Genetics of Myasthenia Gravis: A Case-Control Association Study in the Hellenic Population
Myasthenia gravis (MG) is an heterogeneous autoimmune disease characterized by the production of autoantibodies against proteins of the postsynaptic membrane, in the neuromuscular junction. The contribution of genetic factors to MG susceptibility has been evaluated through family and twin studies ho...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2012-01-01
|
| Series: | Clinical and Developmental Immunology |
| Online Access: | http://dx.doi.org/10.1155/2012/484919 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832548876561678336 |
|---|---|
| author | Zoi Zagoriti Marianthi Georgitsi Olga Giannakopoulou Fotios Ntellos Socrates J. Tzartos George P. Patrinos Konstantinos Poulas |
| author_facet | Zoi Zagoriti Marianthi Georgitsi Olga Giannakopoulou Fotios Ntellos Socrates J. Tzartos George P. Patrinos Konstantinos Poulas |
| author_sort | Zoi Zagoriti |
| collection | DOAJ |
| description | Myasthenia gravis (MG) is an heterogeneous autoimmune disease characterized by the production of autoantibodies against proteins of the postsynaptic membrane, in the neuromuscular junction. The contribution of genetic factors to MG susceptibility has been evaluated through family and twin studies however, the precise genetic background of the disease remains elusive. We conducted a case-control association study in 101 unrelated MG patients of Hellenic origin and 101 healthy volunteers in order to assess the involvement of common genetic variants in susceptibility to MG. We focused on three candidate genes which have been clearly associated with several autoimmune diseases, aiming to investigate their potential implication in MG pathogenesis. These are interferon regulatory factor 5 (IRF-5), TNFα-induced protein 3 (TNFAIP3), also known as A20, and interleukin-10 (IL-10), key molecules in the regulation of immune function. A statistical trend of association (P=0.068) between IL-10 promoter single nucleotide polymorphisms (SNPs) and the subgroups of early and late-onset MG patients was revealed. No statistically significant differences were observed in the rest of the variants examined. As far as we are aware, this is the first worldwide attempt to address the possible association between IRF-5 and TNFAIP3 common genetic variants and the genetic basis of MG. |
| format | Article |
| id | doaj-art-344b5988d6d64a42bda2ecdbb8cee4da |
| institution | Kabale University |
| issn | 1740-2522 1740-2530 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical and Developmental Immunology |
| spelling | doaj-art-344b5988d6d64a42bda2ecdbb8cee4da2025-02-03T06:12:41ZengWileyClinical and Developmental Immunology1740-25221740-25302012-01-01201210.1155/2012/484919484919Genetics of Myasthenia Gravis: A Case-Control Association Study in the Hellenic PopulationZoi Zagoriti0Marianthi Georgitsi1Olga Giannakopoulou2Fotios Ntellos3Socrates J. Tzartos4George P. Patrinos5Konstantinos Poulas6Laboratory of Molecular Biology and Immunology, Department of Pharmacy, School of Health Sciences, University of Patras, Rion, 26504 Patras, GreeceLaboratory of Molecular Biology and Immunology, Department of Pharmacy, School of Health Sciences, University of Patras, Rion, 26504 Patras, GreeceLaboratory of Molecular Biology and Immunology, Department of Pharmacy, School of Health Sciences, University of Patras, Rion, 26504 Patras, GreeceLaboratory of Molecular Biology and Immunology, Department of Pharmacy, School of Health Sciences, University of Patras, Rion, 26504 Patras, GreeceLaboratory of Molecular Biology and Immunology, Department of Pharmacy, School of Health Sciences, University of Patras, Rion, 26504 Patras, GreeceLaboratory of Molecular Biology and Immunology, Department of Pharmacy, School of Health Sciences, University of Patras, Rion, 26504 Patras, GreeceLaboratory of Molecular Biology and Immunology, Department of Pharmacy, School of Health Sciences, University of Patras, Rion, 26504 Patras, GreeceMyasthenia gravis (MG) is an heterogeneous autoimmune disease characterized by the production of autoantibodies against proteins of the postsynaptic membrane, in the neuromuscular junction. The contribution of genetic factors to MG susceptibility has been evaluated through family and twin studies however, the precise genetic background of the disease remains elusive. We conducted a case-control association study in 101 unrelated MG patients of Hellenic origin and 101 healthy volunteers in order to assess the involvement of common genetic variants in susceptibility to MG. We focused on three candidate genes which have been clearly associated with several autoimmune diseases, aiming to investigate their potential implication in MG pathogenesis. These are interferon regulatory factor 5 (IRF-5), TNFα-induced protein 3 (TNFAIP3), also known as A20, and interleukin-10 (IL-10), key molecules in the regulation of immune function. A statistical trend of association (P=0.068) between IL-10 promoter single nucleotide polymorphisms (SNPs) and the subgroups of early and late-onset MG patients was revealed. No statistically significant differences were observed in the rest of the variants examined. As far as we are aware, this is the first worldwide attempt to address the possible association between IRF-5 and TNFAIP3 common genetic variants and the genetic basis of MG.http://dx.doi.org/10.1155/2012/484919 |
| spellingShingle | Zoi Zagoriti Marianthi Georgitsi Olga Giannakopoulou Fotios Ntellos Socrates J. Tzartos George P. Patrinos Konstantinos Poulas Genetics of Myasthenia Gravis: A Case-Control Association Study in the Hellenic Population Clinical and Developmental Immunology |
| title | Genetics of Myasthenia Gravis: A Case-Control Association Study in the Hellenic Population |
| title_full | Genetics of Myasthenia Gravis: A Case-Control Association Study in the Hellenic Population |
| title_fullStr | Genetics of Myasthenia Gravis: A Case-Control Association Study in the Hellenic Population |
| title_full_unstemmed | Genetics of Myasthenia Gravis: A Case-Control Association Study in the Hellenic Population |
| title_short | Genetics of Myasthenia Gravis: A Case-Control Association Study in the Hellenic Population |
| title_sort | genetics of myasthenia gravis a case control association study in the hellenic population |
| url | http://dx.doi.org/10.1155/2012/484919 |
| work_keys_str_mv | AT zoizagoriti geneticsofmyastheniagravisacasecontrolassociationstudyinthehellenicpopulation AT marianthigeorgitsi geneticsofmyastheniagravisacasecontrolassociationstudyinthehellenicpopulation AT olgagiannakopoulou geneticsofmyastheniagravisacasecontrolassociationstudyinthehellenicpopulation AT fotiosntellos geneticsofmyastheniagravisacasecontrolassociationstudyinthehellenicpopulation AT socratesjtzartos geneticsofmyastheniagravisacasecontrolassociationstudyinthehellenicpopulation AT georgeppatrinos geneticsofmyastheniagravisacasecontrolassociationstudyinthehellenicpopulation AT konstantinospoulas geneticsofmyastheniagravisacasecontrolassociationstudyinthehellenicpopulation |