The STAT4 SNP (rs7574865) and systemic lupus erythematosus

Introduction: Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease affecting several systems and organs in the body. The association of STAT4 transcription factor with SLE risk remains unclear. Objectives: The aim of this study was to investigate the association of STAT4 gene polymorphism (rs7574865) with the incidence of SLE. Patients and Methods: One hundred and sixty participants (80 patients with SLE and 80 healthy individuals) were included in this study. Gene analysis was conducted by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) in peripheral blood samples. Results: Fifty-seven percent (n=45) of patients with SLE had SLE disease activity index (SLEDAI) above six and had active disease. In the SLE group, the frequency of G and T alleles were 81% and 19%, respectively. Moreover, 72.50% (n=58) of patients carried the GG genotype, 17.5% (n=14) had the GT genotype and 10.1% (n=8) carried the TT genotype. There was no significant difference between allele frequency and genotypic distribution for rs7574865 polymorphism (P>0.05) between SLE and control groups. Significant differences were observed between the distribution of genotypes and clinical manifestations including leukopenia (P=0.04), pulmonary (P=0.01) and ophthalmic (P=0.049) problems. The T allele with an odd ratio of 1.47 and confidence interval of 0.80 to 2.6 could increase the risk of SLE; however, it was not statistically significant (P=0.20). Conclusion: The T allele and TT genotype of the STAT4 rs7574865 polymorphism could increase the risk of lupus; however, these observations were not statistically significant.