Autoimmune and immunogenetic profile of patients with optic neuritis in a population-based cohort

Background: Optic neuritis (ON) is an inflammatory optic neuropathy, where the genetic and autoimmune dependency remains poorly characterized. Objective: To investigate autoimmune and immunogenetic aspects of ON. Method: In a prospective population-based cohort 51 patients with ON were included. At...

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Hauptverfasser: Soelberg, Kerstin (VerfasserIn) , Nilsson, A. C. (VerfasserIn) , Nielsen, C. (VerfasserIn) , Jarius, Sven (VerfasserIn) , Reindl, M. (VerfasserIn) , Wildemann, Brigitte (VerfasserIn) , Lillevang, S. T. (VerfasserIn) , Asgari, N. (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 7 March 2018
In: Multiple Sclerosis and Related Disorders
Year: 2018, Jahrgang: 21, Pages: 97-102
ISSN:2211-0356
DOI:10.1016/j.msard.2018.03.003
Online-Zugang:Verlag, Volltext: http://dx.doi.org/10.1016/j.msard.2018.03.003
Verlag, Volltext: http://www.sciencedirect.com/science/article/pii/S2211034818300890
Volltext
Verfasserangaben:K. Soelberg, A.C. Nilsson, C. Nielsen, S. Jarius, M. Reindl, B. Wildemann, S.T. Lillevang, N. Asgari

MARC

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245 1 0 |a Autoimmune and immunogenetic profile of patients with optic neuritis in a population-based cohort  |c K. Soelberg, A.C. Nilsson, C. Nielsen, S. Jarius, M. Reindl, B. Wildemann, S.T. Lillevang, N. Asgari 
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520 |a Background: Optic neuritis (ON) is an inflammatory optic neuropathy, where the genetic and autoimmune dependency remains poorly characterized. Objective: To investigate autoimmune and immunogenetic aspects of ON. Method: In a prospective population-based cohort 51 patients with ON were included. At follow up 20 patients had progressed to multiple sclerosis (MS-ON). All patients were screened for neuronal and systemic autoantibodies. HLA genotypes and allele and genotype frequencies of the PTPN22 C1858T and the PD-1.3 single-nucleotide polymorphisms (SNPs) were determined and compared to a cohort of Danish blood donors, acting as healthy controls. Results: Median follow-up was 366 days (301−430) for MS-ON patients and 375 (range 50-436) for isolated ON (ION). Autoantibodies against myelin oligodendrocyte glycoprotein (MOG-IgG), were positive in two patients, no patients had anti-aquaporin-4 antibodies. Coexisting neural autoantibodies were detected in two patients and in 12 patients other systemic autoantibodies were found. Four (8%) had other autoimmune disorders. A family history of autoimmunity was observed in 12 (24%) and of demyelinating disease in six patients (12%). In MS-ON patients the frequencies of HLA-DQB1*06:02 and HLA-DRB1*15:01 tended to be higher compared to controls (p=0.08). Stratification of patients with presence of oligoclonal bands (OCB) showed an association to the HLA-DQB1*06:02-HLA-DRB1*15:01 haplotype in ION (HLA-DQB1*06:02 and HLA-DRB1*15:01 (p=0.03)), and in MS-ON patients (HLA-DQB1*06:02 and HLA-DRB1*15:01 (p=0.03)). No significant associations to PTPN22 1858C/T or PD-1.3G/A were found in any group comparison. Conclusions: ON patients had a general susceptibility to autoimmunity and two were MOG-IgG positive. HLA-DQB1*06:02 and HLA-DRB1*15:01 were associated with the presence of OCB in ON patients. 
650 4 |a Genetics 
650 4 |a Immunology 
650 4 |a Multiple sclerosis 
650 4 |a Optic neuritis 
700 1 |a Nilsson, A. C.  |e VerfasserIn  |4 aut 
700 1 |a Nielsen, C.  |e VerfasserIn  |4 aut 
700 1 |a Jarius, Sven  |e VerfasserIn  |0 (DE-588)1054615918  |0 (DE-627)791654818  |0 (DE-576)410367478  |4 aut 
700 1 |a Reindl, M.  |e VerfasserIn  |4 aut 
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700 1 |a Lillevang, S. T.  |e VerfasserIn  |4 aut 
700 1 |a Asgari, N.  |e VerfasserIn  |4 aut 
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