Progress on genome-wide association studies on mosaic chromosomal alterations.
10.3760/cma.j.cn112338-20230105-00009
- VernacularTitle:嵌合染色体变异全基因组关联研究进展
- Author:
Yu Xuan ZHAO
1
;
Ming Yu SONG
1
;
Can Qing YU
2
;
Jun LYU
2
;
Li Ming LI
2
;
Dian Jian yi SUN
2
Author Information
1. Key Laboratory of Epidemiology of Major Diseases, Ministry of Education/Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China.
2. 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.
- Publication Type:Journal Article
- MeSH:
Humans;
Male;
Genome-Wide Association Study/methods*;
Mosaicism;
Genetic Predisposition to Disease;
Chromosomes, Human, Y;
Mutation
- From:
Chinese Journal of Epidemiology
2023;44(7):1146-1150
- CountryChina
- Language:Chinese
-
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 chromosomes [mosaic 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.
