Variant Analysis of the Sirtuin (SIRT1) Gene in Multiple Sclerosis

Abstract

Objective: Multiple sclerosis (MS) is an inflammatory demyelinating disease affecting the central nervous system. Although the exact pathogenesis of MS is unknown, it is generally considered to be an autoimmune disease, with numerous genetic and environmental factors determining disease susceptibility and severity. Sirtuin 1 (SIRT1) is a neuroprotective enzyme in MS patients. The aim of our study was to investigate the relationship between a genetic variant of SIRT1 and MS. Design: Controlled prospective study Setting: Department of Neurology, Bulent Ecevit University Medical Faculty, Zonguldak, Turkey Subjects and Methods: We determined SIRT1 genotypes by polymerase chain reaction (PCR) and confronting two-pair primers (CTPP) methods in 93 MS patients and 100 healthy controls Intervention: For genetic analysis, 5 ml of venous blood was drawn from each patient into tubes containing EDTA Main Outcome Measures: SIRT1 gene polymorphisms and recorded expanded disability status scale (EDSS) for MS patients Results: We found a significant difference between the rs2273773 polymorphism of the SIRT1 gene of MS and the control group (p = 0.011). We also found an association between MS disease and the haplotypes of rs7895833, rs7069102 and rs2273773 polymorphisms. Conclusion: We have shown that rs2273773 polymorphism of the SIRT1 gene might be a risk factor for MS disease in the Turkish population. Also, additional studies are needed to clarify the role of the SIRT1 gene in the pathogenesis of MS disease.