Systemic Lupus Erythematosus progression and the novel genetic variations in IL-22 and FoxP3 genes

Abstract Systemic Lupus Erythematosus (SLE) is one of the autoimmune disorders. It is thought that the deregulation in the inflammatory markers is due to a problem in the Forkhead box family member (FOXP3) which is involved in the tolerance mechanism. One cannot ignore the role of cytokine-mediated signaling pathways like IL-22. This study was done in Lahore. Pakistan. The main objective of the study was to check the alliance of FoxP3 and IL-22 gene polymorphism in association with SLE. Sixty samples (n = 60) from SLE patients were collected from different hospitals in Lahore. DNA was extracted from EDTA anticoagulated blood of SLE patients. After DNA extraction, IL-22 and FoxP3 genes were polymerized through PCR and further sequenced through the Sanger Sequencing method. The FoxP3 exon 2 and three SNPs in IL-2 i.e. rs2227491, rs2227485, and rs2227513 which were already identified were confirmed by Chromas 2.6. The mutations were checked with the help of Nucleotide Blast. Our observation showed that there are nine mutations in studied genotyped samples. The frequency of mutation was 27.27%. Allele T in rs2227485 and, allele C in rs2227513 and rs2227491 were identified in the study predominantly. These 9 mutations were found in the case of the IL-22 gene. No mutation was observed in Exon 2 of the FoxP3 gene in SLE patients. It is concluded that there may be any association between IL-22 gene polymorphism and SLE but the FoxP3 gene was not tangled in the progression of SLE in the Lahore population.