Contributions
Abstract: EP1473
Type: ePoster
Abstract Category: Pathology and pathogenesis of MS - 14 Genetics/Epigenetics
Background: Vitamin D has a large scale of immunomodulatory and antiinflammatory effects and it has been found to be involved in modulation of the risk and clinical course of multiple sclerosis (MS). The production of active form of vitamin D (calcitriol) is catalysed by 25-hydroxyvitamin D-1α-hydroxylase, also known as CYP27B1. It is still not completely clear, whether the single nucleotide polymorphisms in CYP27B1 gene could be related to the biological effects of vitamin D and thus to MS pathogenesis.
Objectives: The aim of our present study was to assess the association of the allele and genotype variants of rs703842 (C/T) in CYP27B1 gene with the risk of MS development in Slovaks.
Methods: In our study, genotypes of rs703842 in CYP27B1 gene were analysed in the group of 261 MS patients (87,4 % relapsing-remitting, 12,6 % secondary progressive) and 291 healthy age and sex-matched control subjects from central and northern Slovakia. Genotyping was performed by the polymerase chain reaction and restriction analysis.
Results: The allele T was found to be present in higher frequency in MS patients when compared to healthy controls (0.715 vs. 0.637, p< 0.01). We also detected a significantly higher frequency of genotype TT in MS patients when compared to controls (0.513 vs 0.436, p< 0.01).
Conclusions: We identified an increased frequency of minor allele T and genotype TT of rs703842 in CYP27B1 gene in a cohort MS patients of Central European Slovak origin. The results of our study confirmed the role of rs703842 in MS pathogenesis, suggesting the allele T and genotype TT to be the genetic risk factors of MS development in Slovaks. Our findings support the hypothesis of genetic regulation of vitamin D effects in MS disease.
Acknowledgements: This work was supported by the grant APVV-15-0107.
Disclosure:
Daniel Čierny: nothing to disclose.
Jozef Michalik: nothing to disclose.
Ema Kantorová: nothing to disclose.
Egon Kurča: nothing to disclose.
Dušan Dobrota: nothing to disclose.
Ján Lehotský: nothing to disclose.
Abstract: EP1473
Type: ePoster
Abstract Category: Pathology and pathogenesis of MS - 14 Genetics/Epigenetics
Background: Vitamin D has a large scale of immunomodulatory and antiinflammatory effects and it has been found to be involved in modulation of the risk and clinical course of multiple sclerosis (MS). The production of active form of vitamin D (calcitriol) is catalysed by 25-hydroxyvitamin D-1α-hydroxylase, also known as CYP27B1. It is still not completely clear, whether the single nucleotide polymorphisms in CYP27B1 gene could be related to the biological effects of vitamin D and thus to MS pathogenesis.
Objectives: The aim of our present study was to assess the association of the allele and genotype variants of rs703842 (C/T) in CYP27B1 gene with the risk of MS development in Slovaks.
Methods: In our study, genotypes of rs703842 in CYP27B1 gene were analysed in the group of 261 MS patients (87,4 % relapsing-remitting, 12,6 % secondary progressive) and 291 healthy age and sex-matched control subjects from central and northern Slovakia. Genotyping was performed by the polymerase chain reaction and restriction analysis.
Results: The allele T was found to be present in higher frequency in MS patients when compared to healthy controls (0.715 vs. 0.637, p< 0.01). We also detected a significantly higher frequency of genotype TT in MS patients when compared to controls (0.513 vs 0.436, p< 0.01).
Conclusions: We identified an increased frequency of minor allele T and genotype TT of rs703842 in CYP27B1 gene in a cohort MS patients of Central European Slovak origin. The results of our study confirmed the role of rs703842 in MS pathogenesis, suggesting the allele T and genotype TT to be the genetic risk factors of MS development in Slovaks. Our findings support the hypothesis of genetic regulation of vitamin D effects in MS disease.
Acknowledgements: This work was supported by the grant APVV-15-0107.
Disclosure:
Daniel Čierny: nothing to disclose.
Jozef Michalik: nothing to disclose.
Ema Kantorová: nothing to disclose.
Egon Kurča: nothing to disclose.
Dušan Dobrota: nothing to disclose.
Ján Lehotský: nothing to disclose.