CTLA-4基因外显子1 A/G49多态性与特发性1型糖尿病的相关性研究

【目的】探讨细胞毒性T淋巴细胞相关抗原4（cytotoxic T lymphocyte-associated antigen 4，CT—LA-4）基因外显子1A／G^49多态性与中国汉族人特发性1型糖尿病（T1DM）的关系。【方法】采用多聚酶链式反应限制性片段长度多态性（PCR—RFLP）技术检测179例特发性T1DM患者和290例健康对照者CTLA-4基因外显子1A／G^49基因型，分析此位点多态性与特发性T1DM的相关性。【结果】特发性T1DM组等位基因G^49频率明显高于正常对照组（P〈0．01），基因型GG明显高于正常对照组（P=0．002），基因型AA明显低于正常对照组（P=0．004）。【结论ICTLA-4基因A／G^49多态性与特发性T1DM易感性相关。

Association Between CTLA-4 gene A/G49 Polymorphism and Idiopathic Type 1 Diabetes

[Objective]To investigate the association of cytotoxic T lymphocyte-associated antigen-4(CTLA-4) gene polymorphism with idiopathic type 1 diabetes in Chinese Han population.[Methods]The A/G phenotype at position 49 of the CTLA-4 gene was determined by polymerase chain reaction restriction fragment length polymorphism(PCR-RFLP) method in 179 idiopathic type 1 diabetes patients and 290 healthy control subjects of Chinese Han.[Results]The frequencies of the G~(49) allele and GG genotype were significantly higher and AA genotype was significantly lower in idiopathic type 1 diabetes patients than control subjects(P< 0.01) . [Conclusion]The polymorphism of CTLA-4 gene A/G~(49) confers susceptibility to idiopathic type 1 diabetes