Table 1.
Genomic Regions Significantly Associated with Chronic Obstructive Pulmonary Disease Affection Status in Meta-analyses That Have Included COPDGene
| Top SNPs | Odds Ratio (95% CI) or β-Coefficient (SE)* | P Value* | Reference |
|---|---|---|---|
| Chromosome 1q41: TGFB2 | |||
| rs10429950 | 1.11 (1.07–1.14) | 1.66 × 10−10 | 18 |
| Chromosome 2q26: PID1 | |||
| rs16825267 | 1.19 (1.12–1.25) | 1.68 × 10−9 | 18 |
| Chromosome 3p24: RARB | |||
| rs1529672 | 1.11 (1.07–1.15) | 2.47 × 10−8 | 18 |
| Chromosome 3q21: EEFSEC | |||
| rs2955083 | 1.18 (1.13–1.24) | 4.16 × 10−13 | 18 |
| Chromosome 4q22: FAM13A | |||
| rs1903003 | 0.78 (0.64–0.95)† | 7.19 × 10−3† | 4 |
| rs7671167 | 0.77 (0.63–0.93)‡ | 3.39 × 10−3‡ | 4 |
| rs7671167 | 0.73 (0.66–0.81) | 2.22 × 10−9 | 7 |
| rs1964516 | 0.73 (0.66–0.81) | 1.88 × 10−9 | 7 |
| rs4416442 | 1.28 (1.2–1.36) | 1.12 × 10−14 | 13 |
| rs6837671 | 1.12 (1.09–1.15) | 7.48 × 10−15 | 18 |
| Chromosome 4q24: GTSCD | |||
| rs11727735 | 1.26 (1.18–1.33) | 3.84 × 10−14 | 18 |
| Chromosome 4q24: TET2 | |||
| rs2047409 | 1.12 (1.08–1.15) | 2.46 × 10−13 | 18 |
| Chromosome 4q31: HHIP | |||
| rs13118928 | 0.77 (0.70–0.85) | 9.3 × 10−8 | 4 |
| rs13118928 | 0.76 (0.65–0.89) | 5.97 × 10−7 | 7 |
| rs13141641 | 0.76 (0.65–0.88) | 2.56 × 10−7 | 7 |
| rs13141641 | 1.27 (1.19–1.36) | 1.57 × 10−12 | 13 |
| rs145506456 | 1.22 (1.16–1.27) | 9.1 × 10−41 | 18 |
| Chromosome 5q32: HTR4 | |||
| rs7733088 | 1.18 (1.14–1.21) | 5.33 × 10−26 | 18 |
| Chromosome 5q33: ADAM19 | |||
| rs113897301 | 1.16 (1.12–1.21) | 1.58 × 10−13 | 18 |
| Chromosome 6p24: DSP | |||
| rs2076295 | 1.09 (1.06–1.12) | 3.97 × 10−9 | 18 |
| Chromosome 6p21: AGER | |||
| rs2070600 | 1.24 (1.16–1.32) | 5.94 × 10−10 | 18 |
| Chromosome 6q21: ARMC2 | |||
| rs2806356 | 1.12 (1.08–1.16) | 8.34 × 10−10 | 18 |
| Chromosome 6q24: ADGRG6 | |||
| rs9399401 | 1.15 (1.12–1.19) | 1.81 × 10−19 | 18 |
| Chromosome 10q22: SFTPD | |||
| rs721917 | 1.08 (1.05–1.11) | 2.49 × 10−8 | 18 |
| Chromosome 14q32: RIN3 | |||
| rs754388 | 1.28 (1.18–1.39) | 5.25 × 10−9 | 13 |
| rs754388 | 1.15 (1.11–1.20) | 4.96 × 10−14 | 18 |
| Chromosome 15q23: THSD4 | |||
| rs1441358 | 1.13 (1.10–1.16) | 8.22 × 10−16 | 18 |
| Chromosome 15q25: CHRNA3/5 and IREB2 | |||
| rs8034191 | 1.29 (1.16–1.41) | 8.32 × 10−8 | 4 |
| rs13180 | 0.77 (0.70–0.85) | 2.01 × 10−8 | 4 |
| rs12914385 | 1.28 (1.2–1.36) | 6.38 × 10−14 | 13 |
| rs16969968 | 0.27 (0.04) | 1.7 × 10−14 | 14 |
| rs754388 | 1.18 (1.15–1.22) | 1.77 × 10−28 | 18 |
| Chromosome 16p11: IL27, CCDC101 | |||
| rs181206§ | −0.16 (0.04) | 4.7 × 10−6 | 14 |
| rs17707300 | 1.10 (1.06–1.13) | 6.75 × 10−10 | 18 |
| Chromosome 16q23: CFDP1 | |||
| rs7186831 | 1.12 (1.08–1.16) | 1.12 × 10−11 | 18 |
| Chromosome 18p11: MTCL1 | |||
| rs647097 | 1.10 (1.06–1.13) | 6.14 × 10−9 | 18 |
| Chromosome 19q13: RAB4B/EGLN2/CYP2A6 | |||
| rs7937 | 0.73 (0.63–0.83) | 2.88 × 10−9 | 7 |
| rs2604894 | 0.74 (0.65–0.84) | 3.41 × 10−8 | 7 |
| rs12459249 | 1.10 (1.06–1.14) | 3.42 × 10−8 | 18 |
Definition of abbreviations: CI = confidence interval; COPDGene = Genetic Epidemiology of Chronic Obstructive Pulmonary Disease.
Genes located near top SNPs in each region are shown, but they may not be the genes influenced by functional variants in that region; odds ratios and confidence intervals were taken from the cited references.
For meta-analysis.
Odds ratio and confidence interval for COPDGene non-Hispanic whites only; genome-wide meta-analysis P value = 9.47 × 10−11.
Odds ratio and confidence interval for COPDGene non-Hispanic whites only; genome-wide meta-analysis P value = 1.22 × 10−11.
This study was an exome-wide study, so this SNP was considered significant, given this study design.