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结直肠癌研究中的宿主遗传学和微生物组数据分析。

Host genetics and microbiota data analysis in colorectal cancer research.

机构信息

Hologenomics Research Group, Department of Genetics, Physical Anthropology, and Animal Physiology, University of the Basque Country, Spain.

Hologenomics Research Group, Department of Genetics, Physical Anthropology, and Animal Physiology, University of the Basque Country, Spain.

出版信息

Adv Genet. 2024;112:31-81. doi: 10.1016/bs.adgen.2024.08.007. Epub 2024 Sep 27.

Abstract

Colorectal cancer (CRC) is a heterogeneous disease with a complex aetiology influenced by a myriad of genetic and environmental factors. Despite advances in CRC research, it is a major burden of disease, with the second highest incidence and third leading cause of cancer deaths worldwide. To individualise diagnosis, prognosis, and treatment of CRC, developing new strategies combining precision medicine and bioinformatic procedures is promising. Precision medicine is based on omics technologies and aims to individualise the management of CRC based on patient host genetic characteristics and microbiota. Bioinformatics is central to the application of personalised medicine because it enables the analysis of large datasets generated by these technologies. At the level of host genetics, bioinformatics allows the identification of mutations, genes, molecular pathways, biomarkers and drugs relevant to colorectal carcinogenesis. At the microbiota level, bioinformatics is fundamental to analysing microbial communities' composition and functionality and developing biomarkers and personalised microbiota-based therapies. This paper explores the host and microbiota genetic data analysis in CRC research.

摘要

结直肠癌(CRC)是一种异质性疾病,其病因复杂,受众多遗传和环境因素影响。尽管 CRC 研究取得了进展,但它仍是一种主要的疾病负担,发病率居全球第二位,癌症死亡原因排名第三。为了实现 CRC 的个体化诊断、预后和治疗,结合精准医学和生物信息学程序开发新策略具有广阔前景。精准医学基于组学技术,旨在根据患者宿主遗传特征和微生物组来个体化管理 CRC。生物信息学是个性化医学应用的核心,因为它能够分析这些技术产生的大型数据集。在宿主遗传学水平上,生物信息学允许鉴定与结直肠发生相关的突变、基因、分子途径、生物标志物和药物。在微生物组水平上,生物信息学是分析微生物群落组成和功能以及开发生物标志物和基于个性化微生物组的治疗方法的基础。本文探讨了结直肠癌研究中的宿主和微生物组遗传数据分析。

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