文章摘要
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].中华流行病学杂志,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
收稿日期:2023-03-06  出版日期:2023-07-15
DOI:10.3760/cma.j.cn112338-20230306-00129
中文关键词: 嵌合染色体变异  流行分布  体细胞突变
英文关键词: Mosaic chromosomal alteration  Epidemiological distribution  Somatic mutation
基金项目: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
作者单位E-mail
宋明钰 北京大学公共卫生学院流行病与卫生统计学系/重大疾病流行病学教育部重点实验室, 北京 100191  
赵禹碹 北京大学公共卫生学院流行病与卫生统计学系/重大疾病流行病学教育部重点实验室, 北京 100191  
韩雨廷 北京大学公共卫生学院流行病与卫生统计学系/重大疾病流行病学教育部重点实验室, 北京 100191  
吕筠 北京大学公共卫生学院流行病与卫生统计学系/重大疾病流行病学教育部重点实验室, 北京 100191
北京大学公众健康与重大疫情防控战略研究中心, 北京 100191 
 
余灿清 北京大学公共卫生学院流行病与卫生统计学系/重大疾病流行病学教育部重点实验室, 北京 100191
北京大学公众健康与重大疫情防控战略研究中心, 北京 100191 
 
裴培 北京大学公众健康与重大疫情防控战略研究中心, 北京 100191  
杜怀东 英国牛津大学医学研究委员会人口健康研究组, 牛津 OX3 7LF
英国牛津大学临床与流行病学研究中心纳菲尔德人群健康系, 牛津 OX3 7LF 
 
陈君石 国家食品安全风险评估中心, 北京 100022  
陈铮鸣 英国牛津大学临床与流行病学研究中心纳菲尔德人群健康系, 牛津 OX3 7LF  
孙点剑一 北京大学公共卫生学院流行病与卫生统计学系/重大疾病流行病学教育部重点实验室, 北京 100191
北京大学公众健康与重大疫情防控战略研究中心, 北京 100191 
dsun1@bjmu.edu.cn 
李立明 北京大学公共卫生学院流行病与卫生统计学系/重大疾病流行病学教育部重点实验室, 北京 100191
北京大学公众健康与重大疫情防控战略研究中心, 北京 100191 
 
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中文摘要:
      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。
英文摘要:
      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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