| 宋明钰,赵禹碹,韩雨廷,余灿清,吕筠,李立明,孙点剑一.常染色体嵌合变异的流行病学分布及其影响因素研究进展[J].Chinese journal of Epidemiology,2022,43(12):2026-2029 |
| 常染色体嵌合变异的流行病学分布及其影响因素研究进展 |
| Research progress on the epidemiological distribution and influencing factors of autosomal mosaic chromosomal alteration |
| Received:July 15, 2022 |
| DOI：10.3760/cma.j.cn112338-20220715-00632 |
| KeyWord: 体细胞嵌合 嵌合染色体变异 衰老 影响因素 |
| English Key Word: Somatic mosaicism Mosaic chromosomal alteration Ageing Influencing factors |
| FundProject:国家自然科学基金（82103920，81941018）；国家重点研发计划（2020YFC2003405） |
| Author Name | Affiliation | E-mail | | Song Mingyu | Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China | | | Zhao Yuxuan | Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China | | | Han Yuting | Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China | | | Yu Canqing | Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China
Peking University Center for Public Health and Epidemic Preparedness & Response, Beijing 100191, China | | | Lyu Jun | Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China
Peking University Center for Public Health and Epidemic Preparedness & Response, Beijing 100191, China | | | Li Liming | Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China
Peking University Center for Public Health and Epidemic Preparedness & Response, Beijing 100191, China | | | Sun Dianjianyi | Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China
Peking University Center for Public Health and Epidemic Preparedness & Response, Beijing 100191, China | dsun1@bjmu.edu.cn |
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| Abstract: |
| 人类体细胞突变的发生和积累，又称体细胞嵌合现象。其中，嵌合染色体变异（mCA）对基因组完整性的影响最为显著，被视为人类衰老的表型之一。随着全球人口老龄化进程的加速，了解mCA的人群流行病学分布及其影响因素，有助于探索人体衰老进程中“基因组失稳”及其相关生物学机制，为人类年龄相关疾病的一级预防提供科学依据。本文旨在汇总既往大规模人群研究结果，对外周血常染色体mCA的人群流行病学分布及其影响因素进行综述。 |
| English Abstract: |
| Somatic mosaicism is defined as the occurrence and accumulation of somatic mutations in humans, and mosaic chromosomal alterations (mCA) are recognized as one of the aging phenotypes due to their impact on genome integrity. With the coming acceleration of global population aging, understanding the prevalence and influencing factors of mCA will help to explore the "genomic instability" of human aging and its biological mechanisms and provide the scientific basis for the primary prevention of age-related diseases. This review aims to summarize the epidemiological distribution and influencing factors of autosomal mCA in peripheral blood based on previous large-scale population-based studies. |
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