Table 2.
Top Results of the Genome-Wide Association Study for Subjects with Chronic Obstructive Pulmonary Disease with a Pulmonary Artery:Ascending Aorta Ratio Greater Than 1 versus Those with a Pulmonary Artery:Ascending Aorta Ratio of 1 or Less in the Cohorts of COPDGene Non-Hispanic Whites, COPDGene African Americans, and ECLIPSE Studies*
| Locus | Nearest Gene | SNP | Risk Allele | FRQ |
COPDGene NHW |
COPDGene AA |
ECLIPSE |
Overall |
|||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EUR† | AA | OR (95% CI) | P Value | OR (95% CI) | P Value | OR (95% CI) | P Value | OR (95% CI) | P Value | I2 | Q | ||||
| 15q25.1 | IREB2 | rs7181486 | C | 0.39 | 0.24 | 1.22‡ (1.06–1.40) | 5.62 × 10−3 | 1.58‡ (1.23–2.04) | 3.53 × 10−4 | 1.36‡ (1.16–1.60) | 1.40 × 10−4 | 1.32 (1.20–1.45) | 2.10 × 10−8 | 43.6 | 0.17 |
| 15q25.1 | IREB2 | rs56219465 | G | 0.39 | 0.24 | 1.22‡ (1.06–1.40) | 5.64 × 10−3 | 1.59‡ (1.23–2.04) | 3.55 × 10−4 | 1.36‡ (1.16–1.60) | 1.40 × 10−4 | 1.32 (1.20–1.45) | 2.12 × 10−8 | 43.6 | 0.17 |
| 15q25.1 | IREB2 | rs17483929 | A | 0.38 | 0.23 | 1.21 (1.06–1.39) | 5.85 × 10−3 | 1.59 (1.23–2.04) | 3.51 × 10−4 | 1.36‡ (1.16–1.60) | 1.40 × 10−4 | 1.32 (1.20–1.45) | 2.24 × 10−8 | 44.2 | 0.17 |
| 15q25.1 | IREB2 | rs2009746 | G | 0.39 | 0.22 | 1.21‡ (1.06–1.39) | 6.15 × 10−3 | 1.62‡ (1.25–2.10) | 2.58 × 10−4 | 1.36‡ (1.16–1.60) | 1.49 × 10−4 | 1.32 (1.20–1.45) | 2.25 × 10−8 | 49.9 | 0.14 |
| 15q25.1 | IREB2 | rs72738718 | C | 0.39 | 0.24 | 1.22‡ (1.06–1.40) | 5.90 × 10−3 | 1.57‡ (1.22–2.02) | 4.37 × 10−4 | 1.37‡ (1.16–1.60) | 1.33 × 10−4 | 1.32 (1.20–1.45) | 2.37 × 10−8 | 41.1 | 0.18 |
| 15q25.1 | IREB2 | rs72736802 | T | 0.39 | 0.48 | 1.25‡ (1.08–1.45) | 3.52 × 10−3 | 1.38‡ (1.10–1.72) | 5.67 × 10−3 | 1.44‡ (1.20–1.71) | 5.77 × 10−5 | 1.34 (1.21–1.48) | 2.72 × 10−8 | 0 | 0.48 |
| 14q31.3 | GALC | rs7140285 | T | 0.08 | 0.12 | 1.51‡ (1.20–1.89) | 4.20 × 10−4 | 1.68‡ (1.19–2.37) | 3.12 × 10−3 | 1.53‡ (1.17–2.01) | 2.21 × 10−3 | 1.55 (1.33–1.81) | 3.75 × 10−8 | 0 | 0.87 |
| 15q25.1 | AGPHD1 | rs8034191 | C | 0.39 | 0.17 | 1.23 (1.08–1.41) | 2.70 × 10−3 | 1.66 (1.25–2.20) | 4.60 × 10−4 | 1.33 (1.13–1.56) | 4.49 × 10−4 | 1.31 (1.19–1.45) | 4.06 × 10−8 | 42.2 | 0.18 |
| 15q25.1 | IREB2 | rs55983731 | T | 0.39 | 0.24 | 1.21‡ (1.06–1.39) | 6.47 × 10−3 | 1.54‡ (1.19–1.98) | 9.01 × 10−4 | 1.36‡ (1.16–1.60) | 1.38 × 10−4 | 1.31 (1.19–1.44) | 4.39 × 10−8 | 33.1 | 0.22 |
| 15q25.1 | IREB2 | rs17483686 | T | 0.39 | 0.24 | 1.21‡ (1.05–1.39) | 6.72 × 10−3 | 1.53‡ (1.19–1.98) | 9.50 × 10−4 | 1.36‡ (1.16–1.60) | 1.38 × 10−4 | 1.31 (1.19–1.44) | 4.74 × 10−8 | 33.0 | 0.22 |
| 15q25.1 | IREB2 | rs17483721 | C | 0.38 | 0.23 | 1.21 (1.05–1.39) | 6.74 × 10−3 | 1.53 (1.19–1.97) | 9.81 × 10−4 | 1.36‡ (1.16–1.60) | 1.38 × 10−4 | 1.31 (1.19–1.44) | 4.90 × 10−8 | 32.7 | 0.23 |
Definition of abbreviations: AA, African American; CI, confidence interval; COPDGene, Genetic Epidemiology of COPD Study; ECLIPSE, Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints; EUR, European white; FRQ, risk allele frequency; I2, percentage of the variability in effect estimates due to heterogeneity; NHW, non-Hispanic white; OR, odds ratio; Q, P values for Cochran's Q test; SNP, single-nucleotide polymorphism.
Adjusted for age, sex, pack-years of cigarette smoking, and genetic ancestry, as summarized in the principal components.
EUR frequency data are from the meta-analysis of COPDGene NHW and ECLIPSE.
Imputed genotypes.