兰州大学学报（医学版）2025，Vol.51Issue(3)：38-46,9.DOI:10.13885/j.issn.1000-2812.2025.03.006
组织蛋白酶与头颈部恶性肿瘤发病风险的孟德尔随机化分析
A Mendelian randomization study of the association between cathepsin expression levels and the risk of head and neck malignant tumor
摘要
Abstract
Objective Mendelian randomization(MR)analysis was performed with pooled data from genome-wide association studies to evaluate the causal relationship between 9 types of cathepsins and 11 types of head and neck malignant tumor(ocular malignancy,nasopharyngeal carcinoma,nasal and sinus malignancy,parotid gland malignancy,lip malignancy,thyroid malignancy,thyroid papilloma,thyroid follicular adenocarcinoma,brain malignancy,glioblastoma,astrocytoma).Methods The inverse variance weighting method was selected as the main method for effect evaluation,and the results of four methods,namely MR-Egger regression,weighted median method,simple estimation based on mode,and weighted estimation based on mode were used as references.The study's stability and reliability were assessed using Cochran's Q test,MR-Egger inter-cept method,MR-PRESSO method,leave-one-out analysis and funnel plot analysis.Finally,reverse MR was performed to test whether there was a reverse causality in the conclusion.Results MR inverse variance weighted method showed that higher levels of cathepsin F(CTSF)were associated with an increased risk of nasopharyngeal carcinoma(P=0.025).Elevated levels of cathepsin S(CTSS)were associated with an increased risk of brain malignancy(P=0.031).Elevated levels of cathepsin O(CTSO)were significantly associated with a reduced risk of thyroid cancer(P=0.028)and its subtypes of thyroid follicular adenocarcinoma(P=0.027).There was no reverse causality,heterogeneity or horizontal pleiotropy in this study.Conclusion CTSF,CTSS,and CTSO exhibit potential causal associations with the risk of developing nasopharyngeal carcino-ma,malignant brain tumors,thyroid cancer,and follicular thyroid carcinoma,respectively.关键词
组织蛋白酶/头颈部恶性肿瘤/孟德尔随机化分析/全基因组关联研究/因果推断Key words
cathepsin/head and neck malignant tumor/Mendelian randomization analysis/genome-wide asso-ciation study/causal inference分类
临床医学引用本文复制引用
宋帆,孙鹏飞,付正丰..组织蛋白酶与头颈部恶性肿瘤发病风险的孟德尔随机化分析[J].兰州大学学报（医学版）,2025,51(3):38-46,9.基金项目
甘肃省卫生健康行业科研计划资助项目(GSWSKY2023-04) （GSWSKY2023-04）
兰州大学第二医院(第二临床医学院)"萃英科技创新"计划资助项目(CY2023-MS-A06) （第二临床医学院）
