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

Čierný, Daniel; Michalík, Jozef; Kurča, Egon; Dobrota, Dušan; Lehotský, Ján

doi:10.1179/1743132814y.0000000459

Cited by 22 publications

(26 citation statements)

References 36 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The findings of our previous study in MS patients from the Central-Northern region of Slovakia have confirmed the association of FokI heterozygous genotype Ff with an increased risk of MS in women [10]. Although we found no statistically significant differences in the proportions of FokI genotypes or allele frequencies between total MS patient and the control group, we have observed significant differences in the FokI genotype distribution between women with MS and the female control group (p = 0.042 ).…”

Section: Genetic Variants In Vitamin D Receptor Gene In Mssupporting

confidence: 84%

“…HLA-haplotypes DRB1*13-DQB1*06, DRB1*11-DQB1*03 Table 3. The proposed markers associated with the MS risk or disability progression in Slovaks [10,41,65].…”

Section: Discussionmentioning

confidence: 99%

“…To evaluate the disease progression rate, we used the widely accepted multiple sclerosis severity score (MSSS, score range 0.01-9.99) [8] that considers the neurological impairment of the functional systems (expanded disability status scale score) [9] together with disease duration. For the purpose of the association analysis of these markers with the rate of disease disability progression, we stratified MS patients by MSSS scores to three groups-slowly progressing MS (MSSS < 3), mid-rate progressing MS (MSSS 3-6) and rapidly progressing MS (MSSS > 6) [10].…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Genetic and Biochemical Factors Related to the Risk and Disability Progression in Multiple Sclerosis

Čierný¹,

Michalík²,

Kantorová³

et al. 2016

Trending Topics in Multiple Sclerosis

Self Cite

View full text Add to dashboard Cite

Sclerosis multiplex (multiple sclerosis, MS) is a chronic autoimmune inflammatory disease of the central nervous system. The immune regulatory defects lead to the process of inflammation and neurodegenerationthat results in the deterioration of neurological functions. It is still unclear as to why MS is so devastating and rapidly progressive in one patient and less so in another. It is known that the etiopathogenesis of MS is very complex, and many factors can be involved in the risk and character of the disease and its progression. In this chapter, we discuss the general molecular and cellular mechanisms of action of genetic and biochemical factors that are related to immune system regulation and thus can be connected to the individually varying risk and disability progression of MS. We found that gene variants of the gene polymorphism rs6897932 in interleukin 7 receptor α chain gene rs10735810 in vitamin D receptor gene and HLA-DR and HLA-DQ genes as well as the serum level of vitamin D are associated with MS risk or disability progression in Central European Slovak population.

show abstract

Section: Genetic Variants In Vitamin D Receptor Gene In Mssupporting

confidence: 84%

“…HLA-haplotypes DRB1*13-DQB1*06, DRB1*11-DQB1*03 Table 3. The proposed markers associated with the MS risk or disability progression in Slovaks [10,41,65].…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Genetic and Biochemical Factors Related to the Risk and Disability Progression in Multiple Sclerosis

Čierný¹,

Michalík²,

Kantorová³

et al. 2016

Trending Topics in Multiple Sclerosis

Self Cite

View full text Add to dashboard Cite

show abstract

“…2-13.3) genes code for key enzymes involved in vitamin D anabolism and catabolism, 25-hydroxyvitamin D-1-hydroxylase and 25-hydroxyvitamin D-24-hydroxylase, respectively [11]. Identified polymorphisms in vitamin D related genes were extensively studied in relation to various types of diseases, such as cancer [14][15][16], autoimmune [17,18], and inflammatory diseases [19,20]. Our research group previously reported association between VDR and CYP24A1 gene polymorphisms with oral cancer risk and survival [21], while polymorphisms in these genes have not previously been investigated in OLP patients.…”

Section: Introductionmentioning

confidence: 99%

Association of vdr, cyp27b1, cyp24a1 and mthfr gene polymorphisms with oral lichen planus risk

et al. 2015

View full text Add to dashboard Cite

show abstract

“…Despite it, there have not been found statistically significant differences in the proportions of FokI genotypes or allele frequencies between total MS patient and the control group. Authors also observed a trend of higher frequency of homozygotes FF in MS patients with rapid disease progression in comparison to the slow progressing MS patients (OR 1.93; 95 % CI 0.94 -3.94; p=0.071) [9]. The aim of our work was to analyse selected genetic changes (GSTM1, GSTT1 null genotypes; rs1695 GSTP1, rs10735781 EVI5) in a group of Slovak MS patients and to shed light on their potential importance for disease onset or disability rate.…”

Section: Discussionmentioning

confidence: 77%

Genetic Factors Associated with Risk and Disability Progression of Multiple Sclerosis in Slovak Population

Hanysova

Čierný

Kurča

et al. 2017

Acta Medica Martiniana

View full text Add to dashboard Cite

A b s t r a c tObjective: The aim of our study was to determine the relation of particular genetic variants in selected genes (GSTM1, GSTT1 null genotypes; rs1695 GSTP1; rs10735781 EVI5) to the risk of multiple sclerosis (MS) development and find out the possible association with disease disability progression rate.Material and methods: Our study included 202 MS patients and 174 healthy control volunteers. MS patients were divided according to disability progression rate to three groups -slowly progressing, mid-rate progressing and rapidly progressing. All DNA samples were isolated from venous blood. Genotyping was performed by PCR-RFLP and multiplex PCR.Results: Our analysis showed that GSTT1 null genotype (OR 0.56; 95%CI 0.33 -0.95; p=0.04) and GSTM1, GSTT1 double null genotype (OR 0.32; 95%CI 0.14 -0.74; p=0.006) are potentially protective in relation to MS. We observed similar result in GSTT1 null genotype in association with mid-rate progression (OR 0.48; 95%CI 0.24 -0.97; p=0.05). Frequency of GSTM1 and GSTT1 double null genotype is significantly lower in subgroup of MS patients with progression rate defined as slow (OR 0.22; 95%CI 0.05 -0.98; p=0.05) and middle (OR 0.33; p=0.045). We did not show any significant association of genetic changes rs1695 in GSTP1 and rs10735781 in EVI5 with MS or rate of disease progression.Conclusions: Genetic basis of multiple sclerosis is still not fully elucidated. Further research may clarify our results and confirm the value of studied factors for clinical practice.

show abstract

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

Abstract: 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.

Cited by 22 publications

References 36 publications

Genetic and Biochemical Factors Related to the Risk and Disability Progression in Multiple Sclerosis

Genetic and Biochemical Factors Related to the Risk and Disability Progression in Multiple Sclerosis

Association of vdr, cyp27b1, cyp24a1 and mthfr gene polymorphisms with oral lichen planus risk

Genetic Factors Associated with Risk and Disability Progression of Multiple Sclerosis in Slovak Population

Contact Info

Product

Resources

About