JAK2 And PTPRC Expression In Peripheral Blood Mononuclear Cells From Patients With Systemic Lupus Erythematosus

Background Systemic lupus erythematosus(SLE)is a representative autoimmune disease characterized by activation of T cells and B cells,production of autoantibodies and immune-mediated multisystem damage.In clinical,SLE generally affects women in childbearing years.It is reported that the prevalence ratio of men to women is 1:9.SLE is a kind of disease which has obvious hereditary trend.However,the pathogenesis of SLE is not explicit.During the past decade,a large number of susceptibility single-nucleotide polymorphisms(SNPs)associated with SLE have been revealed through genome-wide association studies(GWASs)in multiple ethnic populations.To reveal additional genetic risk factors,we performed a large-scale cross-racial study based on the genome-wide association study Meta-analysis data and identified that two noncoding variants in the JAK2 and PTPRC genes(rs1887428 and rs34889541,respectively)are both significantly associated with SLE.Objective In this study,we aimed to examine the mRNA expression levels of JAK2 and PTPRC in peripheral blood mononuclear cells(PBMCs)from patients with SLE and controls and explored the relationship between the laboratory test parameters and clinical phenotypes of SLE.Methods We performed quantitative real-time PCR(qRT-PCR)to test differences in the expression levels of JAK2 and PTPRC in peripheral blood mononuclear cells(PBMCs)extracted from 135 patients with SLE and 130 healthy controls.Furthermore,we detected the regulatory effect of SNPs on gene expression by expression quantitative trait loci(eQTL)study and analyzed the relationship between laboratory indicators and clinical parameters by the Chi-square test.Results The mRNA expression levels of JAK2 in SLE patients were significantly higher than those in healthy controls(P = 0.005).However,there was no significant association between the SNP variant rs1887428 and JAK2 mRNA expression.However,in SLE cases,the PTPRC mRNA expression levels were decreased(P < 0.001).In addition,our clinical data results of SLE patients showed that kidney and joint damage were associated with the presence of anti-dsDNA antibodies based on a case-only analysis(P=0.015 and P=0.004,respectively).Conclusions We found that the elevated JAK2 mRNA expression and decreased PTPRC mRNA expression might be associated with the pathogenesis of SLE.