Table 2.
Candidate causal variants and putative mechanisms.
| Gene | Variant | Putative Mechanism | Reference |
|---|---|---|---|
| IL7R | rs6897932 (exon 6) | Low level skipping of exon 6, changes in the soluble/membrane bound ratio with higher sIL7R | [50] |
| IL2RA | rs2104286 (intronic) | Changes in the soluble/membrane bound ratio with higher sIL2RA | [96] |
| TNFRSF1A | rs1800693 (intronic) | Skipping of exon 6, changes in the soluble/membrane bound ratio with higher sTNFR1 | [51] |
| CD58 | rs2300747 (intronic) | Higher membrane expression of CD58 and correction of CD4+ regulatory cell function | [97] |
| IRF8 | 17445836 (intronic) | Widespread effect on the type I interferon transcriptional responses | [88] |
| TYK2 | rs34536443 (exon 21) | Decrease TYK2 kinase activity and cytokine shifting towards Th2 | [52] |
| CD6 | rs1782933 (intronic) | Decreased expression of full length CD6 in CD4+ cells leading to altered proliferation | [98] |
| EVI5 | rs11810217 (intronic) | Regulation of adjacent gene GFl1 | [99] |
| CYP27B1 | rs12368653 (intergenic) | Under-expression in tolerogenic dendritic cells (DC2) | [100] |
| PRKCA | GGTG ins/del (intergenic) | Inclusion/exclusion of exon 3. Risk associated with lower PRKCA expression | [101] |
| CBLB | rs12487066 (intergenic) | Diminished CBL-B expression and altered Type I IFN function in CD4+ cells | [53] |