Activation of Type I Interferon Pathway in Systemic Lupus Erythematosus: Association with Distinct Clinical Phenotypes

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.