Association of STAT۴ rs۷۵۸۲۶۹۴ with susceptibility to systemic lupus erythematosus in population of Lorestanprovince, Iran

Background and aims: Systemic lupus erythematosus (SLE) is a polygenic, inflammatory disease with a complex genetic inheritance thataffects almost all the organs and systems of the host body. According to studies, STAT۴ is a susceptible gene that can participate in thedevelopment of SLE in different populations. The aim of this study was to show the association between rs۷۵۸۲۶۹۴ single nucleotidepolymorphism with increased risk of SLE disease and two serological symptoms of the disease (i.e., anti-dsDNA and ANA) in the populationresiding in Lorestan province.Methods: The present study was conducted as a case control research. In this study, the prevalence of STAT۴ gene G/C (rs۷۵۸۲۶۹۴)single nucleotide polymorphism (SNP) in the patients with SLE (n=۱۲۲) and in control group (n=۱۲۷) was investigated among a samplepopulation from Lorestan province. This SNP was genotyped based on using two methods including PCR-RFLP (polymerase chain reactionrestrictionfragment length polymorphism) and tetra-primer ARMS-PCR (amplification-refractory mutation system) methods.Results: According to the obtained results, the frequency of minor allele C from this SNP (related allele with the disease) as compared tothe major allele G (normal allele) was significantly higher in SLE patients than the controls. In addition, it showed a significant association(odds ratio [OR] = ۱.۶۲۳, ۹۵% CI = ۱.۱۱۱-۲.۳۷۰, P = ۰.۰۱۲) with susceptibility to SLE. Moreover, a significant correlation (OR = ۲.۲۴۹,۹۵% CI = ۱.۰۳۱–۴.۹۰۴, P = ۰.۰۴۲) was found between the rs۷۵۸۲۶۹۴ CC genotype and the risk of SLE in the population of Lorestan.Conclusion: Overall, based on the results it can be concluded that there was a relationship between the STAT۴ gene G/C (rs۷۵۸۲۶۹۴) SNPand the increased risk of SLE. However, no association was observed between the above-mentioned gene and anti-dsDNA or ANAthat are some of the symptoms of SLE.

Keywords:

SLE , Polymorphism , STAT۴ , rs۷۵۸۲۶۹۴