Survivin gene expression in PBMCs from patients with systemic sclerosis

Background: Systemic sclerosis (SSc) is a rheumatologic disease and fibroblasts are the main cells responsible ‎for SSc pathogenesis. BIRC5 gene encodes survivin, an inhibitor of apoptosis protein. Studies suggested a role for ‎survivin overexpression leading to decreased apoptosis of fibroblasts in SSc patients. In this study, we aimed to ‎explore the frequencies of two SNPs in the BIRC5 gene, the rs9904341 (G>C) and rs17878467 (C>T) in SSc ‎patients, and evaluate the gene expression of Survivin in the patients' PBMCs compared to healthy individuals.‎Method and participants: We assessed the allelic and genotypic frequencies of rs9904341 in 459 SSc patients ‎and 488 healthy controls. For the rs17878467 SNP, we analyzed the Survivin gene in 214 SSc patients and 246 ‎controls. The genomic analyses were carried out over DNA samples isolated from PBMCs by the phenol-‎chloroform method. We used TaqMan rt-PCR to investigate the Survivin gene alleles. Also, we investigated the ‎Survivin gene expression in 53 patients (lSSc = 25, dSSc =28) and 55 controls. The gene expression was assessed ‎by specific primers for the Survivin gene (SYBR Green Real-time PCR‏ ‏method).‎Results: The allelic and genotypic frequencies of both SNPs showed no significant difference in patients and ‎controls. However, the Survivin expression level was significantly lower in limited SSc (lSSc), and total SSc ‎patients in comparison to controls.‎Conclusion: Our results suggested the survivin might have a role in the pathogenesis of SSc. However, more ‎researches are needed to confirm the relationship.‎