Association Study Of Single Nucleotide Polymorphisms,mRNA Expression Of STAT4 With Systemic Lupus Erythematosus

Part ? Association study of STAT4 polymorphism with clinical features of systemic lupus erythematosusObjective To investigate the associations of the SNP(rs7574865)in STAT4 gene with susceptibility to SLE in a Chinese population.Morever,we also investigated whether this SNP was associated with the laboratory and clinical characteristics in SLE.Methods We conducted a case-control study and 1387 SLE patients were collected from two hospitals in Anhui Province(the First Affiliated Hospital and Anhui Provincial Hospital of Anhui Medical University).2259 controls was selected from healthy volunteers in the the First Affiliated Hospital of Anhui Medical University.The demographic data and clinical and laboratory characteristics were collected from the case and control by unified questionnaire.The Sequenom Mass ARRAY ? SNP detection technology were used to analyze the loci of STAT4 gene.All the data were analyzed by the SPSS 16.0 software.Results Genotypic frequencies for GG?GT and TT in SLE group were 35.11%?49.17% and 15.72%,respectively.The control group was 44.58%?44.35% and 11.07%,respectively.Significant differences were discovered both in the dominant model and recessive model(TT+GT vs GG :OR=1.487,95% CI: 1.295-1.709);TT vs GG+GT :OR=1.510,95% CI: 1.240-1.839).The allele frequencies of rs7574865 was statistically significant different between cases and controls(P<0.001).Clinical characteristics analysis showed a significant difference under a dominant model between patients with discoid rash and patients without this characteristics(OR=1.460,95% CI:1.063-2.004).We failed to find association of other clinical and laboratory features with rs7574865 in SLE patient(all P>0.05).Conclusion STAT4 gene polymorphism rs7574865 is associated with SLE susceptibility.The rs7574865 SNP was associated discoid rash.We failed to find any association of other clinical and laboratory features with rs7574865 in SLE patient.Part ? Association study of STAT4 m RNA expression and IL17 m RNA?IL23m RNA in PBMC from patients with SLEObjective We detected the levels of STAT4,IL17 and IL23 m RNA of SLE patients and healthy controls,then explored the correlation between STAT4 gene and SLE at the level of gene expression.In addition,we analyzed the correlation between STAT4 m RNA and IL17 m RNA,IL23 m RNA expression,respectively.Methods We extracted the m RNA in PBMCs from 42 patients and 33 controls and detected STAT4 gene expression and IL17 and IL23 gene expression in patient.We used the Mann-Whitney U test to compare the STAT4 median m RNA between different groups.We used Spearman ' s rank correlation to analyze the correlations between STAT4 m RNAand IL23 m RNA,IL17 m RNA.The software we used was SPSS 16.0.The probability level as <0.05 in two-tailed test was considered statistically significant.Results The STAT4 m RNA in PBMCs showed no significant difference between the 42 patients and 33 controls(Z=-1.516,P=0.130).We did not find significant difference between the 17 LN patients and 25 non-LN patients(Z=-0.243,P=0.808).No significant difference was found between the active patients and inactive patients(Z=-0.947,P=0.344).The STAT4 gene expression was significantly different between SLE patients with rash and vasculitis and patients without this characteristics(all P<0.05).Besides,there was a significant positive correlation between STAT4 gene expression and IL17,IL23 gene expression(IL23:rs=0.741,P<0.001;IL17: rs=0.486,P<0.001).Conclusion The STAT4 gene expression was not significantly different between the SLE group and the control group,the active group and the inactive group,the lupus nephritis group and the non-lupus nephritis group.The STAT4 gene expression was significantly different between SLE patients with vasculitis and rash.The STAT4 gene expression were positive correlated with IL17,IL23 gene expression.