Lee Young Ho, Choi Seong Jai, Ji Jong Dae, Song Gwan Gyu
Division of Rheumatology, Department of Internal Medicine, College of Medicine, Korea University, Seoul, Korea.
Scand J Rheumatol. 2002;31(5):266-70. doi: 10.1080/030097402760375142.
The aim of this study is to investigate the significance of the polymorphisms of the cytotoxic T lymphocyte associated antigen-4 (CTLA-4) exon 1(+49) and promoter(-318) genes in rheumatoid arthritis (RA). Polymerase chain reaction of genomic DNA-restriction fragment length polymorphism was used to determine genotypes of the CTLA-4 exon 1(+49) and promoter(-318) in 86 RA patients and 86 healthy control subjects. There was no significant difference in genotype, allele and phenotype frequencies of the CTLA-4 exon 1(+49) and promoter(-318) genes between RA patients and control subjects. There was no significant difference in age at onset, severity, functional class (> or = 3), physician global assessment, ESR, CRP or RF titer in patients with RA according to the CTLA-4 polymorphisms. Our data show that the polymorphisms within the CTLA-4 exon 1(+49) and promoter(-318) genes are not associated with susceptibility to RA and its clinical/serological manifestations in the Korean population.
本研究旨在探讨细胞毒性T淋巴细胞相关抗原4(CTLA-4)外显子1(+49)和启动子(-318)基因多态性在类风湿关节炎(RA)中的意义。采用基因组DNA限制性片段长度多态性聚合酶链反应,对86例RA患者和86例健康对照者的CTLA-4外显子1(+49)和启动子(-318)进行基因分型。RA患者与对照者之间CTLA-4外显子1(+49)和启动子(-318)基因的基因型、等位基因和表型频率无显著差异。根据CTLA-4多态性,RA患者在发病年龄、严重程度、功能分级(≥3级)、医生整体评估、血沉、C反应蛋白或类风湿因子滴度方面无显著差异。我们的数据表明,CTLA-4外显子1(+49)和启动子(-318)基因内的多态性与韩国人群中RA的易感性及其临床/血清学表现无关。