Abstract
Among the factors postulated to play a role in MS susceptibility, the role of vitamin D is outstanding. Since the function of vitamin D receptor (VDR) represents the effect of vitamin D on the body and genetic variations in VDR gene may affect its function, we aim to highlight the association of two VDR gene polymorphisms with MS susceptibility. In current study, we recruited 113 MS patients and 122 healthy controls. TaqI (rs731236) and ApaI (rs7975232) genetic variations in these two groups were evaluated using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. All genotype and allele frequencies in both variations showed association with the disease status. However, to find the definite connection between genetic variations in VDR gene and MS disease in a population of South East of Iran, more researches on gene structure and its function with regard to patients' conditions are required.
Highlights
Multiple sclerosis (MS) (OMIM126200) is a chronic inflammatory, neurodegenerative, demyelinating, and accumulating debilitative disease of the central nervous system (CNS) with a complex etiology that affects over 2.1 million people worldwide [1]
Specific variations of the vitamin D receptor (VDR) gene may alter vitamin D function and metabolism and have been investigated in studies evaluating the function of vitamin D on MS [23]. These findings suggest that allelic variation of the VDR gene may at least partially represent the genetic component of MS disease
It appears that the frequency of vitamin D deficiency has a significant role in causing the disease [27]
Summary
Multiple sclerosis (MS) (OMIM126200) is a chronic inflammatory, neurodegenerative, demyelinating, and accumulating debilitative disease of the central nervous system (CNS) with a complex etiology that affects over 2.1 million people worldwide [1]. Genetic and environmental elements play a chief role, whether in synergistic or in independent manners [2]. Many genes have been identified in predisposing to MS disease. Genomewide association studies (GWAS) suggested more than 20 loci in MS susceptibility, including vitamin D receptor (VDR) gene [3, 4]. According to the recent studies of the role of vitamin D in MS, this association seems reasonable. Vitamin D as a secosteroid hormone is predominantly produced from 7-dehydrocholesterol in the skin during the exposure to ultraviolet (UV) radiation of the sunlight and by dietary intake as well. The active form of vitamin D (1,25-dihydroxyvitamin D3) is identified as a ligand for VDR
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