Neuromyelitis optica is an HLA associated disease different from Multiple Sclerosis: a systematic review with meta-analysis

Alvarenga, Marcos Papais; Carmo, Luciana Ferreira do; Vasconcelos, Cláudia Cristina Ferreira; Alvarenga-Filho, Hélcio; Bento, Cleonice Alves de Melo; Paiva, Cláudia N.; Leyva, Laura; Fernández, Óscar; Papais-Alvarenga, Regina María

doi:10.1038/s41598-020-80535-3

Cited by 24 publications

(12 citation statements)

References 68 publications

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“…The HLA-DRB1*03 allele frequency is increased in classical AID, including diabetes mellitus type 1 33,34 , multiple sclerosis 41 , neuromyelitis optica 42 , systemic lupus erythematosus 43 , Graves' disease 44 and Sjögren's syndrome 35 , but we observed no association across IgG4-AID, only a decrease in studies on pemphigus. A similar difference could be found for HLA-DRB1*04, which is increased in classical AID diabetes mellitus type 1, rheumatoid arthritis and autoimmune hepatitis patients 38,45 , but decreased in IgG4-AID (MuSK, TTP and CIDP) -with the exception of pemphigus where a strong association was observed.…”

Section: Comparison Of Hla Associations Between Classical and Igg4 Autoimmune Diseasescontrasting

confidence: 68%

A Systematic Review and Meta-Analysis of HLA-Class-II Associations in Patients with IgG4 Autoimmunity

Panhuber

Lamorte

Bruno

et al. 2021

Preprint

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Autoimmune diseases caused by pathogenic IgG4 subclass autoantibodies (IgG4-AID) include diseases like MuSK myasthenia gravis, pemphigus vulgaris or thrombotic thrombocytopenic purpura. Their etiology is still unknown. Polymorphisms in the human leukocyte antigen (HLA) gene locus, particularly in HLA-DRB1, are known genetic susceptibility factors for autoimmune diseases. We hypothesized a similar role for HLA polymorphisms in IgG4-AID and conducted a systematic review and meta-analysis with case-control studies on IgG4-AID based on MOOSE/ HuGENet guidelines. Genotype (G) and allele (A) frequencies of HLA-DQB1*05 (G: OR 3.8; 95% CI 2.44-5.9; p < 0.00001; A: OR 2.54; 95% CI 1.82-3.55; p < 0.00001) and HLA-DRB1*14 (G: OR 4.31; 95% CI 2.82-6.59; p < 0.00001; A: OR 4.78; 95% CI 3.52-6.49; p < 0.00001) and the HLA-DRB1*14-DQB1*05 haplotype (OR 6.3; 95% CI 3.28-12.09; p < 0.00001 / OR 4.98; 95% CI 3.8-6.53; p < 0.00001) were increased while HLA-DRB1*13 (G: OR 0.48; 95% CI 0.34-0.68; p < 0.0001; A: OR 0.46; 95% CI 0.34-0.62; p < 0.00001) was decreased in IgG4-AID patients. In conclusion, the HLA-DQB1*05, HLA-DRB1*14 alleles and the HLA-DQB1*05-DRB1*14 haplotype could be genetic risk factors that predispose for the production of pathogenic IgG4 autoantibodies and the HLA-DRB1*13 allele may protect from IgG4 autoimmunity.

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Section: Comparison Of Hla Associations Between Classical and Igg4 Autoimmune Diseasescontrasting

confidence: 68%

A Systematic Review and Meta-Analysis of HLA-Class-II Associations in Patients with IgG4 Autoimmunity

Panhuber

Lamorte

Bruno

et al. 2021

Preprint

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“…The HLA-DRB1*03 allele frequency is increased in classical AID, including diabetes mellitus type 1 (36,37), multiple sclerosis (44), neuromyelitis optica (45), systemic lupus erythematosus (46), Graves' disease (47) and Sjögren's syndrome (38), but we observed no association across IgG4-AID, only a decrease in studies on pemphigus. A similar difference could be found for HLA-DRB1*04, which is increased in classical AID diabetes mellitus type 1, rheumatoid arthritis and autoimmune hepatitis patients (41,48), but decreased in IgG4-AID (MuSK, TTP and CIDP) -with the exception of pemphigus where a strong association was observed.…”

Section: Comparison Of Hla Associations Between Classical and Igg4 Autoimmune Diseasescontrasting

confidence: 64%

“…), neuromyelitis optica(45), systemic lupus erythematosus(46), Graves' disease(47) and Sjögren's syndrome(38), but we observed no association across IgG4-AID, only a decrease in studies on pemphigus. A similar difference could be found for HLA-DRB1*04, which is increased in classical AID diabetes mellitus type 1, rheumatoid arthritis and autoimmune hepatitis patients(41,48), but decreased in IgG4-AID (MuSK, TTP and CIDP) -with the exception of pemphigus where a strong association was observed.4.3 HLA polymorphisms and the etiology of autoimmunityAutoimmune diseases are thought to have a multifactorial etiology with a cumulative effect of genetic predispositions and environmental triggers.…”

contrasting

confidence: 66%

Genetic risk factors for pathogenic IgG4 autoantibodies: a systematic review and meta-analysis of HLA class II associations in patients with IgG4 autoimmune diseases

