Table 3.
Scoring system for signal to gene analyses.
| Evidence | Weighting |
|---|---|
| GTEX respiratory relevant cell/tissue eQTL (P < 0.05) | 1 |
| GTEX Blood eQTL (P < 0.05) | 1 |
| GTEX respiratory relevant cell/tissue sQTL (P < 0.05) | 1 |
| GTEX blood sQTL (P < 0.05) | 1 |
| OTG eQTL Resp (P < 0.05) | 1 |
| OTG eQTL blood (P < 0.05) | 1 |
| OTG V2G score (presence of) | 1 |
| OTG co-localization study (H4 > 0.8) | 1 |
| HaploReg eQTL (P < 0.05) | 1 |
| Functional variant (presence of in an LD r2 > 0.1) | 1 |
| UBIOPRED brush eQTL (P < 0.05) | 2 |
| UBIOPRED biopsy eQTL (P < 0.05) | 2 |
| UBIOPRED nasal eQTL (P < 0.05) | 2 |
| Literature association (presence of) | 1 |
| Total possible score | 16 |
Each potential candidate causal gene was scored based on supporting evidence. eQTL and sQTL associations were reported on presenting a p-value of <0.05, co-localization studies on presenting an H4 > 0.8 and functional variants if present withing a linkage disequilibrium block with an r2 > 0.1. Double weighting was given to eQTL associations observed in U-BIOPRED, due to the increased relevance of lung tissue and airway epithelial tissues to our study.