Abstract
Background and aims: Systemic lupus erythematosus (SLE) is a polygenic, inflammatory disease with a complex genetic inheritance that affects almost all the organs and systems of the host body. According to studies, STAT4 is a susceptible gene that can participate in the development of SLE in different populations. The aim of this study was to show the association between rs7582694 single nucleotide polymorphism with increased risk of SLE disease and two serological symptoms of the disease (i.e., anti-dsDNA and ANA) in the population residing in Lorestan province. Methods: The present study was conducted as a case control research. In this study, the prevalence of STAT4 gene G/C (rs7582694) single nucleotide polymorphism (SNP) in the patients with SLE (n=122) and in control group (n=127) was investigated among a sample population from Lorestan province. This SNP was genotyped based on using two methods including PCR-RFLP (polymerase chain reactionrestriction fragment 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 to the major allele G (normal allele) was significantly higher in SLE patients than the controls. In addition, it showed a significant association (odds ratio [OR] = 1.623, 95% CI = 1.111-2.370, P = 0.012) with susceptibility to SLE. Moreover, a significant correlation (OR = 2.249, 95% CI = 1.031–4.904, P = 0.042) was found between the rs7582694 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 STAT4 gene G/C (rs7582694) SNP and the increased risk of SLE. However, no association was observed between the above-mentioned gene and anti-dsDNA or ANA that are some of the symptoms of SLE.
Highlights
Systemic lupus erythematosus (SLE) is a multifactorial, inflammatory autoimmune disease with a broad spectrum of clinical presentations, as well as antinuclear antibodies (ANA) and anti-dsDNA antibodies [1,2,3]
It means that the average age of the control group was higher than that of the patients. Since this disease often occurs at an early age, it is concluded that the existing control samples are perfectly suited for comparison with the existing patients
The C allele frequency in the patients was significantly higher than that of the control group (OR = 1.623, 95% confidence intervals (CI) = 1.111-2.370, P = 0.012)
Summary
Systemic lupus erythematosus (SLE) is a multifactorial, inflammatory autoimmune disease with a broad spectrum of clinical presentations, as well as antinuclear antibodies (ANA) and anti-dsDNA antibodies [1,2,3]. The prevalence of STAT4 gene G/C (rs7582694) single nucleotide polymorphism (SNP) in the patients with SLE (n=122) and in control group (n=127) was investigated among a sample population from Lorestan province. Results: According to the obtained results, the frequency of minor allele C from this SNP (related allele with the disease) as compared to the major allele G (normal allele) was significantly higher in SLE patients than the controls. It showed a significant association (odds ratio [OR] = 1.623, 95% CI = 1.111-2.370, P = 0.012) with susceptibility to SLE.
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