细胞毒性T淋巴细胞相关抗原4基因微卫星多态性与炎症性肠病的关系

目的探讨细胞毒性T淋巴细胞相关抗原4（CTLA-4）基因微卫星多态性与浙江省炎症性肠病（IBD）患者的相关性。方法对118例无血缘关系的IBD患者（99例溃疡性结肠炎，19例克罗恩病）以及140例正常对照者，采用特异性等位基因PCR方法，检测CTLA-4外显子4的3′非翻译区包含（AT）。重复序列的等位基因。扩增产物用12％非变性聚丙烯酰胺凝胶电泳，硝酸银染色。结果CTLA-4微卫星共有20种等位基因。与正常对照组比较，122bp等位基因频率在溃疡性结肠炎患者（P=0.0001／Pc=0．0025，OR=11.393，95％CI：2．574～50．429）和克罗恩病患者（P=0．0003／Pc=0.0050，OR=21.061，95％CI：3，927～112．94）中均显著增高。结论CTLA-4基因微卫星多态性与浙江省IBD患者显著相关。

The study of relationship between the microsatellite polymorphism of cytotoxic T lymphocyte associated antigen-4 gene and inflammatory bowel disease

Objective To investigate the relationship between the microsatellite polymorphism of cytotoxic T lymphocyte associated antigen-4 (CTLA-4) gene and inflammatory bowel disease(IBD) patients in Zhejiang province. Methods One hundred and eighteen IBD patients without consanguinity (99 patients with ulcerative colitis, 19 patients with Crohn's disease) and 140 healthy controls were studied. The (AT) repeats in the 3' untranslated region of exon 4 of CTLA-4 gene were amplified by allele-specific PCR. The amplified products were electrophoresed with 12% polyacrylamide gel, followed by silver staining. Results Twenty alleles were found in IBD patients and healthy controls. The frequency of 122 bp allele was higher in patients with ulcerative colitis (P=0.0001/Pc=0.0025, OR= 11.393, 95% CI:2.574-50.429) and Crohn's disease (P=0.0003/Pc=0.0050, OR=21.061, 95% CI:3.927-112.94) than that in healthy controls. Conclusion CTLA-4 gene microsatellite polymorphism was obviously associated with IBD in Zhejiang province.