Table 1. SLE candidate genes identified or confirmed in recent studies.
| Gene(s) | Odds Ratio | Study Designa | Commentsb | Ref. |
|---|---|---|---|---|
| TREX1d | 25 | Candidate | Rare: found in 12/417 cases and 2/1712 controls | 23 |
| C1q | ∼10 | Candidate | Rare; >90% -/- affected | 39 |
| C4A & C4B | 6.5 & 2.02 | Candidate | Rare; >70% -/- affected; associated with a CNV | 40,41 |
| C2 | ∼5 | Candidate | 42 | |
| TNFAIP3c | 2.3 | GWAS | 17,24 | |
| HLA-DR2 and 3c,d | 2 | Candidate, confirmed in GWAS | Region of high linkage disequilibrium | 14,15,37 |
| IRF5c,d | 1.8 | Candidate, confirmed in GWAS | Three identified causal variants | 14,15,25-27 |
| ITGAMc,d | 1.6 | Simultaneous GWAS and Candidate | H77R causal variant | 14,15,18 |
| FcGR3Af | 1.6 | Linkage Candidate | F176V causal variant | 9 |
| STAT4/STAT1c,d | 1.5 | Candidate, confirmed in GWAS | 14,15,43 | |
| BLK/C8orf13/XKR6c | 1.5 | GWAS | Included in a polymorphic inversion on Chr. 8 | 14,15,17 |
| BANK1c | 1.38 | GWAS | 16 | |
| FcGR2Ac,e | 1.35 | Linkage Candidate, confirmed in GWAS | H131R causal variant | 8,9,14 |
| PTPN22c,d | 1.3 | Candidate, confirmed in GWAS | N. European; familial lupus; RA susceptibility | 14,44 |
| CRPf | 1.3 | Candidate | 45 | |
| OX40/TNFSF4d | 1.3 | Candidate | 46 | |
| KIAA1542c | 1.28 | GWAS | Near IRF7 | 14 |
| PXKc | 1.25 | GWAS | 14 | |
| MECP2/IRAK1d | 1.2 | Candidate | Located on X chromosome | 28,47 |
| PDCD1e | 1.2 | Linkage Candidate | 10 |
a
Candidate: candidate gene association study
b
-/-: homozygous for the null allele
c
GWAS p<5×10-8 and confirmed
d
Candidate gene p<1×10-5 and confirmed
e
LOD>3.2 and confirmed
f
gene may have not yet reached stringent thresholds of c-e, but observed in multiple independent studies and sufficient biological evidence to conclude is real.