title: Predisposing role of vitamin D receptor (VDR) polymorphisms in the development of multiple sclerosis: A case-control study.
abstract: Multiple sclerosis (MS) is a chronic inflammatory, demyelinating, and neurodegenerative disease of the central nervous system (CNS) with a complex etiology. Given the Vitamin D receptor (VDR) gene, it is considered an outstanding risk component associated with MS. The aim of the present study has been to explore and emphasize the role of ApaI, BsmI, TaqI and FokI polymorphisms of VDR gene in susceptibility to MS in an Iranian case-control population including 160 patients and 150 healthy controls. All cases were clinically diagnosed with relapsing-remitting (RR) form, and the controls were age, gender, and race matched which were completely in agreement with the case group. PCR-R FLP was conducted for all the SNPs genotyping. The findings of the study showed a significant difference in allele frequency between the cases and controls for ApaI (p<0.0002), BsmI (p<0.0002) and TaqI (p<0.0001), while no significant difference was observed for FokI (P>0.0125). The results also showed that AA genotype polymorphism of ApaI and BsmI (OR=4.6 and OR=2.52, respectively), CC genotype of TaqI (OR=2.41) and AC genotype of ApaI (OR=1.79) are associated with the disease status. Nevertheless, the results revealed the protective role of TT genotype of TaqI (ORs<1), CC genotype of Apal, and GG genotype of BsmI (ORs<1). VDR polymorphisms seem to have a notable connection with MS pathogenesis, however, study of more big population and functional work on the gene structure and its function are recommended.
authors.affiliation: Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Rasoul
authors.initials: R
authors.lastname: Abdollahzadeh
authors.affiliation: Department of Immunology, School of Medicine, Hamedan University of Medical Sciences, Hamedan, Iran; Student research center, Hamadan University of Medical sciences. Hamadan, Iran.
authors.forename: Mahsa Sobhani
authors.initials: MS
authors.lastname: Fard
authors.affiliation: Department of Medical Biotechnology, School of Medicine, Hamedan University of Medical Sciences, Hamedan, Iran.
authors.forename: Farideh
authors.initials: F
authors.lastname: Rahmani
authors.affiliation: Department of Radiology and Radiobiology, school of Paramedical Science, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: Kaveh
authors.initials: K
authors.lastname: Moloudi
authors.affiliation: Department of Microbiology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: Behrooz Sadeghi
authors.initials: BS
authors.lastname: Kalani
authors.affiliation: Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Cellular and Molecular research center, School of Medicine, Kurdistan University of Medical Sciences, Sanandaj, Kurdistan, Iran. Electronic address: Azarnezhad@gmail.com.
authors.forename: Asaad
authors.initials: A
authors.lastname: Azarnezhad
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D060005:Genotyping Techniques; D006801:Humans; D007492:Iran; D008297:Male; D020529:Multiple Sclerosis, Relapsing-Remitting / Q000235:genetics*; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D018167:Receptors, Calcitriol / Q000235:genetics*
chemical_list: D018167:Receptors, Calcitriol; C579457:VDR protein, human
keywords: Genetic association studies; Multiple sclerosis; Single nucleotide polymorphism; Vitamin D receptor