Orozco G, Torres B, Núñez-Roldán A, González-Escribano M F, Martín J
Instituto de Parasitología y Biomedicina López Neyra, CSIC, Granada, Spain.
Tissue Antigens. 2004 Dec;64(6):667-70. doi: 10.1111/j.1399-0039.2004.00318.x.
Cytotoxic T-lymphocyte antigen-4 (CTLA-4) is a functional candidate gene with susceptibility to rheumatoid arthritis (RA). The aim of this work was to investigate the possible influence of the recently described CT60A/G dimorphism of the CTLA-4 gene in the susceptibility to RA in Spanish patients. A total of 433 RA patients and 398 control subjects were included in the study. Genotyping of CTLA-4 CT60 was performed using two different methods: polymerase chain reaction restriction fragment length polymorphism system using an amplification-created restriction site and a TaqMan 5'-allelic discrimination assay. In order to validate results obtained by different methods, a quality-control exercise was performed. No significant deviation in the distribution of the alleles or genotypes of the CT60 was found when we compared RA patient and control groups. In addition, no differences in CTLA-4 CT60 genotypic distribution was found when RA patients and controls were stratified by the presence or absence of the shared epitope. In conclusion, our results do not support an association between CT60A/G polymorphism and susceptibility to RA in the Spanish population, although the contribution of other positions located within the 3' region of the CTLA-4 gene to RA susceptibility cannot be discarded.
细胞毒性T淋巴细胞抗原4（CTLA-4）是类风湿关节炎（RA）易感性的一个功能性候选基因。本研究的目的是调查最近描述的CTLA-4基因CT60A/G二态性对西班牙患者RA易感性的可能影响。该研究共纳入433例RA患者和398例对照受试者。采用两种不同方法对CTLA-4 CT60进行基因分型：利用扩增产生的限制性位点的聚合酶链反应限制性片段长度多态性系统和TaqMan 5'-等位基因鉴别分析。为了验证不同方法获得的结果，进行了质量控制实验。当我们比较RA患者组和对照组时，未发现CT60等位基因或基因型分布有显著差异。此外，当根据是否存在共同表位对RA患者和对照组进行分层时，未发现CTLA-4 CT60基因型分布存在差异。总之，我们的结果不支持CT60A/G多态性与西班牙人群RA易感性之间存在关联，尽管不能排除CTLA-4基因3'区域内其他位点对RA易感性的影响。
