Table 2. Gene-sets with known drug targets enriched with lung function-associated common variation after the application of multiple testing correction (FDR < 0.05).
| Phenotype | Gene-set | Lowest p* | Genic boundaries |
|---|---|---|---|
| FVC | Hedgehog signalling pathway (KEGG) | 6.66 × 10−9 | Liberal |
| BMP receptor signalling | 4.08 × 10−7 | Liberal | |
| FEV1 | Signalling events mediated by the Hedgehog family | 9.30 × 10−7 | Conservative |
| Hedgehog signalling pathway (KEGG) | 3.45 × 10−6 | Liberal | |
| FVC | ALK in cardiac myocytes | 4.57 × 10−6 | Liberal |
| Pathways in cancer | 5.43 × 10−6 | Liberal | |
| FEV1 | Basal cell carcinoma | 8.86 × 10−6 | Liberal |
| FVC | TGF-β signalling pathway | 1.21 × 10−5 | Liberal |
| Circadian clock | 3.00 × 10−5 | Liberal | |
| Class B/2 (secretin family receptors) | 8.08 × 10−5 | Liberal | |
| FEV1 | TGF-β signalling pathway | 8.15 × 10−5 | Liberal |
| Extension of telomeres | 8.59 × 10−5 | Liberal | |
| Pathways in cancer | 8.94 × 10−5 | Liberal | |
| Dilated cardiomyopathy | 9.54 × 10−5 | Liberal | |
| FVC | ECM/ECM-associated proteins | 2.28 × 10−4 | Liberal |
*The lowest p is the most significant gene-set association p-value across all the p-value thresholds (PT) and genic boundary configurations tested.
ECM: extracellular matrix; FVC: forced vital capacity; FEV1: forced expiratory volume in 1 s: TGF-transforming growth factor; ALK: activin receptor-like kinase; BMP: bone morphogenetic protein.