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.
Clin Chim Acta. 2010 May 2;411(9-10):725-8. doi: 10.1016/j.cca.2010.02.001. Epub 2010 Feb 6.
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.
The polymerase chain reaction-restriction fragment was used to amplify the +49A>G CTLA-4 polymorphism in RA patients and healthy subjects (HS).
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.
The +49A>G CTLA-4 polymorphism is a genetic marker of susceptibility for RA in western Mexican population.
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。
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。
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。
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。
