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*

*Kontaktforfatter for dette arbejde

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Resumé

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.

OriginalsprogEngelsk
TidsskriftMultiple Sclerosis and Related Disorders
Vol/bind21
Sider (fra-til)97-102
ISSN2211-0348
DOI
StatusUdgivet - apr. 2018

Fingeraftryk

Immunogenetics
Optic Neuritis
HLA-DRB1 Chains
Population
Oligoclonal Bands
Autoimmunity
Optic Nerve Diseases
Demyelinating Diseases
Haplotypes

Citer dette

@article{0a8a1900a9074b5ebbbde977cd09fcae,
title = "Autoimmune and immunogenetic profile of patients with optic neuritis in a population-based cohort",
abstract = "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.",
keywords = "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",
author = "K. Soelberg and Nilsson, {A. C.} and C. Nielsen and S. Jarius and M. Reindl and B. Wildemann and Lillevang, {S. T.} and N. Asgari",
year = "2018",
month = "4",
doi = "10.1016/j.msard.2018.03.003",
language = "English",
volume = "21",
pages = "97--102",
journal = "Multiple Sclerosis and Related Disorders",
issn = "2211-0348",
publisher = "Elsevier",

}

Autoimmune and immunogenetic profile of patients with optic neuritis in a population-based cohort. / Soelberg, K.; Nilsson, A. C.; Nielsen, C.; Jarius, S.; Reindl, M.; Wildemann, B.; Lillevang, S. T.; Asgari, N.

I: Multiple Sclerosis and Related Disorders, Bind 21, 04.2018, s. 97-102.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - Autoimmune and immunogenetic profile of patients with optic neuritis in a population-based cohort

AU - Soelberg, K.

AU - Nilsson, A. C.

AU - Nielsen, C.

AU - Jarius, S.

AU - Reindl, M.

AU - Wildemann, B.

AU - Lillevang, S. T.

AU - Asgari, N.

PY - 2018/4

Y1 - 2018/4

N2 - 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.

AB - 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.

KW - Genetics

KW - Immunology

KW - Multiple sclerosis

KW - Optic neuritis

KW - Protein Tyrosine Phosphatase, Non-Receptor Type 22/genetics

KW - Prospective Studies

KW - Follow-Up Studies

KW - Humans

KW - Middle Aged

KW - Male

KW - Multiple Sclerosis/genetics

KW - Aquaporin 4/immunology

KW - Young Adult

KW - HLA-DRB1 Chains/genetics

KW - Adult

KW - Female

KW - Autoimmunity/genetics

KW - Immunoglobulin G/metabolism

KW - Myelin-Oligodendrocyte Glycoprotein/immunology

KW - Genetic Association Studies

KW - Immunogenetic Phenomena

KW - Disease Progression

KW - Adolescent

KW - Optic Neuritis/genetics

KW - Aged

KW - Autoantibodies/metabolism

KW - HLA-DQ beta-Chains/genetics

U2 - 10.1016/j.msard.2018.03.003

DO - 10.1016/j.msard.2018.03.003

M3 - Journal article

VL - 21

SP - 97

EP - 102

JO - Multiple Sclerosis and Related Disorders

JF - Multiple Sclerosis and Related Disorders

SN - 2211-0348

ER -