RGD Reference Report - HLA, PTPN22 and PD-1 associations as markers of autoimmunity in neuromyelitis optica. - Rat Genome Database

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HLA, PTPN22 and PD-1 associations as markers of autoimmunity in neuromyelitis optica.

Authors: Asgari, N  Nielsen, C  Stenager, E  Kyvik, KO  Lillevang, ST 
Citation: Asgari N, etal., Mult Scler. 2012 Jan;18(1):23-30. doi: 10.1177/1352458511417480. Epub 2011 Sep 9.
RGD ID: 7421588
Pubmed: PMID:21908482   (View Abstract at PubMed)
DOI: DOI:10.1177/1352458511417480   (Journal Full-text)

BACKGROUND: Neuromyelitis optica (NMO) is a disease with autoimmune characteristics. A genetic autoimmune dependency for NMO has not been clarified in detail. OBJECTIVE: To investigate immunogenetic aspects of NMO. METHODS: Forty-one patients with NMO and 42 patients with multiple sclerosis (MS) were diagnosed in a population-based Caucasian cohort. HLA DQA1, DQB1, and DRB1 alleles were determined. Polymorphisms in programmed death 1 (PD-1) PD-1.3 G/A and protein tyrosine phosphatase non-receptor 22 (PTPN22) 1858 C/T were genotyped. RESULTS: In the NMO group 15% had other autoimmune disorders and 39% had family occurrence of autoimmunity, comparable to MS. A higher frequency of a family history (17%) of NMO and MS was found in the NMO group (p < 0.026). The frequency of HLA-DQB1*0402 allele was increased in NMO (p after Bonferroni correction, cp < 0.035) and the HLA-DRB1*15 and DQB1*06 alleles were increased in MS (cp < 0.0027, cp < 0.01), compared to controls. No associations of the PTPN22 1858 T were detected. The PD-1.3A allele was increased both in NMO (p < 0.0023) and in MS patients (p < 0.028) compared to controls. CONCLUSION: Patients with NMO had frequent co-existence of autoimmunity and family occurrence of NMO and MS. The PD-1.3A allele was associated with NMO. The data suggest genetic autoimmune dependency of NMO.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
H2-Ab1Mousemultiple sclerosis susceptibilityISOHLA-DQB1 (Homo sapiens)DNA:polymorphism:cds:HLA-DQB1*06 (human)RGD 
HLA-DQB1Humanmultiple sclerosis susceptibilityIAGP DNA:polymorphism:cds:HLA-DQB1*06 (human)RGD 
RT1-BbRatmultiple sclerosis susceptibilityISOHLA-DQB1 (Homo sapiens)DNA:polymorphism:cds:HLA-DQB1*06 (human)RGD 
H2-Ab1Mouseneuromyelitis optica susceptibilityISOHLA-DQB1 (Homo sapiens)DNA:polymorphism:cds:HLA-DQB1*0402 (human)RGD 
HLA-DQB1Humanneuromyelitis optica susceptibilityIAGP DNA:polymorphism:cds:HLA-DQB1*0402 (human)RGD 
RT1-BbRatneuromyelitis optica susceptibilityISOHLA-DQB1 (Homo sapiens)DNA:polymorphism:cds:HLA-DQB1*0402 (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
HLA-DQB1HumanAbnormal cerebrospinal fluid morphology susceptibilityIAGP DNA:polymorphism:cds:HLA-DQB1*06RGD 
HLA-DQB1HumanAbnormal nervous system physiology susceptibilityIAGP DNA:polymorphism:cds:HLA-DQB1*06RGD 
HLA-DQB1HumanAutoimmune antibody positivity susceptibilityIAGP DNA:polymorphism:cds:HLA-DQB1*0402RGD 
HLA-DQB1HumanMorphological central nervous system abnormality susceptibilityIAGP DNA:polymorphism:cds:HLA-DQB1*06RGD 
HLA-DQB1HumanOptic neuritis susceptibilityIAGP DNA:polymorphism:cds:HLA-DQB1*0402RGD 
Objects Annotated

Genes (Rattus norvegicus)
RT1-Bb  (RT1 class II, locus Bb)

Genes (Mus musculus)
H2-Ab1  (histocompatibility 2, class II antigen A, beta 1)

Genes (Homo sapiens)
HLA-DQB1  (major histocompatibility complex, class II, DQ beta 1)


Additional Information