Table 3.
Presumably damaging variants identified in the UK jSLE cohort [5]
| Gene variants | Predicted effect (snpEFF, ClinVar, snpNexus and PubMed) | Zygosity | Predicted impact | Reported inheritance patterns | Reference (first reported) |
|---|---|---|---|---|---|
| C1S (rs117907409) | Deleterious | Heterozygous | Disease-causing | AD | [76] |
| SAMHD1 (c.811C>A) | Impacts catalytic activity | Heterozygous | Disease-causing or -modifier | AD/AR | [77] |
| C3 (rs117793540) | Gain-of-function | Heterozygous | Disease-causing | AD/AR | [78, 79] |
| TREX1 (rs1331920811) | Loss-of-function | Heterozygous | Disease-causing or -modifier | AD/AR | [80] |
| SAMHD1 (c.811C>A) | Impacts catalytic activity | Heterozygous | Disease-causing or -modifier | AD | [77] |
| IRF7 (c.-283-1G>T) | Loss-of-function | Heterozygous | Disease-modifier | AR | — |
| C3 (c.4341C>A) | Loss-of-function | Heterozygous | Disease-causing or -modifier | AD/AR | — |
| RNASEH2B (c.184G>T) | Deleterious | Heterozygous | Disease-modifier | AR | — |
| BANK1 (rs928173624) | Loss-of-function | Heterozygous | Disease-causing or -modifier | N/A | [81, 82] |
| PTPN22 (c.369+1G>T) | In silico predicted ‘high impact’ | Heterozygous | Disease-causing | AD | — |
| TNFAIP3 (rs776714084) | Loss-of-function | Heterozygous | Disease-causing | AD | — |
| RNASEH2A (rs549586181) | Loss-of-function | Heterozygous | Disease-modifier | AR | [80] |
| C3 (c.1303G>T) | Loss-of-function | Heterozygous | Disease-modifier | AD/AR | — |
| TNFSF4 (c.368_369delAG) | Loss-of-function | Heterozygous | Disease-modifier | N/A | — |
| RNASEH2C (rs759118175) | Loss-of-function | Heterozygous | Disease-modifier | AR | — |
| TREX1 (rs749323787) | Impacts catalytic activity | Heterozygous | Disease-causing | AD/AR | [82] |
| SAMHD1 (rs1400380009) | Loss-of-function | Heterozygous | Disease-causing | AD/AR | — |
| PEPD (rs529315200) | Loss-of-function | Heterozygous | Disease-modifier | AR | [83] |
| DNASE1 (rs201571412) | Loss-of-function | Heterozygous | Disease causing | AD | [84] |
AD autosomal dominant, AR autosomal recessive, BANK1 B cell scaffold protein with ankyrin repeats 1, C1S complement component C1S, C3 complement C3, DNASE1 deoxyribonuclease 1, IRF7 interferon regulatory factor 7, N/A not available, PEPD peptidase D, PTPN22 protein tyrosine phosphatase non-receptor type 22, RNASEH2A ribonuclease H2 subunit A, RNASEH2B ribonuclease H2 subunit B, RNASEH2C ribonuclease H2 subunit C, SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1, TNFAIP3 TNF-α-induced protein 3, TNFSF4 TNF superfamily member 4, TREX1 three prime repair exonuclease 1