巴西类风湿性关节炎患者中HLA - DRB1等位基因频率的研究。

Study of the frequency of HLA-DRB1 alleles in Brazilian patients with rheumatoid arthritis.

作者信息

Usnayo Magali Justina Gómez, Andrade Luis Eduardo Coelho, Alarcon Renata Triguenho, Oliveira Juliana Cardoso, Silva Gustavo Milson Fabrício, Bendet Izidro, Burlingame Rufus, Porto Luis Cristóvão, Pinheiro Geraldo da Rocha Castelar

机构信息

Programa de Pós-graduação em Ciências Médicas, Universidade Estadual do Rio de Janeiro, Brasil.

出版信息

Rev Bras Reumatol. 2011 Sep-Oct;51(5):474-83.

PMID:21952999

Abstract

UNLABELLED

The HLA-DRB1 alleles encoding an amino acid sequence (QKRAA/QRRAA/RRRAA) at position 70 74 of the third hypervariable region of the β1 chain of the HLA-DRB1 gene, called shared epitope (SE), are associated with increased susceptibility to and severity of rheumatoid arthritis (RA) in different populations.

OBJECTIVE

To determine the frequency of HLA-DRB1 alleles in Brazilian patients with RA and their association with rheumatoid factor (RF) and anti-citrullinated peptide antibodies (ACPA).

METHODS

Four hundred and twelve patients with RA (ACR 1987) and 215 controls were included. HLA-DRB1 typing was performed by use of polymerase chain reaction (PCR) with specific primers and hybridization with sequence-specific oligonucleotide probe (SSOP). ACPA was measured by use of the ELISA technique and RF by nephelometry. The statistical analysis comprised the chi-square and Student t tests and logistic regression.

RESULTS

HLA-DRB1*04:01, *04:04, 04:05 alleles were associated with RA (P < 0.05); despite the wide confidence interval, it is worth noting the association between the DRB109:01 allele and RA (P < 0.05). HLA-DRB1 SE+ alleles were observed in 62.8% of the patients and in 31.1% of controls (OR 3.62; P < 0.001) and were associated with ACPA (OR 2.03; P < 0.001). DRB1-DERAA alleles showed a protective effect against RA (OR 0.42; P < 0.001).

CONCLUSION

In a sample of Brazilian patients with RA, most of whom of mixed heritage, HLA-DRB1 SE+ alleles were associated with susceptibility to disease and presence of ACPA.

摘要

未标注

HLA - DRB1基因β1链第三高变区第70 - 74位编码氨基酸序列（QKRAA/QRRAA/RRRAA）的等位基因，称为共享表位（SE），在不同人群中与类风湿关节炎（RA）易感性增加及病情严重程度相关。

目的

确定巴西RA患者中HLA - DRB1等位基因频率及其与类风湿因子（RF）和抗瓜氨酸化肽抗体（ACPA）的关联。

方法

纳入412例RA患者（1987年美国风湿病学会标准）和215例对照。采用聚合酶链反应（PCR）及特异性引物和序列特异性寡核苷酸探针（SSOP）杂交进行HLA - DRB1分型。采用ELISA技术检测ACPA，散射比浊法检测RF。统计分析包括卡方检验、学生t检验和逻辑回归。

结果

HLA - DRB1*04:01、*04:04、04:05等位基因与RA相关（P < 0.05）；尽管置信区间较宽，但值得注意的是DRB109:01等位基因与RA的关联（P < 0.05）。62.8%的患者和31.1%的对照中观察到HLA - DRB1 SE + 等位基因（比值比3.62；P < 0.001），且与ACPA相关（比值比2.03；P < 0.001）。DRB1 - DERAA等位基因对RA有保护作用（比值比0.42；P < 0.001）。