癌症研究中的孟德尔随机化:机遇与挑战。

IF 2.8 2区 医学 Q3 IMMUNOLOGY
Mengyao Tang, Lanlan Chen
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引用次数: 0

摘要

孟德尔随机化(MR)越来越多地用于癌症研究,通过利用遗传变异作为工具变量来推断因果关系。虽然全基因组关联研究和生物银行数据的增长扩大了核磁共振的应用范围,但这种激增——尤其是在中国——引发了对方法严谨性的担忧。这种广泛采用的部分原因可能是MR关键文献的中文翻译。最近的进展,如多变量核磁共振、中介分析以及与人工智能和组学数据的整合,增强了核磁共振研究的稳健性和生物学可解释性。然而,挑战依然存在,包括水平多效性、弱仪器偏差以及将生物标志物误读为因果暴露。为了提高核磁共振研究的可信度,目前正在采用像STROBE-MR和MR- grade这样的框架。本文回顾了MR方法的改进和持续存在的缺陷,特别是在癌症流行病学中,并强调了在这个快速发展的领域确保有效性的策略。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Mendelian randomization in cancer research: opportunities and challenges.

Mendelian Randomization (MR) is increasingly used in cancer research to infer causal relationships by leveraging genetic variants as instrumental variables. While the growth of genome-wide association studies and biobank data has expanded the utility of MR, this surge-particularly pronounced in China-raises concerns about methodological rigor. The widespread adoption may be partly driven by the Chinese translation of key MR literature. Recent advances such as multivariable MR, mediation analysis, and integration with AI and omics data have enhanced the robustness and biological interpretability of MR studies. However, challenges persist, including horizontal pleiotropy, weak instrument bias, and misinterpretation of biomarkers as causal exposures. To improve MR study credibility, frameworks like STROBE-MR and MR-GRADE are being adopted. This article reviews methodological improvements and persistent pitfalls in MR, especially within cancer epidemiology, and highlights strategies for ensuring validity in this rapidly evolving field.

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来源期刊
Infectious Agents and Cancer
Infectious Agents and Cancer ONCOLOGY-IMMUNOLOGY
CiteScore
5.80
自引率
2.70%
发文量
54
期刊介绍: Infectious Agents and Cancer is an open access, peer-reviewed online journal that encompasses all aspects of basic, clinical, epidemiological and translational research providing an insight into the association between chronic infections and cancer. The journal welcomes submissions in the pathogen-related cancer areas and other related topics, in particular: • HPV and anogenital cancers, as well as head and neck cancers; • EBV and Burkitt lymphoma; • HCV/HBV and hepatocellular carcinoma as well as lymphoproliferative diseases; • HHV8 and Kaposi sarcoma; • HTLV and leukemia; • Cancers in Low- and Middle-income countries. The link between infection and cancer has become well established over the past 50 years, and infection-associated cancer contribute up to 16% of cancers in developed countries and 33% in less developed countries. Preventive vaccines have been developed for only two cancer-causing viruses, highlighting both the opportunity to prevent infection-associated cancers by vaccination and the gaps that remain before vaccines can be developed for other cancer-causing agents. These gaps are due to incomplete understanding of the basic biology, natural history, epidemiology of many of the pathogens that cause cancer, the mechanisms they exploit to cause cancer, and how to interrupt progression to cancer in human populations. Early diagnosis or identification of lesions at high risk of progression represent the current most critical research area of the field supported by recent advances in genomics and proteomics technologies.
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