The Impact of Five VDR Polymorphisms on Multiple Sclerosis Risk and Progression: a Case-Control and Genotype-Phenotype Study

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F18%3A00068765" target="_blank" >RIV/65269705:_____/18:00068765 - isvavai.cz</a>

Alternative codes found

RIV/00216224:14110/18:00102534

Result on the web

<a href="http://dx.doi.org/10.1007/s12031-018-1034-1" target="_blank" >http://dx.doi.org/10.1007/s12031-018-1034-1</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1007/s12031-018-1034-1" target="_blank" >10.1007/s12031-018-1034-1</a>

Result language

angličtina

Original language name

The Impact of Five VDR Polymorphisms on Multiple Sclerosis Risk and Progression: a Case-Control and Genotype-Phenotype Study

Original language description

Vitamin D receptor polymorphisms have been the target of many studies focusing on multiple sclerosis. However, previously reported results have been inconclusive. The objective of this study was to investigate the association between five vitamin D receptor polymorphisms (EcoRV, Fold, ApaI, TaqI. and BsmI) and multiple sclerosis susceptibility and its course. The study was carried out as a case-control and genotype-phenotype study, consisted of 296 Czech multiple sclerosis patients and 135 healthy controls. Genotyping was carried out using polymerase chain reaction and restriction analysis. In multiple sclerosis men, allele and/or genotype distributions differed in EcoRV, TaqI, BsmI, and ApaI polymorphisms as compared to controls (EcoRV, p(a) = 0.02; Taq, p(g) = 0.02, p(a) = 0.02; BsmI, p(g) = 0.02, p(a) = 0.04; ApaI, p(g) = 0.008, p(a) = 0.005). In multiple sclerosis women, differences in the frequency of alleles and genotypes were found to be significant in ApaI (controls vs multiple sclerosis women: p(g) = 0.01, p(a) = 0.05). Conclusive results were observed between multiple sclerosis women in the case of EcoRV [differences in Expanded Disability Status Scale (p = 0.05); CT genotype was found to increase the risk of primary progressive multiple sclerosis 5.5 times (CT vs CC+ TTp(corr) = 0.01, sensitivity 0.833, specificity 0.525. power test 0.823)] and Fold [borderline difference in Multiple Sclerosis Severity Score (p = 0.05)]. Our results indicate that the distribution of investigated vitamin D receptor polymorphisms is a risk factor for multiple sclerosis susceptibility and progression in the Czech population. The association between disease risk and polymorphisms was found to be stronger in men. The association of disease progression with polymorphisms was observed only in women.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

30103 - Neurosciences (including psychophysiology)

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2018

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Journal of Molecular Neuroscience

ISSN

0895-8696

e-ISSN

—

Volume of the periodical

64

Issue of the periodical within the volume

4

Country of publishing house

US - UNITED STATES

Number of pages

8

Pages from-to

559-566

UT code for WoS article

000431214500009

EID of the result in the Scopus database

2-s2.0-85044447905