Table 3. Genome-wide significant loci in OSA traits colocalizing with eQTL.
| SNP | Coordinate | OSA trait | OSA assoc p-value |
Gene | Tissue / cell type |
eQTL p-value |
JLIM p-value |
JLIM FDR |
|---|---|---|---|---|---|---|---|---|
| rs12150370 | 17:4,777,634 | Min O2 Saturation | 9.0E-06 |
CHRNE (cholinergic receptor nicotinic epsilon subunit) |
Muscle | 9.3E-20 | 2.0E-05 | 0.0006 |
| Neutrophil | 2.5E-20 | 2.0E-05 | 0.0006 | |||||
| Spleen | 3.4E-13 | 8.0E-05 | 0.001 | |||||
| Monocyte | 8.8E-14 | 9.0E-05 | 0.001 | |||||
|
C17orf107 (chromosome 17 open reading frame 107) |
Spleen | 1.4E-08 | 5.0E-05 | 0.001 |
Three loci with known genome-wide significant association to OSA traits were tested for the shared effect with gene expression levels in seven tissue/cell types. The FDR cutoff of 0.05 was applied. The eQTL p-value refers to the association p-value of the SNP to the gene expression trait of the gene indicated, measured in the tissue/cell type indicated. The JLIM p-value refers to a pleiotropy test between the OSA and gene expression traits. See S7 Table for the full list of comparisons tested.