人类宏基因组变异与疾病发生及个体化治疗的研究进展  

Advancements in the study of human metagenomic variations:implications for disease development and personalized medicine

作　　者：冼晓颖 周宏灏[1] 张伟[1] XIAN XiaoYing;ZHOU HongHao;ZHANG Wei(Hunan Key Laboratory of Pharmacomicrobiomics,Engineering Research Center of Applied Technology of Pharmacogenomics(Ministry of Education),Department of Clinical Pharmacology,Xiangya Hospital,Central South University,Changsha 410008,China;The First Affiliated Hospital of Shantou University Medical College,Shantou 515041,China)

机构地区：[1]中南大学湘雅医院临床药理研究所,湖南省药物微生物组重点实验室,教育部药物基因组应用技术工程中心,长沙410008 [2]汕头大学医学院附属第一医院,汕头515041

出　　处：《中国科学：生命科学》2024年第11期2029-2036,共8页Scientia Sinica(Vitae)

基　　金：国家自然科学基金(批准号:82073945)资助。

摘　　要：人类肠道微生物在影响宿主健康方面起着重要作用.以往的研究多数是在属水平或种水平上探讨肠道微生物及其代谢物对宿主健康的影响,但这种水平的分辨率可能不足以全面了解肠道微生物与人类健康之间的联系.微生物具有广泛的遗传变异,包括单核苷酸变异(single nucleotide variants,SNVs)或单核苷酸多态性(single-nucleotide polymorphisms,SNPs)、结构变异(structural variants,SVs)和可移动遗传元件.这些遗传变异可能会导致肠道微生物组成、功能等方面的改变,进而影响微生物与宿主之间的相互作用.本文首次提出药物宏基因组学概念,并系统综述了人类宏基因组变异对宿主生理调节、疾病进展和个体化药物治疗响应的影响,以期了解肠道微生物与人类健康之间复杂的关系,为研究肠道微生物基因多态性对人类健康的影响提供参考,为基于肠道微生物的个体化医疗探索提供方向和依据.Gut microbiome significantly influences human health.Previous studies have examined these relationships at the genus or species level.However,this level of resolution may not be sufficient to fully understand the relationships between the gut microbiome and human health.Microbiome has a wide range of genetic variations,including single nucleotide variants(SNVs)or single-nucleotide polymorphisms(SNP),structural variants(SVs)and mobile genetic elements,which in turn affects microbe-host interactions.In this paper,we first proposed the concept of pharmacometagenomics,and systematically reviewed the impact of human metagenomic variations on host physiological regulation,disease progression and response to individual drug therapy to understand the complex relationships between gut microbes and human health.It will provide a reference for studying the impact of pharmacometagenomics on human health,and a basis for exploring personalized medicine based on gut microbiome.

关 键 词：药物宏基因组学 肠道微生物 基因多态性 单核苷酸变异 单核苷酸多态性 基因结构变异 个体化医疗 

分 类 号：R363[医药卫生—病理学]