Study on associations between type Ⅰ interferon pathway IRF5 gene polymorp-hisms and SLE / 中国免疫学杂志

ABSTRACT

Objective:To investigate the IRF5 rs2004640,rs10954213,rs4728142 loci gene polymorphisms in the progress of Systemic lupus erythematosus(SLE),and explore the influence of the IRF5 gene polymorphisms to the SLE.Methods:218 patients with SLE and 200 health controls were analyzed by using TaqMan-PCR.And all allele frequencies were calculated.The risk factors were compared between cases and controls.At the same time,antinuclear antibodies and double-stranded DNA antibody of 218 SLE cases were analysed with indirect immunefluorescence method,specific autoantibodies in plasma spectrometry were determined using linear immunoassay in plasma.Results:T allele frequency of IRF5 rs2004640 loci in SLE was higher than the controls,allele frequency of the G/T distribution differences in two groups were statistically significant(χ2=6.809,P=0.009).The GG/TT genotype frequencies between the control and the SLE were statistically significant(χ2=5.111,5.035;P=0.024,0.025).Compared control group with SLE group,G allele frequency of IRF5 rs10954213 loci in SLE group was higher than the controls,the difference was statistically significant(χ2=4.332,P=0.037).And GG genotype distribution had significant difference in the two groups(χ2=5.805,P=0.016).SLE group AA/AG/GG genotype distribution of IRF5 rs4728142 loci,compared with control group,there were no statistically difference(χ2=1.273,0.902,1.853;P=0.259,0.342,0.173).And allele frequency A/G also were not statistically differences in two groups(χ2=2.651,P=0.104).The T allele frequency of IRF5 rs2004640 and autoantibodies(anti-Sm,anti-Rib-P)significant associations were found with SLE patient.There were no statistically significant difference between IRF5 rs10954213 with autoantibodies.Compared with SLE remission patients,ANA,ds-DNA increased obviously.Anti-NUC,anti-His,anti-Rib-P were higher,there were statistically significant differences betwen two groups.Conclusion:The GG/GT/TT polymorphism of IRF5 rs2004640,GG/GA/AA polymorphism of rs10954213 were related to SLE.But the GG/GA/AA polymorphism of IRF5 rs4728142 were not significant difference.IRF5 rs2004640 T comtributed to the anti-Sm,anti-Rib-P.In active SLE patients,anti-ds-DNA,anti-NUC,anti-His,anti-Rib-P were higher than the other group.