Diagnostic value of urine gene methylation combined with folate metabolism gene polymorphism in bladder cancer
10.3969/j.issn.1000-484X.2025.07.006
- VernacularTitle: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
- Author:
Juanjuan HOU
1
;
Yaqian NIU
;
Dan ZHANG
;
Jianlong ZHENG
;
Guoping ZHANG
;
Junqiang TIAN
;
Zhenyun WANG
Author Information
1. 庆阳市人民医院/兰州大学第二医院庆阳医院分子诊断中心,庆阳 745000
- Publication Type:Journal Article
- Keywords:
Bladder cancer;
Gene methylation;
Urine exfoliated cells;
Folate gene polymorphism
- From:
Chinese Journal of Immunology
2025;41(7):1574-1580
- CountryChina
- Language:Chinese
-
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.
