Systemic Lupus Erythematosus Progression and role of Genetic Variation in IL-22 and FOXP3 gene in population of Lahore, Pakistan

Systemic Lupus Erythematosus (SLE) is one of autoimmune disorders. It is thought that the deregulation in the inflammatory markers is due to problem in Forkhead box family member (FOXP3) which is involved in tolerance mechanism. One cannot ignore the role of cytokine-mediated signaling pathways like IL-22. This study was done in the Lahore. Pakistan. The main objective of the study was to monitor the patients of SLE. The purpose was to check the alliance of FoxP3 and IL-22 gene polymorphism. Sixty samples (n = 60) were collected from different hospitals of 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 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 was identified in the study predominantly. These 9 mutations were found in case of IL-22 gene. No mutation was observed in Exon 2 of FOXP3 gene in SLE patients. It is concluded that that there may be any association between IL-22 gene polymorphism and SLE but FOXP3 gene was not tangled in the progression of SLE in Lahore population.