Association of HLA-A*02:06 and HLA-DRB1*04:05 with clinical subtypes of juvenile idiopathic arthritis

Yanagimachi, Masakatsu; Miyamae, Takako; Naruto, Takuya; Hara, Takuma; Kikuchi, Masako; Hara, Ryoki; Imagawa, Tomoyuki; Mori, Masaaki; Kaneko, Tetsuji; Goto, Hiroaki; Morita, Satoshi; Mizuki, Nobuhisa; Kimura, Akinori; Yokota, Shumpei

doi:10.1038/jhg.2010.159

Cited by 23 publications

(18 citation statements)

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“…Similarly, an association between HLA-SE and susceptibility to JIA has been reported in Caucasians [ 8 ]. We have previously reported that HLA-DRB1*04:05, a major SE-containing allele, is associated with polyarticular JIA also in the Japanese population [ 9 ].…”

Section: Introductionmentioning

confidence: 99%

PADI4 and the HLA-DRB1 shared epitope in juvenile idiopathic arthritis

Hisa¹,

Yanagimachi²,

Naruto³

et al. 2017

PLoS ONE

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ObjectiveBoth genetic and environmental factors are associated with susceptibility to juvenile idiopathic arthritis (JIA). Many studies have reported that both a ‘shared epitope’ (SE) encoded by several HLA-DRB1 alleles and the peptidyl arginine deiminase type 4 (PADI4) gene polymorphisms are associated with susceptibility to rheumatoid arthritis (RA). However, it is uncertain whether JIA and RA share the latter genetic risk factor. Therefore, here we investigated relationships between HLA-SE and PADI4 polymorphisms with clinical subtypes of JIA.MethodsJIA patients (39 oligoarthritis, 48 RF-positive polyarthritis, 19 RF-negative polyarthritis and 82 systemic) and 188 healthy controls were genotyped for HLA-DRB1 by PCR-sequence-specific oligonucleotide probe methodology. Three PADI4 gene single nucleotide polymorphisms (SNPs), rs2240340, rs2240337 and rs1748033, were genotyped using TaqMan SNP Genotyping Assays.ResultsFrequencies of the HLA-SE were higher in RF-positive polyarticular JIA than in healthy controls. RF-positive polyarticular JIA was associated with HLA-SE (OR = 5.3, 95% CI = 2.5–11.9, pc < 0.001). No associations were found between clinical subtypes of JIA and PADI4 allele frequency. Nonetheless, rs2240337 in the PADI4 gene was significantly associated with anti-cyclic citrullinated peptide antibody (ACPA)-positivity in JIA. The A allele at rs2240337 was a significant risk factor for ACPA positivity in JIA (OR = 5.6, 95% CI = 1.71–23.7 pc = 0.03).ConclusionPADI4 gene polymorphism is associated with ACPA-positivity in JIA. The association of HLA-SE with RF-positive polyarticular JIA as well as RA is confirmed in Japanese. Thus, HLA-SE and PADI4 status both influence JIA clinical manifestations.

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Section: Introductionmentioning

confidence: 99%

PADI4 and the HLA-DRB1 shared epitope in juvenile idiopathic arthritis

Hisa¹,

Yanagimachi²,

Naruto³

et al. 2017

PLoS ONE

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“…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 . This same allele was associated with other autoimmune diseases in Asian populations 30,31 . In addition, a positive relationship of the allele *16:02 was found in our study, which was similar to others studies in Asian populations ( Figure 3) 9,15,18 .…”

Section: Discussionmentioning

confidence: 73%

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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“…It was proven that the presence of this allele is combined with multibacillary leprosy patients in Indian population [46]. The connection between A * 02:06 and juvenile idiopathic arthritis was also stated [47]. The presented analysis did not allow the complete validation of the proposed models.…”

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confidence: 89%

Relationship between Tregitopes Structure and Binding with Major Histocompatibility Complex Class I

Okoniewska¹,

Okoniewski²,

Grabowski

2015

Drug Res (Stuttg)

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Epitopes of T-cells (tregitopes) are linear sequences of amino acids present in many animal and human proteins. Tregitopes suppress the immunological response and could play a significant regulatory role in the pathogenesis of autoimmune diseases. They modulate T-cell response activated by the antigens of the major histocompatibility complex class I (MHC-I).The aim of this study was an attempt to determine the correlation between physicochemical properties and structures of tregitopes and their binding strength with MHC-I. 21 amino acid sequences of immunoglobulin G with verified or similar to tregitopes function were selected. The analysis of the binding strength with MHC-I was carried out on 41 various alleles since MHC-I can be coded by numerous alleles. The first phase of study attempted to find a correlation between the half minimal inhibitory concentration (LogIC50) calculated for MHC-I and physicochemical properties. From formulated arithmetic statements, only one allowed to determine significant correlation with LogIC50 with reference to alleles A*02:01 and A*02:06. The correlations for the alleles were linear and sigmoid, respectively (p<0.001). The presence of the repeated amino acids was confirmed in the sequences of the studied compounds. These amino acids are connected with stronger binding or lack of the binding with MHC-I expressed by LogIC50. The study shows the translation from the classification (cloud) model to the linear one. The significant linear dependence between chemical structure of tregitopes and their LogIC50 calculated for MHC-I was displayed. The presented method can be used in screening of new sequences that have regulatory properties for regulatory T-cells.

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Association of HLA-A02:06 and HLA-DRB104:05 with clinical subtypes of juvenile idiopathic arthritis

Cited by 23 publications

References 23 publications

PADI4 and the HLA-DRB1 shared epitope in juvenile idiopathic arthritis

PADI4 and the HLA-DRB1 shared epitope in juvenile idiopathic arthritis

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

Relationship between Tregitopes Structure and Binding with Major Histocompatibility Complex Class I

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