06 (1.04–1.09) | 3.72E-07 | rs7181169 | BTBD1 | 0.33 | Sakornsakolpat (4) | Moderate COPD |
| rs4842838 | 15 | 84582124 | G | T | ADAMTSL3 | 0.47 | 1.07 (1.05–1.09) | 2.92E-12 | rs1896797 | SH3GL3 | 0.28 | Shrine (3) | FEV1/FVC |
| rs9897794 | 17 | 28296327 | G | T | EFCAB5 | 0.48 | 1.05 (1.03–1.07) | 1.51E-07 | rs2244592 | SSH2 | 0.71 | Shrine (3) | FEV1/FVC |
| rs12373142 | 17 | 43924200 | G | C | SPPL2C | 0.22 | 1.08 (1.05–1.1) | 1.80E-10 | rs12373142 | SPPL2C | 1 | Sakornsakolpat (4) | Moderate COPD |
*Variant location within HLA region (hg19; chromosome 6: 28477797-33448354). **R2 < 0.2. Exonic variants were clumped prior to comparing with GWAS SNPs based on an R2 > 0.2. References to GWAS variants are for the most recent publication. COPD, chronic obstructive pulmonary disease; GWAS, genome-wide association study; HLA, human leukocyte antigen; PEF, peak expiratory flow; SNPs, single-nucleotide polymorphisms.