日本类风湿关节炎患者的CTLA-4基因多态性

CTLA-4 gene polymorphism in Japanese patients with rheumatoid arthritis.

作者信息

Yanagawa T, Gomi K, Nakao E I, Inada S

机构信息

Department of Medicine, Nerima General Hospital, Tokyo, Japan.

出版信息

J Rheumatol. 2000 Dec;27(12):2740-2.

PMID:11128657

Abstract

OBJECTIVE

To examine whether CTLA-4 gene confers susceptibility to rheumatoid arthritis (RA) in Japanese.

METHODS

We investigated the distribution of a CTLA-4 gene polymorphism in 85 Japanese patients with RA and 200 controls. An A/G transition at position 49 of exon 1 was analyzed by the polymerase chain reaction (PCR)-restriction fragment length polymorphism method. The patients were also analyzed with respect to HLA-DR status. HLA-DR typing was performed by PCR sequence-specific oligonucleotide typing.

RESULTS

The distribution of genotype frequencies differed between RA and controls (chi-squared 8.63, 2 df, p = 0.013). The CTLA-4 AG genotype occurred more frequently in patients with RA (59 vs 44%), and the presence of at least one G allele (GG or AG) conferred an odds ratio of 2.53 (95% CI 1.74-3.32). When the patients were analyzed with respect to HLA-DR status, this association was restricted to patients carrying the susceptible HLA allele (HLA-DRB1*0405).

CONCLUSION

The CTLA-4 gene is associated with Japanese patients with RA carrying the susceptible HLA allele.

摘要

目的

研究细胞毒性T淋巴细胞相关抗原4（CTLA-4）基因是否赋予日本人患类风湿关节炎（RA）的易感性。

方法

我们调查了85例日本RA患者和200例对照中CTLA-4基因多态性的分布情况。采用聚合酶链反应（PCR）-限制性片段长度多态性方法分析第1外显子49位的A/G转换。同时对患者的人类白细胞抗原-DR（HLA-DR）状态进行分析。通过PCR序列特异性寡核苷酸分型法进行HLA-DR分型。

结果

RA患者和对照组的基因型频率分布存在差异（卡方值8.63，自由度2，p = 0.013）。CTLA-4 AG基因型在RA患者中出现的频率更高（59%对44%），并且至少存在一个G等位基因（GG或AG）的比值比为2.53（95%可信区间1.74 - 3.32）。当根据HLA-DR状态对患者进行分析时，这种关联仅限于携带易感HLA等位基因（HLA-DRB1*0405）的患者。