FokI vitamin D receptor gene polymorphism in association with multiple sclerosis risk and disability progression in Slovaks

Abstract

Objective:

It is still unclear as to why multiple sclerosis (MS) is so devastating and rapidly progressive in one patient and less so in another. Recent data implicate vitamin D in modulation of the risk as well as the clinical course of disease. Since vitamin D acts through the vitamin D receptor (VDR), association of single nucleotide polymorphisms (SNPs) in the VDR gene might account for variations in the MS risk within populations. The aim of our study was to determine the association between FokI gene polymorphism (rs10735810) and the risk of MS in a cohort of Slovak population and to investigate possible correlations of this SNP with the rate of disease disability progression. Methods: FokI SNP was detected in 270 clinically diagnosed MS patients and 303 healthy control subjects. Genotyping was performed by polymerase chain reaction (PCR) and restriction analysis. We used multiple sclerosis severity score (MSSS) for patient’s stratification by the rate of disease disability progression. Results: We observed a significantly higher frequency of Ff genotype of FokI SNP (53·4 vs 43·7%, P  =  0·042) in women with MS compared to women of the control group. There was no significant association between FokI SNP and the rate of disease disability progression. Discussion: Although our findings suggest a weak association between VDR SNP FokI and the MS risk in women, further studies are needed to explore the role of VDR polymorphic alterations in MS disease etiology and pathogenesis.

Keywords:

• Multiple sclerosis
• MSSS
• Disability progression
• Vitamin D receptor
• FokI gene polymorphism

Acknowledgements

The authors would like to thank T. Jaunky, Dr N. A. Yeboah, and Dr S. Mahmood for editing English grammar in the manuscript. This study was supported by the grants VEGA 213/12 from the Ministry of Education of the Slovak Republic, 2012/30-UKMA-7: Biological and molecular markers of multiple sclerosis from Ministry of Health of the Slovak Republic and by the project “Identification of novel markers in diagnostic panel of neurological diseases” code: 26220220114 co-financed from EU sources and European Regional Development Fund.