title: ApaI, BsmI and TaqI VDR gene polymorphisms in association with multiple sclerosis in Slovaks.
abstract: OBJECTIVE
  Vitamin D acts through vitamin D receptor (VDR) and has promising beneficial effects in the development and progression of multiple sclerosis (MS). The purpose of our study was to investigate the possible association of the VDR gene polymorphisms ApaI, BsmI and TaqI with the MS susceptibility and with the rate of disease disability progression in the Central European Slovak population.
  
  
  METHODS
  The allele and genotype variants of ApaI, TaqI and BsmI VDR gene polymorphisms were analysed in 270 clinically diagnosed MS patients and 303 healthy controls. Genotyping was performed by polymerase chain reaction and restriction analysis. Patients were stratified by the rate of disease disability progression using MSSS scores.
  
  
  RESULTS
  By logistic regression analysis, we revealed that genotype BB (AA) of BsmI VDR gene polymorphism is decreasing the risk of MS (BB (AA) vs Bb (AG) + bb (GG); OR = 0.59, 95% CI = 0.39-0.90, plog = 0.014). We did not identify any association of ApaI and TaqI polymorphisms neither with MS development nor with the disease progression.
  
  
  CONCLUSIONS
  We showed for the first time that BsmI genotype BB (AA) is associated with the decreased susceptibility to MS in Slovak population. We propose the BsmI gene polymorphism to be one of the important genetic markers in evaluation of the risk of MS. However, our data suggest that VDR gene polymorphisms ApaI, BsmI and TaqI are not useful in the prediction of disease disability progression rate in MS in Slovaks.
authors.affiliation: a Department of Clinical Biochemistry, Jessenius Faculty of Medicine , Comenius University in Bratislava and University Hospital Martin , Martin , Slovak Republic.
authors.forename: Daniel
authors.initials: D
authors.lastname: Čierny
authors.affiliation: c Department of Neurology, Jessenius Faculty of Medicine , Comenius University in Bratislava and University Hospital Martin , Martin , Slovak Republic.
authors.forename: Jozef
authors.initials: J
authors.lastname: Michalik
authors.affiliation: a Department of Clinical Biochemistry, Jessenius Faculty of Medicine , Comenius University in Bratislava and University Hospital Martin , Martin , Slovak Republic.
authors.forename: Mária
authors.initials: M
authors.lastname: Škereňová
authors.affiliation: c Department of Neurology, Jessenius Faculty of Medicine , Comenius University in Bratislava and University Hospital Martin , Martin , Slovak Republic.
authors.forename: Ema
authors.initials: E
authors.lastname: Kantorová
authors.affiliation: c Department of Neurology, Jessenius Faculty of Medicine , Comenius University in Bratislava and University Hospital Martin , Martin , Slovak Republic.
authors.forename: Štefan
authors.initials: Š
authors.lastname: Sivák
authors.affiliation: d Institute of Immunology, Faculty of Medicine , Comenius University in Bratislava , Bratislava , Slovakia.
authors.forename: Juraj
authors.initials: J
authors.lastname: Javor
authors.affiliation: c Department of Neurology, Jessenius Faculty of Medicine , Comenius University in Bratislava and University Hospital Martin , Martin , Slovak Republic.
authors.forename: Egon
authors.initials: E
authors.lastname: Kurča
authors.affiliation: b Department of Medical Biochemistry and BioMed, Jessenius Faculty of Medicine in Martin , Comenius University in Bratislava , Martin , Slovak Republic.
authors.forename: Dušan
authors.initials: D
authors.lastname: Dobrota
authors.affiliation: b Department of Medical Biochemistry and BioMed, Jessenius Faculty of Medicine in Martin , Comenius University in Bratislava , Martin , Slovak Republic.
authors.forename: Ján
authors.initials: J
authors.lastname: Lehotský
mesh_terms: D000328:Adult; D016009:Chi-Square Distribution; D004185:Disability Evaluation; D018450:Disease Progression; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D018167:Receptors, Calcitriol / Q000235:genetics*; D018154:Slovakia / Q000453:epidemiology
chemical_list: D018167:Receptors, Calcitriol; C579457:VDR protein, human
keywords: ApaI; BsmI; Disability progression; Gene polymorphism; MSSS; Multiple sclerosis; TaqI; Vitamin D receptor