ArticleAmerican journal of human genetics2012
Age-related somatic structural changes in the nuclear genome of human blood cells.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 109 papers, 3 of them syntheses that pooled it.
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Who cites it
109 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Sensitive Period Analysis of Adulthood BMI and Cancer Risk: An Individual Participant Data Meta-Analysis of Over 720,000 Participants in the ABACus 2 Consortium.International journal of cancer · 2026Pooled it
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- Characterization of large structural genetic mosaicism in human autosomes.American journal of human genetics · 2015Pooled it
- Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease.American journal of human genetics · 2016Trial
- Twins, tissue, and time: an assessment of SNPs and CNVs.Twin research and human genetics : the official journal of the International Society for Twin Studies · 2012Trial
- Quantifying rate-limiting genetic variation in breast and ovarian tumourigenesis.EBioMedicine · 2026Article
- DNA methylation patterns contribute to changes of cellular differentiation pathways in leukocytes with LOY from patients with Alzheimer´s disease.Cellular and molecular life sciences : CMLS · 2025Article
- Deletions Rate-Limit Breast and Ovarian Cancer Initiation.bioRxiv : the preprint server for biology · 2024Article
- Association of autosomal mosaic chromosomal alterations with risk of bladder cancer in Chinese adults: a prospective cohort study.Cell death & disease · 2024Article
- Cell-type-specific consequences of mosaic structural variants in hematopoietic stem and progenitor cells.Nature genetics · 2024Article
- Copy Number Variations in Pancreatic Cancer: From Biological Significance to Clinical Utility.International journal of molecular sciences · 2023Review
- Mosaic chromosomal alterations in blood across ancestries using whole-genome sequencing.Nature genetics · 2023Article
- Mutation rates and fitness consequences of mosaic chromosomal alterations in blood.Nature genetics · 2023Article
- Decoding Oncofusions: Unveiling Mechanisms, Clinical Impact, and Prospects for Personalized Cancer Therapies.Cancers · 2023Review
- Somatic Mosaic Chromosomal Alterations and Death of Cardiovascular Disease Causes among Cancer Survivors.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2023Article
- Biomarkers of aging.Science China. Life sciences · 2023Review
- Mosaic loss of Chromosome Y in aged human microglia.Genome research · 2022Article
- Article
- Somatic Mutations and Autoimmunity.Cells · 2021Review
- Incident disease associations with mosaic chromosomal alterations on autosomes, X and Y chromosomes: insights from a phenome-wide association study in the UK Biobank.Cell & bioscience · 2021Article
49 more citing papers are in PubMed but not listed here.
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Authors and funding
28 authors.
Funding
Abstract
Structural variations are among the most frequent interindividual genetic differences in the human genome. The frequency and distribution of de novo somatic structural variants in normal cells is, however, poorly explored. Using age-stratified cohorts of 318 monozygotic (MZ) twins and 296 single-born subjects, we describe age-related accumulation of copy-number variation in the nuclear genomes in vivo and frequency changes for both megabase- and kilobase-range variants. Megabase-range aberrations were found in 3.4% (9 of 264) of subjects ≥60 years old; these subjects included 78 MZ twin pairs and 108 single-born individuals. No such findings were observed in 81 MZ pairs or 180 single-born subjects who were ≤55 years old. Recurrent region- and gene-specific mutations, mostly deletions, were observed. Longitudinal analyses of 43 subjects whose data were collected 7-19 years apart suggest considerable variation in the rate of accumulation of clones carrying structural changes. Furthermore, the longitudinal analysis of individuals with structural aberrations suggests that there is a natural self-removal of aberrant cell clones from peripheral blood. In three healthy subjects, we detected somatic aberrations characteristic of patients with myelodysplastic syndrome. The recurrent rearrangements uncovered here are candidates for common age-related defects in human blood cells. We anticipate that extension of these results will allow determination of the genetic age of different somatic-cell lineages and estimation of possible individual differences between genetic and chronological age. Our work might also help to explain the cause of an age-related reduction in the number of cell clones in the blood; such a reduction is one of the hallmarks of immunosenescence.
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