title: Age- and gender-specific effects on VDR gene polymorphisms and risk of the development of multiple sclerosis in Tunisians: a preliminary study.
abstract: The vitamin D receptor (VDR) polymorphisms have been reported to be associated with multiple sclerosis (MS); however, evidence remains conflicting. In this report, we investigated the association between two single nucleotide polymorphisms (SNPs) TaqI and ApaI of VDR gene and risk development of MS. TaqI and ApaI SNPs were detected by PCR-RFLP from the DNA of 60 Tunisian patients with MS and 114 healthy controls. Our results show a significant difference of the allelic frequency distribution between the case and control groups for TaqI SNP (P = 0.01), but genotype frequencies were not significantly different (P = 0.07 and 0.23). When adjusting frequency distribution of different alleles and genotypes by age, we found that the difference between the T allele frequencies of this SNP in the group of patients age [15-24] in comparison with the control group of the same age group was statistically significant (P = 0.026). Moreover, frequency of the T allele was significantly higher in male patients compared with controls of the same sex (P = 0.017). However, neither the genotype nor the allele frequency distribution was significantly different between the MS and control populations for the ApaI SNP. Our preliminary results indicate that VDR gene polymorphism could be associated with susceptibility to MS. The role of VDR gene polymorphism should be further studied in other large populations, and the distribution of other polymorphism, such as FokI and BsmI, should be also analysed to confirm another susceptibility polymorphisms gene for MS and to obtain more adequate strategies for treatment of MS.
authors.affiliation: Laboratory of Microbiology and Immunology, UR12SP34, Farhat Hached University Hospital, Sousse, Tunisia.
authors.forename: W
authors.initials: W
authors.lastname: Ben-Selma
authors.affiliation: Laboratory of Transmissible Diseases and Biological Active substances, LR99-ES27, Faculty of Pharmacy, University of Monastir, Monastir, Tunisia.
authors.forename: N
authors.initials: N
authors.lastname: Ben-Fredj
authors.affiliation: Department of Neurology, Fattouma Bourguiba University Hospital, Monastir, Tunisia.
authors.forename: S
authors.initials: S
authors.lastname: Chebel
authors.affiliation: Department of Neurology, Fattouma Bourguiba University Hospital, Monastir, Tunisia.
authors.forename: M
authors.initials: M
authors.lastname: Frih-Ayed
authors.affiliation: Laboratory of Transmissible Diseases and Biological Active substances, LR99-ES27, Faculty of Pharmacy, University of Monastir, Monastir, Tunisia.
authors.forename: M
authors.initials: M
authors.lastname: Aouni
authors.affiliation: Laboratory of Microbiology and Immunology, UR12SP34, Farhat Hached University Hospital, Sousse, Tunisia.
authors.forename: J
authors.initials: J
authors.lastname: Boukadida
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000483:Alleles; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics*; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics*; D012737:Sex Factors; D014416:Tunisia; D055815:Young Adult
chemical_list: D018167:Receptors, Calcitriol