TABLE VI.
Genetic association and eQTL results of 6 SNPs in IRF binding site of GSDMB in SARP.
| SNP | Position (hg38) | SNP Type | IRF Binding Sites | Allele* (MAF) | Asthma Severity† | Number of Exacerbations in 3 years‡ | eQTL in BEC (n=114) Longitudinal Cohort** | eQTL GTEx database Lung Tissue (n=383)†† | ||
|---|---|---|---|---|---|---|---|---|---|---|
| OR (P) | β (P) | PGAP3 β (P) | GSDMB β (P) | GSDMA β (P) | ||||||
| rs1031458 | 39915920 | intronic | IRF4 | G/T (0.45) | 0.76 (0.0053) | −0.77 (0.028) | −0.36 (5.1E-3) | −0.47 (2.4E-4) | 0.31 (0.018) | GSDMB↓
(1E-20) ORMDL3↓ (3E-19) GSDMA↑ (1E-14) PGAP3↓ (1E-7) |
| rs3902920 | 39918763 | 5′UTR | IRF1/2 | T/C (0.46) | 0.75 (0.0027) | −0.88 (0.012) | −0.29 (0.036) | −0.45 (0.0011) | 0.27 (0.047) | NA |
| rs77929191 | 39915767 | intronic | IRF4 | A/G (0.0021) | 0.37 (0.40) | −2.9 (0.47) | −0.44 (0.54) | −1.26 (0.078) | −0.045 (0.95) | NS |
| rs536439445 | 39918670 | 5′UTR | IRF1/2 | A/G (0.0052) | 0.57 (0.41) | −1.8 (0.53) | 0.77 (0.45) | −1.40 (0.17) | 0.011 (0.99) | NS |
| rs549170154 | 39918764 | 5′UTR | IRF1/2 | C/T (0.0021) | 0.68 (0.74) | 5.1 (0.21) | 0.20 (0.78) | −0.18 (0.80) | −0.012 (0.99) | NA |
| rs540139228 | 39918797 | 5′UTR | IRF1/2 | G/A (0.0010) | 1.3 (0.86) | −2.6 (0.52) | NA | NA | NA | NA |
Minor allele (effect allele)/major allele (minor allele frequency).
OR and P were odds ratio and p-value for genetic association analysis of asthma severity (426 severe vs. 531 non-severe asthma) in non-Hispanic White in SARP.
β and P were correlation coefficient and p-value for genetic association analysis of the number of longitudinal exacerbations due to asthma in 3 years in the longitudinal cohort in 273 asthmatics with longitudinal asthma exacerbations in non-Hispanic White in SARP.
β and P were correlation coefficient and p-value for eQTL analysis in 114 subjects with RNAseq of bronchial epithelial cells in SARP longitudinal cohort.
eQTL of GTEx database: eQTL SNPs identified in the lung tissue (n=383) from Genotype-Tissue Expression (GTEx) database.26 ↑indicated up-regulation of gene expression and ↓indicated down-regulation of gene expression. NA: non-avaliable and NS: non-significant.