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

J 2018

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

KŘENEK, Pavel, Yvonne BENEŠOVÁ, Julie BIENERTOVÁ VAŠKŮ and Anna VAŠKŮ

Basic information

Original name

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

Authors

KŘENEK, Pavel (203 Czech Republic, belonging to the institution), Yvonne BENEŠOVÁ (203 Czech Republic, guarantor, belonging to the institution), Julie BIENERTOVÁ VAŠKŮ (203 Czech Republic, belonging to the institution) and Anna VAŠKŮ (203 Czech Republic, belonging to the institution)

Edition

Journal of Molecular Neuroscience, USA, Springer New York, 2018, 0895-8696

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30103 Neurosciences

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

Impact factor

Impact factor: 2.577

RIV identification code

RIV/00216224:14110/18:00102534

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.1007/s12031-018-1034-1

UT WoS

000431214500009

Keywords in English

Multiple sclerosis; Single-nucleotide polymorphism; Vitamin D receptor; EDSS; MSSS

Abstract

V originále

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.

Links

MUNI/A/1426/2015, interní kód MU

Name: Genetická a epigenetická patofyziologie vybraných stavů (Acronym: Genetika a epigenetika)

Investor: Masaryk University, Category A

MUNI/A/1549/2014, interní kód MU

Name: Experimentální molekulární patofyziologie vybraných komplexních chorob/ stavů (Acronym: markery komplexních nemocí)

Investor: Masaryk University, Category A

Citovat

KŘENEK, Pavel, Yvonne BENEŠOVÁ, Julie BIENERTOVÁ VAŠKŮ and Anna VAŠKŮ. The Impact of Five VDR Polymorphisms on Multiple Sclerosis Risk and Progression: a Case-Control and Genotype-Phenotype Study. Journal of Molecular Neuroscience. USA: Springer New York, 2018, vol. 64, No 4, p. 559-566. ISSN 0895-8696. Available from: https://dx.doi.org/10.1007/s12031-018-1034-1.

@article{1413682,
   author = {Křenek, Pavel and Benešová, Yvonne and Bienertová Vašků, Julie and Vašků, Anna},
   article_location = {USA},
   article_number = {4},
   doi = {http://dx.doi.org/10.1007/s12031-018-1034-1},
   keywords = {Multiple sclerosis; Single-nucleotide polymorphism; Vitamin D receptor; EDSS; MSSS},
   language = {eng},
   issn = {0895-8696},
   journal = {Journal of Molecular Neuroscience},
   title = {The Impact of Five VDR Polymorphisms on Multiple Sclerosis Risk and Progression: a Case-Control and Genotype-Phenotype Study},
   volume = {64},
   year = {2018}
}

TY  - JOUR
ID  - 1413682
AU  - Křenek, Pavel - Benešová, Yvonne - Bienertová Vašků, Julie - Vašků, Anna
PY  - 2018
TI  - The Impact of Five VDR Polymorphisms on Multiple Sclerosis Risk and Progression: a Case-Control and Genotype-Phenotype Study
JF  - Journal of Molecular Neuroscience
VL  - 64
IS  - 4
SP  - 559-566
EP  - 559-566
PB  - Springer New York
SN  - 08958696
KW  - Multiple sclerosis
KW  - Single-nucleotide polymorphism
KW  - Vitamin D receptor
KW  - EDSS
KW  - MSSS
N2  - 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.
ER  -

KŘENEK, Pavel, Yvonne BENEŠOVÁ, Julie BIENERTOVÁ VAŠKŮ and Anna VAŠKŮ. The Impact of Five VDR Polymorphisms on Multiple Sclerosis Risk and Progression: a Case-Control and Genotype-Phenotype Study. \textit{Journal of Molecular Neuroscience}. USA: Springer New York, 2018, vol.~64, No~4, p.~559-566. ISSN~0895-8696. Available from: https://dx.doi.org/10.1007/s12031-018-1034-1.

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