中国免疫学杂志2025，Vol.41Issue(7)：1574-1580,7.DOI:10.3969/j.issn.1000-484X.2025.07.006
尿液基因甲基化联合叶酸代谢基因多态性在膀胱癌中的诊断价值
Diagnostic value of urine gene methylation combined with folate metabolism gene polymorphism in bladder cancer
摘要
Abstract
Objective:To investigate the application value of combined detection of urine genes Twist1,Onecut2,VIM methyl-ation and folate metabolism related genes MTHFR(C677T/A1298C),MTRR(A66G)polymorphisms in the screening and diagnosis of bladder cancer.Methods:A total of 134 patients with primary bladder cancer admitted to the Department of Urology of Qingyang Peo-ple's Hospital and the Second Hospital of Lanzhou University from January 2023 to January 2024 were selected(bladder cancer group),and a total of 130 patients with common benign urinary system diseases and other malignant tumors of urinary system treated with cystoscopy were admitted during the same period(control group).Methylation-specific polymerase chain reaction was used to de-tect the methylation of Twist1,Onecut2 and VIM genes in urine shed cells.PCR fluorescence probe fusion was used to detect the poly-morphism of folate metabolism-related genes in peripheral blood of patients,and collected the clinical data and immunological indica-tors,and to all the data for statistical analysis.Results:The methylation rates of hematuria,bladder irritation,Twist1,Onecut2 and VIM genes were significantly different between two groups(P<0.05).The area under ROC curve(AUC)of Twist1,Onecut2 and VIM genes methylation and their combined detection were 0.721,0.675,0.674 and 0.772,respectively.Sensitivity and specificity were 73.20%and 71.00%,56.10%and 79.00%,48.80%and 86.00%,80.50%and 69.00%,respectively.The AUC of hematuria and blad-der irritation were 0.661 and 0.652.The sensitivity and specificity were 60.20%and 72.00%,41.50%and 89.00%,respectively.The combined AUC of all indicators were the largest(0.858),and the sensitivity and specificity were higher.The frequencies of CC,CT,TT,and T alleles of MTHFR C677T in bladder cancer group were 21.64%,41.79%,36.56%and 57.46%,respectively.Compared with the control group,the difference was statistically significant(P<0.05).The T allele frequency was significantly different between methylated and unmethylated Twist1 groups(P<0.05).Others differences were not statistically significant,and there was no signifi-cant association with gene methylation(P>0.05).Conclusion:The methylation of Twist1,Onecut2 and VIM genes are highly ex-pressed in the urine cells of patients with bladder cancer,and the combination of hematuria and bladder irritation has a high predictive value for the diagnosis of bladder cancer.The MTHFR(C677T)T allele is associated with the methylation of Twist1 gene and may be one of the risk factors for bladder cancer.关键词
膀胱癌/基因甲基化/尿液脱落细胞/叶酸基因多态性Key words
Bladder cancer/Gene methylation/Urine exfoliated cells/Folate gene polymorphism分类
医药卫生引用本文复制引用
侯娟娟,牛亚倩,张丹,郑建龙,章国平,田俊强,王振运..尿液基因甲基化联合叶酸代谢基因多态性在膀胱癌中的诊断价值[J].中国免疫学杂志,2025,41(7):1574-1580,7.基金项目
中国医药教育协会2022重大科学攻关课题和医药技术难题重点课题(2022KTZ007) （2022KTZ007）
甘肃省自然科学基金项目(22JR5RM1043,23JRRM0747,25JRRM007) （22JR5RM1043,23JRRM0747,25JRRM007）
庆阳市科技重大专项计划(社会发展类)(QY-STK-2024A-094). （社会发展类）
