中国10个地区成年人外周血嵌合染色体变异的流行病学分布特征

宋明钰; 赵禹碹; 韩雨廷; 吕筠; 余灿清; 裴培; 杜怀东; 陈君石; 陈铮鸣; 孙点剑一; 李立明

Abstract

宋明钰,赵禹碹,韩雨廷,吕筠,余灿清,裴培,杜怀东,陈君石,陈铮鸣,孙点剑一,李立明.中国10个地区成年人外周血嵌合染色体变异的流行病学分布特征[J].Chinese journal of Epidemiology,2023,44(7):1021-1026

中国10个地区成年人外周血嵌合染色体变异的流行病学分布特征

Epidemiological distribution characteristics of peripheral blood mosaic chromosomal alteration in adults from 10 regions of China

Received:March 06, 2023

DOI：10.3760/cma.j.cn112338-20230306-00129

KeyWord: 嵌合染色体变异流行分布体细胞突变

English Key Word: Mosaic chromosomal alteration Epidemiological distribution Somatic mutation

FundProject:国家自然科学基金（82103920，82192901，82192904，82192900）；英国Wellcome Trust（212946/Z/18/Z，202922/Z/16/Z，104085/Z/14/Z，088158/Z/09/Z）；中国香港Kadoorie Charitable基金

Author Name	Affiliation	E-mail
Song Mingyu	Key Laboratory of Epidemiology of Major Diseases, Ministry of Education/Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China
Zhao Yuxuan	Key Laboratory of Epidemiology of Major Diseases, Ministry of Education/Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China
Han Yuting	Key Laboratory of Epidemiology of Major Diseases, Ministry of Education/Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China
Lyu Jun	Key Laboratory of Epidemiology of Major Diseases, Ministry of Education/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
Yu Canqing	Key Laboratory of Epidemiology of Major Diseases, Ministry of Education/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
Pei Pei	Peking University Center for Public Health and Epidemic Preparedness & Response, Beijing 100191, China
Du Huaidong	Medical Research Council Population Health Research Unit, University of Oxford, Oxford OX3 7LF, United Kingdom Clinical Trial Service Unit and Epidemiological Studies Unit, Nuffield Department of Population Health, University of Oxford, Oxford OX3 7LF, United Kingdom
Chen Junshi	China National Center for Food Safety Risk Assessment, Beijing 100022, China
Chen Zhengming	Clinical Trial Service Unit and Epidemiological Studies Unit, Nuffield Department of Population Health, University of Oxford, Oxford OX3 7LF, United Kingdom
Sun Dianjianyi	Key Laboratory of Epidemiology of Major Diseases, Ministry of Education/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
Li Liming	Key Laboratory of Epidemiology of Major Diseases, Ministry of Education/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

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Abstract:

目的描述外周血嵌合染色体变异（mCA）在我国10个地区30~79岁自然人群的流行病学分布特征。方法纳入中国慢性病前瞻性研究（CKB）10个项目地区中已有基线数据（人口学特征、生活方式、体格检查等）和外周血基因分型数据的100 297名研究对象，通过嵌合染色体变异工作流计算mCA表型检出率，采用logistic回归比较mCA检出率在不同地区、不同特征人群间的分布差异。结果共检出5 810名mCA携带者，检出率为5.8%，标化后检出率为5.1%。mCA检出率随基线年龄增长逐渐升高，30~、51~、>60岁人群检出率分别为3.4%、5.0%和9.4%（趋势检验P<0.001）；男性检出率（8.0%）高于女性（4.0%），城市检出率（6.4%）高于农村（5.3%），差异均有统计学意义（P<0.001）。调整年龄、性别和10个地区后，当前吸烟或因病戒烟者、低体力活动水平者mCA检出率较高，肥胖者mCA检出率（5.3%）低于正常体重者（5.9%），差异有统计学意义（P=0.006）。结论我国10个地区30~79岁自然人群的mCA检出率存在地区和人群分布差异。相关结果有助于识别分子衰老人群，指导肿瘤等年龄相关疾病的精准预防。

English Abstract:

Objective To describe the epidemiological distribution characteristics of peripheral blood mosaic chromosomal alteration (mCA) in community adults aged 30-79 years in 10 regions of China. Methods A total of 100 297 participants with complete baseline information (demographic characteristics, lifestyle, physical examination, etc.) and genotyping data of blood-derived DNA in ten regions of the China Kadoorie Biobank study were included. The mCAs were detected with the Mosaic Chromosomal Alterations pipeline, and logistic regression models were used to compare the differences in the detection rate of mCAs in different regions and populations. Results A total of 5 810 mCA carriers were detected, with the detection rate of 5.8%. The standardized detection rate was 5.1%. The baseline detection rate of mCA increased with age, which were 3.4%, 5.0%, and 9.4% in those aged 30-, 51-, and >60 years, respectively (trend test P<0.001). A more significant proportion of mCAs were found in men (8.0%) than women (4.0%), as well as in urban areas (6.4%) than in rural areas (5.3%), the difference was significant (P<0.001). After adjusting for age and gender, the detection rate of mCA was higher in current smokers or people quitting smoking due to illness and people with low physical activity level, and the mCA detection rate was lower in obesy people (5.3%) than that in people with normal body weight (5.9%) (P=0.006). Conclusions The detection rate of mCAs varied with region and population in community adults aged 30-79 years in 10 regions of China. The study results might contribute to the molecular identification of aging populations and guide precision prevention of age-related diseases such as cancers.

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