Panhuber

Lamorte

Bruno

et al. 2021

Preprint

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Autoimmune diseases caused by pathogenic IgG4 subclass autoantibodies (IgG4-AID) include diseases like MuSK myasthenia gravis, pemphigus vulgaris or thrombotic thrombocytopenic purpura. Their etiology is still unknown. Polymorphisms in the human leukocyte antigen (HLA) gene locus, particularly in HLA-DRB1, are known genetic susceptibility factors for autoimmune diseases. We hypothesized a similar role for HLA polymorphisms in IgG4-AID and conducted a systematic review and meta-analysis with case-control studies on IgG4-AID based on MOOSE and HuGENet guidelines. Genotype (G) and allele (A) frequencies of HLA-DQB1*05 (G: OR 3.8; 95% CI 2.44-5.9; p < 0.00001; A: OR 2.54; 95% CI 1.82-3.55; p < 0.00001) and HLA-DRB1*14 (G: OR 4.31; 95% CI 2.82-6.59; p < 0.00001; A: OR 4.78; 95% CI 3.52-6.49; p < 0.00001) and the HLA-DRB1*14-DQB1*05 haplotype (OR 6.3; 95% CI 3.28-12.09; p < 0.00001 / OR 4.98; 95% CI 3.8-6.53; p < 0.00001) were increased while HLA-DRB1*13 (G: OR 0.48; 95% CI 0.34-0.68; p < 0.0001; A: OR 0.46; 95% CI 0.34-0.62; p < 0.00001) was decreased in IgG4-AID patients. In conclusion, the HLA-DQB1*05 , HLA-DRB1*14 alleles and the HLA-DQB1*05-DRB1*14 haplotype could be genetic risk factors that predispose for the production of pathogenic IgG4 autoantibodies and the HLA-DRB1*13 allele may protect from IgG4 autoimmunity.

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“…Japanese and Chinese share the same HLA risk genes for NMOSD, namely HLA-DPB1*05:01 and HLA-DRB1*16:02 (Matsushita et al, 2009). Latin American studies (Alonso et al, 2018;Papais-Alvarenga, et al, 2021) disclose HLA-DRB1*03:01 and HLA-DRB1*10 alleles as a significant genetic association with NMOSD. Latin American studies have shown 80%-82.7% of the patients were women (Alonso et al, 2018;Soto de Castillo et al, 2020, Uribe-San Martin et al, 2017.…”

Section: Discussionmentioning

confidence: 99%

Status of the neuromyelitis optica spectrum disorder in Latin America

Rivera

Hamuy²,

Rivas

et al. 2021

Multiple Sclerosis and Related Disorders

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Background: Neuromyelitis optica spectrum disorders (NMOSD) is an increasing diagnostic and therapeutic challenge in Latin America (LATAM). Despite the heterogeneity of this population, ethnic and socioeconomic commonalities exist, and epidemiologic studies from the region have had a limited geographic and population outreach. Identification of some aspects from the entire region are lacking. Objectives: To determine ethnic, clinical characteristics, and utilization of diagnostic tools and types of therapy for patients with NMOSD in the entire Latin American region. Methods: The Latin American Committee for Treatment and Research in MS (LACTRIMS) created an exploratory investigational survey addressed by Invitation to NMOSD Latin American experts identified through diverse sources. Data input closed after 30 days from the initial invitation. The questionnaire allowed use of absolute numbers or percentages. Multiple option responses covering 25 themes included definition of type of practice; number of NMOSD cases; ethnicity; utilization of the 2015 International Panel criteria for the diagnosis of Neuromyelitis optica (IPDN); clinical phenotypes; methodology utilized for determination of anti-Aquaporin-4 (anti-AQP4) antibodies serological testing, and if this was performed locally or processed abroad; treatment of relapses, and long-term management were surveyed. Results: We identified 62 investigators from 21 countries reporting information from 2154 patients (utilizing the IPDN criteria in 93.9% of cases), which were categorized in two geographical regions: North-Central, including the Caribbean (NCC), and South America (SA). Ethnic identification disclosed Mestizos 61.4% as the main group. The most common presenting symptoms were concomitant presence of optic neuritis and transverse myelitis in 31.8% (p=0.95); only optic neuritis in 31.4% (more common in SA), p<0.001); involvement of the area postrema occurred in 21.5% and brain stem in 8.3%, both were more frequent in the South American cases (p<0.001). Anti-AQP4 antibodies were positive in 63.9% and anti-Myelin Oligodendrocyte Glycoprotein (MOG) antibodies in 4.8% of total cases. The specific laboratorial method employed was not known by 23.8% of the investigators. Acute relapses were identified in 81.6% of cases, and were treated in 93.9% of them with intravenous steroids (IVS); 62.1% with plasma exchange (PE), and 40.9% with intravenous immunoglobulin-G (IVIG). Therapy was escalated in some cases due to suboptimal initial response. Respondents favored Rituximab as long-term therapy (86.3%), whereas azathioprine was also utilized on 81.8% of the cases, either agent used indistinctly by the investigators according to treatment accessibility or clinical judgement. There were no differences among the geographic regions. Conclusions: This is the first study including all countries of LATAM and the largest cohort reported from a multinational specific world area. Ethnic distributions and phenotypic features of the disease in the region, challenges in access to di...

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Neuromyelitis optica is an HLA associated disease different from Multiple Sclerosis: a systematic review with meta-analysis

Cited by 24 publications

References 68 publications

A Systematic Review and Meta-Analysis of HLA-Class-II Associations in Patients with IgG4 Autoimmunity

A Systematic Review and Meta-Analysis of HLA-Class-II Associations in Patients with IgG4 Autoimmunity

Genetic risk factors for pathogenic IgG4 autoantibodies: a systematic review and meta-analysis of HLA class II associations in patients with IgG4 autoimmune diseases

Status of the neuromyelitis optica spectrum disorder in Latin America

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