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嵌合染色体变异全基因组关联研究进展题录
引用本文:赵禹碹,宋明钰,余灿清,吕筠,李立明,孙点剑一.嵌合染色体变异全基因组关联研究进展题录[J].中华流行病学杂志,2023,44(7):1146-1150.
作者姓名:赵禹碹  宋明钰  余灿清  吕筠  李立明  孙点剑一
作者单位: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
基金项目:国家自然科学基金(82103920)
摘    要:嵌合染色体变异(mCA)指体细胞突变大规模发生在染色体上使体内有多种核型细胞系的现象, 被视为人类衰老表型之一。mCA与血液系统癌症、心脑血管疾病等多种慢性病存在关联, 但mCA自身的遗传基础(遗传易感位点等)尚在探索。本文对基于大型人群的常染色体mCA、性染色体mCAY染色体嵌合缺失(mLOY)和X染色体嵌合缺失(mLOX)]的全基因组关联研究进行综述。其中, 常染色体mCA研究发现的遗传易感位点多与拷贝数中性杂合性缺失类型关联;性染色体mCA的研究多聚焦于嵌合缺失突变, mLOY遗传易感位点数目较多(最多达156个), 而mLOX遗传易感位点数目则较少。

关 键 词:体细胞嵌合  嵌合染色体变异  慢性病  全基因组关联研究
收稿时间:2023/1/5 0:00:00

Progress on genome-wide association studies on mosaic chromosomal alterations
Zhao Yuxuan,Song Mingyu,Yu Canqing,Lyu Jun,Li Liming,Sun Dianjianyi.Progress on genome-wide association studies on mosaic chromosomal alterations[J].Chinese Journal of Epidemiology,2023,44(7):1146-1150.
Authors:Zhao Yuxuan  Song Mingyu  Yu Canqing  Lyu Jun  Li Liming  Sun Dianjianyi
Institution:Key Laboratory of Epidemiology of Major Diseases, Ministry of Education/Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China;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
Abstract:Mosaic chromosomal alteration (mCA) is referred to as large-scale somatic mutations on chromosomes, which results in diverse karyotypes in body. The mCA is regarded as one of the phenotypes of aging. Studies have revealed its associations with many chronic diseases such as hematopoietic cancers and cardiovascular diseases, but its genetic basis (e.g. genetic susceptibility variants) is still under-investigated. This paper reviews GWAS studies for mCA on autosomal chromosomes and sex chromosomesmosaic loss of the Y chromosome (mLOY) and mosaic loss of the X chromosome (mLOX)] based on large population, respectively. Most of the genetic susceptibility loci found in studies for autosomal mCA were associated with copy-neutral loss of heterozygosity. The study of sex chromosome mCA focused on mosaic loss mutations. The number of genetic susceptibility loci for mLOY was high (up to 156), but it was relatively less for mLOX.
Keywords:Somatic mosaicism  Mosaic chromosomal alteration  Chronic disease  Genome-wide association study
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