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


CONCLUSIONS
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.
Daniel
D
Čierny
Jozef
J
Michalik
Egon
E
Kurča
Dušan
D
Dobrota
Ján
J
Lehotský
D000328:Adult; D018450:Disease Progression; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D009103:Multiple Sclerosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D018167:Receptors, Calcitriol / Q000235:genetics*; D012307:Risk Factors; D018154:Slovakia; D044465:White People / Q000235:genetics
D018167:Receptors, Calcitriol
Disability progression,; FokI gene polymorphism; MSSS,; Multiple sclerosis,; Vitamin D receptor,