Table 2.
Genetic studies investigating the association between several SNPs and both lupus nephritis and specific auto-antibodies in different ethnic populations.
Author | No. of SLE patients | No. of healthy controls | Ethnic origin | Gene/SNP studied | Associations | |
---|---|---|---|---|---|---|
Nephritis | Autoantibodies | |||||
Taylor et al. [38] | 1396 | 2560 | North Americans (European descent) |
STAT4/ rs7574865 |
P < 10−11* | Anti-dsDNA/ P < 10−19 |
Kawasaki et al. [39] | 308 | 306 | Japanese |
STAT4/ rs7574865 |
P = 1.0 × 10−5** | Anti-dsDNA/ P = 4.9 × 10−5** |
Qin et al. [40] | 190 | 182 | Chinese |
IRF5/ rs2004640T |
P = 0.002*** | NS |
Vuong et al. [41] | 272 | 307 | Swedish |
-STAT4/ rs10181656 |
−NS | −NM |
-IRF5/ rs729302 rs4728142 rs2004640 rs3807306 rs10954213 rs11770589 rs2280714 |
−NS | −NM | ||||
- TRAF1-C5/ rs3761847 |
−NS | −NM | ||||
-TGFB1 / rs6957 rs2241715 rs1982073 rs1800469 |
−NS | −NM | ||||
Li et al. [32] | 748 | 750 | Chinese (Northern Han) |
-STAT4 / rs7574865 |
−NS | −NS |
- IRF7/ KIAA1542 |
−P = 3.78 × 10−8 | -Anti-SSB/ P = 9.63x10 − 6 |
||||
rs2246614† | −NS | −NS | ||||
Luan et al. [42] | 675 | 678 | Chinese |
STAT4/ rs7582694 |
−NS | −NS |
Sigurdsson et al. [24] | 695 | — | Swedish |
STAT4/ rs7582694 |
0.04 | Anti-dsDNA/ P = 5.3 × 10−7 |
*Severe nephritis (ESRD or severe progressing renal disease in renal biopsy), P < 10−4.**Statistical significance found only in the case-control arm of the study, whereas, in the case-only arm of the study, results both for nephritis and anti-dsDNA reached no statistical significance.
***While a statistically significant association with lupus nephritis was detected, no association was found with any specific clinical finding or histological type of nephritis.
†These 2 SNPs of the IRF7/KIAA1542 gene were not associated with SLE but only with specific SLE subphenotypes such as nephritis and anti-SSB.
NS: not statistically significant association. NM: not measured.
The rest of the abbreviations used are explained in the text.