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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| Main Authors: | , , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
7 March 2018
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| In: |
Multiple Sclerosis and Related Disorders
Year: 2018, Volume: 21, Pages: 97-102 |
| ISSN: | 2211-0356 |
| DOI: | 10.1016/j.msard.2018.03.003 |
| Online Access: | Verlag, Volltext: http://dx.doi.org/10.1016/j.msard.2018.03.003 Verlag, Volltext: http://www.sciencedirect.com/science/article/pii/S2211034818300890 
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| Author Notes: | K. Soelberg, A.C. Nilsson, C. Nielsen, S. Jarius, M. Reindl, B. Wildemann, S.T. Lillevang, N. Asgari |
| Summary: | 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. |
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| Item Description: | Gesehen am 18.12.2019 |
| Physical Description: | Online Resource |
| ISSN: | 2211-0356 |
| DOI: | 10.1016/j.msard.2018.03.003 |