Table 3.
Literature-based eQTLs in LD with sex-specific asthma-associated SNPs
| eQTL | Locus | Sex-specific asthma-associated SNP | LD between associated SNP and eQTL (r2) | Regulated gene | eQTL P-value | Sample description |
|---|---|---|---|---|---|---|
| rs2549009 | 5q31.1 | rs2549003 | 1.0 | IRF1 | 6.24 × 10−10 | LCLs from the 1000 Genomes Project European populations (33) |
| rs2070727 | 5q31.1 | rs2549003 | 1.0 | IRF1 | 7.46 × 10−5 | Sputum from patients with COPD (34) |
| rs2548999a | 5q31.1 | rs2549003 | 1.0 | RAD50 | 3.50 × 10−5 | Lung tissue collected from patients during lung resectional surgery (35) |
| rs9282761a | 5q31.1 | rs2549003 | 1.0 | IRF1 | 7.30 × 10−9 | LCLs from asthmatic children and their siblings (36) |
| rs2548997a | 5q31.1 | rs2549003 | 1.0 | SLC22A5 | 5.15 × 10−8 | LCLs from healthy female twins in the MuTHER resource (37) |
| rs2549003a | 5q31.1 | rs2549003 | NA | RAD50 | 1.3 × 10−5 | LCLs from healthy female twins in the MuTHER resource (37) |
| rs13165038a | 5q31.1 | rs2549003 | 0.97 | SLC22A4 | 1.86 × 10−6 | Monocytes from volunteers (38) |
| rs10035166a | 5q31.1 | rs2549003 | 0.81 | SLC22A5 | 1.37 × 10−17 | Monocytes from subjects in the Gutenberg Heart Study (39) |
| rs4077990 | 17p13.3 | rs9895098 | 1.0 | RAP1GAP2 | 4.99 × 10−10 | Lung tissue collected from patients during lung resectional surgery (35) |
aThere exists an SNP with a smaller eQTL P-value for the same gene: top eQTLs for RAD50 in (a) lung tissue is rs11242103 (r2 = 0.21, P = 2.77 × 10−17) and (b) LCLs from MuTHER resource is rs11950562 (r2 = 0.18, P = 2.11 × 10−23); top eQTL for IRF1 in LCLs from asthmatic children and their siblings is rs2070729 (r2 = 0.74, P = 4.9 × 10−10); top eQTLs for SLC22A5 in (a) LCLs from the MuTHER resource is rs17772583 (r2 = 0.12, P = 1.19 × 10–35) and (b) monocytes from the GHS is rs2631360 (r2 = 0.18, P = 6.6 × 10−85) and the top eQTL for SLC22A4 in monocytes from healthy volunteers is rs274560 (r2 = 0.27 P = 3.19 × 10−13).