Table 4 Enrichment analysis of rare pLOF/bLOF variants in genes involved in type I IFN immunity
Gene set | Cohort | Model | No. carriers | Joint analysis | Trans-pipeline meta-analysis | Trans-ethnic meta-analysis | ||
|---|---|---|---|---|---|---|---|---|
Cases | Controls | P value | OR[95%CI] | P value | P value | |||
13 genesa | Samples independent of [15]b | Co-dominant | 25 | 5 | 5.97 × 10−3 | 3.21 [1.3–8.2] | 9.15 × 10−3 | 0.01 |
13 genes | Fullc | Co-dominant | 34 | 6 | 2.13 × 10−4 | 3.70 [1.7–9.5] | 7.45 × 10−4 | 6.52 × 10−4 |
13 genes | Full | Heterozygous onlyd | 31 | 6 | 5.21 × 10−3 | 3.11 [1.3–8.6] | 7.88 × 10−3 | 5.98 × 10−3 |
13 genes | Full | Recessive | 3 | 0 | 0.02 | 15.79 [1.4–2170.4] | 0.05 | 0.03 |
13 genes + TYK2 | Full | Co-dominant | 37 | 7 | 1.40 × 10−4 | 3.30 [1.6–7.8] | 5.77 × 10−4 | 5.64 × 10−4 |
13 genes + TYK2 | Full | Heterozygous only | 32 | 7 | 0.02 | 2.53 [1.1–6.6] | 0.03 | 0.02 |
13 genes + TYK2 | Full | Recessive | 5 | 0 | 3.36 × 10−3 | 19.65 [2.1–2635.4] | 9.84 × 10−3 | 0.03 |
13 genes + TYK2 + bLOF TLR7 | Full | Co-dominant | 57 | 9 | 1.27 × 10−7 | 3.82 [2.0–7.2] | 1.99 × 10−7 | 2.20 × 10−6 |
13genes + TYK2 + bLOF TLR7 | Full | Heterozygous only | 32 | 9 | 0.04 | 2.27 [1.0–5.2] | 0.04 | 0.02 |
13genes + TYK2 + bLOF TLR7 | Full | Recessive | 25 | 0 | 4.69 × 10−7 | 39.19 [5.2–5037.01] | 2.39 × 10−6 | 6.66 × 10−5 |
13genes + TYK2 + bLOF TLR7 + BP variants | Full | Co-dominant | 67 | 9 | 7.7 × 10−8 | 4.40 [2.3–8.4] | 3.5 × 10−8 | 6.5 × 10−7 |