Daniel Čierny1, Jozef Michalik2, Mária Škereňová1, Ema Kantorová2, Štefan Sivák2, Juraj Javor3, Egon Kurča2, Dušan Dobrota4, Ján Lehotský4. 1. a Department of Clinical Biochemistry, Jessenius Faculty of Medicine , Comenius University in Bratislava and University Hospital Martin , Martin , Slovak Republic. 2. c Department of Neurology, Jessenius Faculty of Medicine , Comenius University in Bratislava and University Hospital Martin , Martin , Slovak Republic. 3. d Institute of Immunology, Faculty of Medicine , Comenius University in Bratislava , Bratislava , Slovakia. 4. b Department of Medical Biochemistry and BioMed, Jessenius Faculty of Medicine in Martin , Comenius University in Bratislava , Martin , Slovak Republic.
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. DISCUSSION: 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.
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. DISCUSSION: 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.