孟德尔随机化在原发性肝癌危险因素研究中的应用

Application of Mendelian randomization in the study of risk factors for primary liver cancer

原发性肝癌(primary liver cancer,PLC)是最常见的恶性肿瘤之一,具有发病率高、病死率高的特点,对PLC患者危险因素的早期识别有助于减轻国家医疗负担。孟德尔随机化(Mendelian randomization,MR)以遗传变异为工具变量,因可以克服传统观察性研究中的混杂偏移而在近年来得到广泛应用,该方法通过使用同一人群中2项全基因组关联研究的独立结果,在遗传风险因素的关联研究方面有效且可靠,目前已应用于评估多种肿瘤与肠道菌群、生活方式、基础疾病等之间潜在的因果联系。本文对MR在PLC危险因素中的应用进行综述,以期为早期防治PLC提供依据。

Primary liver cancer(PLC)is one of the most common malignant tumors with high morbidity and mortality.Early identification of risk factors for PLC patients could help alleviate the national healthcare burden.Mendelian randomization(MR),which takes genetic variation as an instrumental variable,has been widely used in recent years due to its ability to address confounding biases often encountered in traditional observational studies.This method is effective and reliable in the association of genetic risk factors by utilizing independent results from two genome-wide association studies within the same population.It has been applied to evaluate potential causal links between a variety of tumors and gut microbiota,lifestyle,underlying diseases,etc.In this paper,we provide a comprehensive review of the application of MR in identifying risk factors for PLC,aiming to provide valuable insights for early prevention and control strategies.