BACKGROUND The persistent the inflammatory condition in multiple sclerosis (MS) may due to the aberrant regulation of the elimination of the pathogenic autoreactive lymphocytes through apoptosis. Survivin, encoded by the BIRC5 gene, has been indicated to be involved in the regulation of apoptosis. This survey intended to investigate the genetic and microRNA mediated regulation of survivin in relapsing-remitting MS (RRMS) disease. RESULTS It was observed that the C allele (OR = 1.38, 95% CI = 1.05-1.348, P = 0.022) and CC genotype (OR = 1.84, 95% CI = 1.06-3.19; P = 0.029) in the rs9904341 polymorphism increased the disease risk. Furthermore, miR-34a was significantly downregulated (Fold change = 0.41, P = 0.001) in the PBMCs from RRMS subjects. Survivin mRNA expression in PBMCs and serum survivin level were increased in RRMS patients in comparison to the controls. Downregulation of miR-34a was negatively correlated with increased survivin level. CONCLUSION Although the genetic polymorphism of BIRC5 gene was associated with the disease risk, miR-34a was suggested to be involved in the regulation of survivin in the RRMS patients.

中文翻译：

---

多发性硬化症患者中survivin编码基因BIRC5的遗传多态性和表观遗传调控。

背景技术多发性硬化症（MS）中持续的炎性状况可能是由于通过细胞凋亡消除病原性自身反应性淋巴细胞的异常调节所致。已经表明，由BIRC5基因编码的Survivin参与细胞凋亡的调控。这项调查旨在调查复发和缓解型MS（RRMS）疾病中survivin的遗传和microRNA介导调控。结果观察到rs9904341多态性的C等位基因（OR = 1.38，95％CI = 1.05-1.348，P = 0.022）和CC基因型（OR = 1.84，95％CI = 1.06-3.19; P = 0.029）增加疾病风险。此外，在RRMS受试者的PBMC中，miR-34a显着下调（倍数= 0.41，P = 0.001）。与对照组相比，RRMS患者的PBMC中Survivin mRNA表达和血清Survivin水平升高。miR-34a的下调与生存素水平升高呈负相关。结论尽管BIRC5基因的遗传多态性与疾病风险相关，但建议在RRMS患者中miR-34a参与survivin的调节。