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

K. Soelberg, A. C. Nilsson, C. Nielsen, S. Jarius, M. Reindl, B. Wildemann, S. T. Lillevang, N. Asgari*

*Corresponding author for this work

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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-1.3 G/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.

Original languageEnglish
JournalMultiple Sclerosis and Related Disorders
Pages (from-to)97-102
Publication statusPublished - Apr 2018


  • Genetics
  • Immunology
  • Multiple sclerosis
  • Optic neuritis
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22/genetics
  • Prospective Studies
  • Follow-Up Studies
  • Humans
  • Middle Aged
  • Male
  • Multiple Sclerosis/genetics
  • Aquaporin 4/immunology
  • Young Adult
  • HLA-DRB1 Chains/genetics
  • Adult
  • Female
  • Autoimmunity/genetics
  • Immunoglobulin G/metabolism
  • Myelin-Oligodendrocyte Glycoprotein/immunology
  • Genetic Association Studies
  • Immunogenetic Phenomena
  • Disease Progression
  • Adolescent
  • Optic Neuritis/genetics
  • Aged
  • Autoantibodies/metabolism
  • HLA-DQ beta-Chains/genetics

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