ArticleCell & bioscience2021
Incident disease associations with mosaic chromosomal alterations on autosomes, X and Y chromosomes: insights from a phenome-wide association study in the UK Biobank.
Article in Cell & bioscience, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
35 citing papers in PubMed, 36 citations in OpenAlex.
- Association of Clonal Hematopoiesis With Incident, Late-Onset, Seropositive Rheumatoid Arthritis.Arthritis & rheumatology (Hoboken, N.J.) · 2026Article
- Beyond sex determination: the Y chromosome in male cancers.Nature reviews. Cancer · 2026Review
- Longitudinal characterization of mosaic chromosomal alterations identifies factors influencing clonal dynamics of leukocytes.Nature communications · 2026Article
- Hematopoietic mosaic chromosomal alterations are pleiotropic drivers of inflammaging, multimorbidity, and mortality.medRxiv : the preprint server for health sciences · 2026Article
- Mosaic loss of Y chromosome associates with lung function, emphysema, and epigenetic aging.American journal of respiratory and critical care medicine · 2026Article
- Clonal haematopoiesis and cardiovascular disease, defining risk, filling gaps, and framing the future.NPJ cardiovascular health · 2026Review
- Co-occurring clonal hematopoiesis exhibits strong selection and high leukemia risk.Nature communications · 2026Article
- Clonal hematopoiesis and its progression to myeloid neoplasms: insights into risk, biology, and therapeutic strategies.Haematologica · 2026Review
- Review
- The association between glyphosate use and mosaic loss of chromosome Y in buccal samples among male pesticide applicators in the Agricultural Health Study.Environment international · 2025Article
- Clonal Hematopoiesis in Cancer and Cardiovascular Disease: JACC: CardioOncology State-of-the-Art Review.JACC. CardioOncology · 2025Review
- Clonal haematopoiesis of indeterminate potential: an emerging risk factor for type 2 diabetes and related complications.Diabetologia · 2025Review
- Genetic drivers and clinical consequences of mosaic chromosomal alterations in 1 million individuals.medRxiv : the preprint server for health sciences · 2025Article
- Estimation of mosaic loss of Y chromosome cell fraction with genotyping arrays lacking coverage in the pseudoautosomal region.BMC bioinformatics · 2025Article
- Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood.American journal of human genetics · 2025Article
- A complex systems approach to mosaic loss of the Y chromosome.GeroScience · 2025Review
- Integrated multiomic analyses: An approach to improve understanding of diabetic kidney disease.Diabetic medicine : a journal of the British Diabetic Association · 2025Review
- Age-related cardiovascular disease and mosaic hematopoietic loss of the Y chromosome.The journal of cardiovascular aging · 2025Article
- Mosaic loss of chromosome Y, tobacco smoking and risk of age-related lung diseases: insights from two prospective cohorts.The European respiratory journal · 2024Article
- Associations Between Mosaic Loss of Sex Chromosomes and Incident Hospitalization for Atrial Fibrillation in the United Kingdom.Journal of the American Heart Association · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundMosaic chromosomal alterations (mCAs) are large chromosomal gains, losses and copy-neutral losses of heterozygosity (LOH) in peripheral leukocytes. While many individuals with detectable mCAs have no notable adverse outcomes, mCA-associated gene dosage alterations as well as clonal expansion of mutated leukocyte clones could increase susceptibility to disease.
resultsWe performed a phenome-wide association study (PheWAS) using existing data from 482,396 UK Biobank (UKBB) participants to investigate potential associations between mCAs and incident disease. Of the 1290 ICD codes we examined, our adjusted analysis identified a total of 50 incident disease outcomes associated with mCAs at PheWAS significance levels. We observed striking differences in the diseases associated with each type of alteration, with autosomal mCAs most associated with increased hematologic malignancies, incident infections and possibly cancer therapy-related conditions. Alterations of chromosome X were associated with increased lymphoid leukemia risk and, mCAs of chromosome Y were linked to potential reduced metabolic disease risk.
conclusionsOur findings demonstrate that a wide range of diseases are potential sequelae of mCAs and highlight the critical importance of careful covariate adjustment in mCA disease association studies.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.