The HLA DRB1*03:01 allele is associated with NMO regardless of the NMO-IgG status in Brazilian patients from Rio de Janeiro

Fernández, Óscar; Leyva, Laura; Campanella, L.; Vasconcelos, Claudia; Alvarenga, Marcos Papais; Alvarenga, Regina Maria Papais

doi:10.1016/j.jneuroim.2017.05.018

Cited by 25 publications

(34 citation statements)

References 24 publications

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“…In our patients, the DRB1*03:01 was more frequent than in the control group, which was similar to the southeastern Brazilian, Chinese and Japanese studies but different to the Muslim Arabs in Israel study (Figure 3) 9,15,18,20,21,22 . The difference in frequency of the DRB1*04:05 allele showed a positive correlation (increased susceptibility) in our study; however, previous studies in Asian populations revealed a negative correlation (decreased susceptibility) in NMO patients (Figure 3) 9,15,18,20 .…”

Section: Discussionsupporting

confidence: 85%

“…To date, there have been only three studies performed with Brazilian patients, who had a different ethnic background when compared with southern Brazil because the recruited patients were from southeastern Brazil 11,12,21 . The first Brazilian study showed that the most frequent HLA class II allele was the DRB1*03 allele in mulatto-designated NMO patients 11 .…”

Section: Discussionmentioning

confidence: 99%

“…Although the HLA system has been studied in multiple sclerosis since the early 1970s, few studies have described the HLA system in NMO 6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22 . Several studies have associated specific HLA class II alleles with susceptibility to NMO 8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23 . Recent studies have shown a relationship between NMO and HLA class II, particularly for the DPB1*05:01, DRB1*03 and DRB1*16:02 alleles 7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22 .…”

mentioning

confidence: 99%

“…Several studies have associated specific HLA class II alleles with susceptibility to NMO 8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23 . Recent studies have shown a relationship between NMO and HLA class II, particularly for the DPB1*05:01, DRB1*03 and DRB1*16:02 alleles 7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22 . However, HLA class I alleles have only rarely been studied in NMO 10 .…”

mentioning

confidence: 99%

“…In Brazilian NMO patients, to the best of our knowledge, only three studies in Brazil have analyzed HLA class II alleles, and HLA class I alleles have not yet been studied 10, 11,12,21 .…”

mentioning

confidence: 99%

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HLA-alleles class I and II associated with genetic susceptibility to neuromyelitis optica in Brazilian patients

Kay

Scola

Arndt

et al. 2019

Arq. Neuro-Psiquiatr.

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Neuromyelitis optica (NMO) is an inflammatory disease of the central nervous system that has been considered a "channelopathy", primarily following the description of a specific IgG antibody against the aquaporin-4 channel (AQP4) 1 . In addition, ABSTRACTObjective: To study the genetic susceptibility to neuromyelitis optica (NMO) as well as the relationship between HLA genotypes and susceptibility to the disease in the southern Brazilian population. Methods: We analyzed patients with NMO, who met criteria for Wingerchuk's diagnosis of NMO, with detected serum anti-AQP4-IgG antibody. The HLA genotyping was performed by high-resolution techniques (Sanger sequencing) in patients and controls. The HLA genotypes were statistically compared with a paired control population. Results: The HLA genotyping revealed the diversity of the southern Brazilian population whose HLA profile resembled European and Asian populations. Some alleles had statistical correlations with a positive association (increased susceptibility) with NMO, particularly the HLA-DRB1RESUMO Objetivo: Estudar a suscetibilidade genética a neuromielite óptica (NMO) assim como sua relação com o genótipo HLA na população do sul do Brasil. Métodos: Nós analisamos pacientes com NMO que preenchiam os critérios diagnósticos de Wingerchuk para NMO, com presença do anticorpo anti-AQP4-IgG no soro. O genótipo HLA foi realizado usando técnicas de alta resolução (sequenciamento de Sanger) em pacientes e controles. Genótipos HLA foram estatisticamente comparados com uma população controle pareada. Resultados: Genotipagem HLA revelou a diversidade da população sul brasileira cujo perfil HLA lembra as populações europeia e asiática. Alguns alelos tiveram correlação estatística com associação positiva (suscetibilidade aumentada) com NMO, particularmente o HLA-DRB1*04:05 e *16:02. Conclusões: Em nosso estudo, o genótipo HLA foi diferente do previamente relatado em outras populações brasileiras. Embora o número de pacientes tenha sido pequeno, HLA específicos foram associados com suscetibilidade aumentada a NMO para HLA-DRB1

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Section: Discussionsupporting

confidence: 85%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

“…In Brazilian NMO patients, to the best of our knowledge, only three studies in Brazil have analyzed HLA class II alleles, and HLA class I alleles have not yet been studied 10, 11,12,21 .…”

mentioning

confidence: 99%

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HLA-alleles class I and II associated with genetic susceptibility to neuromyelitis optica in Brazilian patients

Kay

Scola

Arndt

et al. 2019

Arq. Neuro-Psiquiatr.

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Pediatric Neuromyelitis Optica Spectrum Disorders

Gombolay

Chitnis

2018

Curr Treat Options Neurol

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The aquaporin-4 antibody (AQP4 ab) is specific for NMOSD; however, recently another antibody, the myelin oligodendrocyte glycoprotein (MOG ab) has been found in a subset of AQP4 ab-negative patients including in children. Most treatment studies are reported in adults, but retrospective studies on efficacy and safety of mycophenolate mofetil, azathioprine, and rituximab in pediatric NMOSD are available. While some pediatric NMOSD-specific treatment studies are available, more research is needed in the mechanisms of early onset and specific treatment options in children, including whether different treatment considerations are needed for AQP4 ab as opposed to MOG ab-positive disease.

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