Genetic variants in interleukin 7 receptor α chain (IL-7Ra) are associated with multiple sclerosis risk and disability progression in Central European Slovak population

Čierný, Daniel; Hanysova, Sandra; Michalík, Jozef; Kantorová, Ema; Kurča, Egon; Škereňová, Mária; Lehotský, Ján

doi:10.1016/j.jneuroim.2015.03.010

Cited by 17 publications

(11 citation statements)

References 25 publications

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“…В первую группу вошли пациенты с показателем по шкале MSSS >3 баллов (260 человек), что характеризует среднее и тяжелое течение РС (диапазон MSSS составляет 3,05-9,09, медиана 4,57). Вторую группу составили больные с показателем по шкале MSSS >3 баллов включитель-но (248 человек), что характеризует относительно легкое течение РС (диапазон MSSS составляет 0,13-2,95, медиана 1,77) [12].…”

Section: результаты и обсуждениеunclassified

“…Ассоциация полиморф-ных вариантов этих генов с предрасположенностью к РС была выявлена в одном из обзоров GWAS [10] и подтверждена в нескольких популяциях [8,9,11]. В ряде исследований [8,9,12] была обнаружена ас-социация полиморфных вариантов генов, кодирую-щих рецепторы цитокинов, не только с риском РС, но и с рядом его клинических характеристик. Одна-ко полученные результаты не могут быть однознач-но перенесены на другие этносы и предполагают проведение специальных исследований.…”

Section: Introductionunclassified

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Association analysis of cytokine receptors’ genes polymorphisms with clinical features of multiple sclerosis

Кулакова

Bashinskaya

Tsareva

et al. 2016

Z. nevrol. psikhiatr. im. S.S. Korsakova

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Section: результаты и обсуждениеunclassified

Section: Introductionunclassified

Association analysis of cytokine receptors’ genes polymorphisms with clinical features of multiple sclerosis

Кулакова

Bashinskaya

Tsareva

et al. 2016

Z. nevrol. psikhiatr. im. S.S. Korsakova

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“…Authors found a significantly decreased risk of MS development in carriers of allele T with genotype CT (OR 0.87, 95 % CI 0.61 -1.23; p=0.05) or TT (OR 0.565; 95 % CI 0.28 -1.13; p=0.05). Moreover, minor allele T and genotype TT are protective against rapid disease disability progression in MS [8]. The findings about rs10735810 in vitamin D receptor gene in Slovak MS patients have shown the association of heterozygous FokI Ff genotype with increased risk of MS in women (OR 1.48; 95 % CI 1.01 -2.16; p=0.042).…”

Section: Discussionmentioning

confidence: 99%

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

Hanysova

Čierný

Kurča

et al. 2017

Acta Medica Martiniana

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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.

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“…We have shown for the first time in a Central European Slovak population that allele C of rs6897932 is associated with the risk of MS, and allele T has a protective additive effect against MS susceptibility. Moreover,we revealed that minor allele T and genotype TT of rs6897932 in the IL7Ra gene are protective against rapid disease disability progression in MS [65].…”

Section: Genetic Variants In Interleukin 7 Receptor α Chain (Il-7ra) mentioning

confidence: 89%

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

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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.

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Genetic variants in interleukin 7 receptor α chain (IL-7Ra) are associated with multiple sclerosis risk and disability progression in Central European Slovak population

Cited by 17 publications

References 25 publications

Association analysis of cytokine receptors’ genes polymorphisms with clinical features of multiple sclerosis

Association analysis of cytokine receptors’ genes polymorphisms with clinical features of multiple sclerosis

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

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

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