CTLA-4和TGF-β1基因多态性与中国人大肠癌易感性研究  

Case-control study on relationship of CTLA-4 and TGF-β1 polymorphisms and susceptibility to colorectal cancer in Chinese patients

作　　者：赵莹莹 李保环 韩梅[1] 徐昌青[1] 杨静[1] ZHAO Ying-ying;LI Bao-huan;HAN Mei(Department of Gastroenterology,The First Affiliated Hospital of Shandong First Medical University&Shandong Provicial Qianfoshan Hospital,Shandong Jinan 250000)

机构地区：[1]山东第一医科大学第一附属医院(山东省千佛山医院)消化病学,山东济南250000

出　　处：《医学检验与临床》2022年第1期10-16,5,共8页Medical Laboratory Science and Clinics

摘　　要：目的:探讨细胞毒性T淋巴细胞相关抗原4(CTLA-4)和转化生长因子β1(TGF-β1)基因多态性及单倍型与中国人大肠癌(CRC)易感性的关系。方法:提取451例大肠癌患者和420例健康对照者的外周血基因组DNA,采用聚合酶链反应-限制性片段长度多态性法(PCR-RFLP)检测CTLA-4 rs4553808、CTLA-4 rs5742909和TGF-β1rs11466345位点基因型,采用条件Logistic回归模型分别进行基因多态性、单倍型与中国人大肠癌易感性的相关性分析。结果:CTLA-4 rs5742909和TGF-β1 rs11466345基因型均可增加大肠癌易感性,CTLA-49 rs4553808与大肠癌的易感性无关。单倍型分析表明,与对照组相比,大肠癌患者CTLA-4的AT和G9C单倍型频率显著降低(P<0.001,P=0.009)。CTLA-4 rs5742909与TGF-β1 rs11466345的联合作用与大肠癌易感性无关。结论:CTLA-4 rs5742909、TGF-β1 rs11466345基因多态性及CTLA-4的AT/GC单倍型与中国人大肠癌的遗传易感性相关。Objective:The aim of this study was to investigate the relationship between polymorphisms located on CTLA-4 and TGF-β1 genes and susceptibility of colorectal cancer(CRC).Methods:Genomic DNA was extracted from peripheral blood of 451 patients with colorectal cancer and 420 healthy controls.Genotypes of CTLA-4 rs4553808,CTLA-4 rs5742909,and TGF-β1 rs11466345 were determined by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP).Conditional Logistic regression was used for correlation analysis.Results:Risk of CRC was elevated in subjects with all genotypes of rs5742909(CTLA-4)and rs11466345(TGF-β1),but not rs4553808(CTLA-4).Haplotype analysis demonstrated that the frequencies of AT and GC haplotypes of CTLA-4 were significantly decreased in CRC patients(P<0.001,P=0.009,respectively)in comparison to the control group.Moreover,no significant differences between CTLA-4 and TGF-β1 were observed in the interaction analysis.Conclusion:Our results suggest that rs5742909(CTLA-4),rs11466345(TGF-β1)and the haplotype AT/GC of CTLA-4 are associated with genetic susceptibility to colorectal cancer.

关 键 词：大肠癌 基因多态性 细胞毒性T淋巴细胞相关抗原4 转化生长因子Β1 

分 类 号：R73[医药卫生—肿瘤]