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TNFRSF1A polymorphisms and their role in multiple sclerosis susceptibility and severity in the Slovak population.

Abstract

Tumour necrosis factor (TNF)-mediated signalling plays a key role in inflammatory and neurodegenerative processes leading to the development of multiple sclerosis (MS). Recent studies have highlighted the role of tumour necrosis factor receptor superfamily member 1A (TNFRSF1A) gene encoding the type 1 TNF receptor in the genetic predisposition to MS. This study aimed to validate the association of TNFRSF1A rs1800693 and rs4149584 polymorphisms with susceptibility to MS in the Slovak population and analyse their influence on age at disease onset, severity, and disability progression. Polymerase chain reaction-restriction fragment length polymorphism method was used to genotype both TNFRSF1A polymorphisms in 541 MS patients and 724 healthy controls. Logistic regression analysis revealed a significantly increased risk of developing MS for the carriers of rs1800693 C allele (TC + CC vs. TT: pcorr = 0.005; OR = 1.61; 95% CI = 1.23-2.12), irrespective of sex and carriage of the major MS risk allele HLA-DRB1*15:01. On the other hand, no association could be found between rs4149584 and MS risk (GA + AA vs. GG: pcorr = 1.00; OR = 1.25; 95% CI = 0.71-2.21). Moreover, neither polymorphism was significantly associated with age at disease onset, MS Severity Score (MSSS) or MS Progression Index (PI) in any of the inheritance models. In conclusion, our results provide support for a sex- and HLA-DRB1*15:01-independent association of TNFRSF1A rs1800693 SNP with MS susceptibility, but not with age at disease onset, severity or rate of disability accumulation.

Authors+Show Affiliations

Institute of Immunology, Faculty of Medicine, Comenius University in Bratislava, Bratislava, Slovakia.Institute of Immunology, Faculty of Medicine, Comenius University in Bratislava, Bratislava, Slovakia.Institute of Immunology, Faculty of Medicine, Comenius University in Bratislava, Bratislava, Slovakia.Institute of Immunology, Faculty of Medicine, Comenius University in Bratislava, Bratislava, Slovakia.Department of Clinical Biochemistry, Jessenius Faculty of Medicine, Comenius University in Bratislava and University Hospital Martin, Martin, Slovakia.Clinic of Neurology, Jessenius Faculty of Medicine, Comenius University in Bratislava and University Hospital Martin, Martin, Slovakia.1st Department of Neurology, Faculty of Medicine, Comenius University in Bratislava and University Hospital Bratislava, Bratislava, Slovakia.Institute of Immunology, Faculty of Medicine, Comenius University in Bratislava, Bratislava, Slovakia.2nd Department of Neurology, Faculty of Medicine, Comenius University in Bratislava and University Hospital Bratislava, Bratislava, Slovakia.Haematology Outpatient Clinic, University Hospital Bratislava, Bratislava, Slovakia.Institute of Immunology, Faculty of Medicine, Comenius University in Bratislava, Bratislava, Slovakia.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

30009568

Citation

Javor, Juraj, et al. "TNFRSF1A Polymorphisms and Their Role in Multiple Sclerosis Susceptibility and Severity in the Slovak Population." International Journal of Immunogenetics, 2018.
Javor J, Shawkatová I, Ďurmanová V, et al. TNFRSF1A polymorphisms and their role in multiple sclerosis susceptibility and severity in the Slovak population. Int J Immunogenet. 2018.
Javor, J., Shawkatová, I., Ďurmanová, V., Párnická, Z., Čierny, D., Michalik, J., ... Bucová, M. (2018). TNFRSF1A polymorphisms and their role in multiple sclerosis susceptibility and severity in the Slovak population. International Journal of Immunogenetics, doi:10.1111/iji.12388.
Javor J, et al. TNFRSF1A Polymorphisms and Their Role in Multiple Sclerosis Susceptibility and Severity in the Slovak Population. Int J Immunogenet. 2018 Jul 16; PubMed PMID: 30009568.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - TNFRSF1A polymorphisms and their role in multiple sclerosis susceptibility and severity in the Slovak population. AU - Javor,Juraj, AU - Shawkatová,Ivana, AU - Ďurmanová,Vladimíra, AU - Párnická,Zuzana, AU - Čierny,Daniel, AU - Michalik,Jozef, AU - Čopíková-Cudráková,Daniela, AU - Smahová,Barbora, AU - Gmitterová,Karin, AU - Peterajová,Ľubica, AU - Bucová,Mária, Y1 - 2018/07/16/ PY - 2017/12/28/received PY - 2018/04/24/revised PY - 2018/06/13/accepted PY - 2018/7/17/entrez PY - 2018/7/17/pubmed PY - 2018/7/17/medline KW - TNFRSF1A KW - multiple sclerosis KW - polymorphism KW - severity KW - susceptibility JF - International journal of immunogenetics JO - Int. J. Immunogenet. N2 - Tumour necrosis factor (TNF)-mediated signalling plays a key role in inflammatory and neurodegenerative processes leading to the development of multiple sclerosis (MS). Recent studies have highlighted the role of tumour necrosis factor receptor superfamily member 1A (TNFRSF1A) gene encoding the type 1 TNF receptor in the genetic predisposition to MS. This study aimed to validate the association of TNFRSF1A rs1800693 and rs4149584 polymorphisms with susceptibility to MS in the Slovak population and analyse their influence on age at disease onset, severity, and disability progression. Polymerase chain reaction-restriction fragment length polymorphism method was used to genotype both TNFRSF1A polymorphisms in 541 MS patients and 724 healthy controls. Logistic regression analysis revealed a significantly increased risk of developing MS for the carriers of rs1800693 C allele (TC + CC vs. TT: pcorr = 0.005; OR = 1.61; 95% CI = 1.23-2.12), irrespective of sex and carriage of the major MS risk allele HLA-DRB1*15:01. On the other hand, no association could be found between rs4149584 and MS risk (GA + AA vs. GG: pcorr = 1.00; OR = 1.25; 95% CI = 0.71-2.21). Moreover, neither polymorphism was significantly associated with age at disease onset, MS Severity Score (MSSS) or MS Progression Index (PI) in any of the inheritance models. In conclusion, our results provide support for a sex- and HLA-DRB1*15:01-independent association of TNFRSF1A rs1800693 SNP with MS susceptibility, but not with age at disease onset, severity or rate of disability accumulation. SN - 1744-313X UR - https://www.unboundmedicine.com/medline/citation/30009568/TNFRSF1A_polymorphisms_and_their_role_in_multiple_sclerosis_susceptibility_and_severity_in_the_Slovak_population_ L2 - https://doi.org/10.1111/iji.12388 DB - PRIME DP - Unbound Medicine ER -