+49A>G CTLA-4 多态性与墨西哥人群的类风湿关节炎有关。
The +49A>G CTLA-4 polymorphism is associated with rheumatoid arthritis in Mexican population.
机构信息
Instituto de Investigación en Reumatología y del Sistema Músculo Esquelético, Departamento de Biología Molecular y Genómica, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico.
出版信息
Clin Chim Acta. 2010 May 2;411(9-10):725-8. doi: 10.1016/j.cca.2010.02.001. Epub 2010 Feb 6.
BACKGROUND
The Cytotoxic T lymphocyte antigen (CTLA-4) is one of the major susceptibility genes associated with autoimmune diseases. Susceptibility to rheumatoid arthritis (RA) is determined by both environmental and genetic factors. The genetic contribution approaches 50-60%. The association between RA with the +49A>G CTLA-4 polymorphism in the Mexican population was investigated.
METHODS
The polymerase chain reaction-restriction fragment was used to amplify the +49A>G CTLA-4 polymorphism in RA patients and healthy subjects (HS).
RESULTS
We analyzed the association between the +49A>G CTLA-4 polymorphism and RA. The G allele frequency was higher in RA patients than HS (46.8 vs 37.7%, OR=1.45, p=0.01). RA patients carrying the A/G genotype were significantly more likely to be positive to CRP and RF. There was no evidence of an association between SNP genotypes and the clinical characteristics of rheumatoid arthritis.
CONCLUSIONS
The +49A>G CTLA-4 polymorphism is a genetic marker of susceptibility for RA in western Mexican population.
背景
细胞毒性 T 淋巴细胞相关抗原 4（CTLA-4）是与自身免疫性疾病相关的主要易感基因之一。类风湿关节炎（RA）的易感性由环境和遗传因素决定。遗传因素约占 50-60%。本研究旨在调查 CTLA-4 基因+49A>G 多态性与墨西哥人群 RA 的相关性。
方法
采用聚合酶链反应-限制性片段长度多态性方法检测 RA 患者和健康对照者 CTLA-4 基因+49A>G 多态性。
结果
我们分析了 CTLA-4 基因+49A>G 多态性与 RA 的相关性。与健康对照组相比，RA 患者的 G 等位基因频率更高（46.8%比 37.7%，OR=1.45，p=0.01）。携带 A/G 基因型的 RA 患者更易出现 CRP 和 RF 阳性。该 SNP 基因型与类风湿关节炎的临床特征之间无明显相关性。
结论
CTLA-4 基因+49A>G 多态性是墨西哥西部人群 RA 的易感遗传标记。
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