Vitamin D Receptor Polymorphisms in the Turkish Population are associated with Multiple Sclerosis

Abstract Background: Multiple sclerosis (MS) is an inflammatory disease characterized by demyelination and axonal degeneration affecting the central nervous system (CNS). Unfortunately, very little is known about the etiology of this disease. Among the genetic factors suggested to be associated with this disease are polymorphisms to the vitamin D receptor (VDR). However, there is disagreement in the literature on this topic. Therefore, we tested the hypothesis that polymorphisms in the vitamin D receptor (VDR) are associated with MS. Aim: The aim of the study was to investigate the relationship of MS disease with VDR Fok-I, Bsm-I and Taq-I polymorphisms in Turkish population.Method: This study contains 271 MS patients and 203 healthy controls. Blood samples were taken from each subject to isolate genomic DNA by salting out method. VDR gene Fok-I, Bsm-I and Taq-I polymorphism regions for each patient and control were amplified by polymerase chain reaction (PCR). The PCR products were digested, and the genotypes were determined based on size of digested PCR products. Results: Our results demonstrate associations between MS disease and distribution of VDR Fok-I T/T polymorphism genotype, VDR Fok-I T allele frequency, distribution of VDR Taq-I C/C polymorphism genotype and VDR Taq-I C allele frequency (Pearson test, p0,05) or allele frequency (Pearson test, p>0,05). Furthermore, there was also an association between subtypes of MS disease and VDR Fok-I allele frequency (Pearson test, p0,05). No meaningful association was found between subtypes of MS for genotypes distribution and allele frequencies of Bsm-I and Taq-I polymorphisms (Pearson test, p>0,05).Conclusion: Fok-I and Taq-I VDR gene polymorphisms are significantly associated with MS disease in the Turkish population. However, there is no association between MS and the VDR gene Bsm-I polymorphism.