ArticleCell & bioscience2021
A polygenic risk score predicts mosaic loss of chromosome Y in circulating blood cells.
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 9 papers.
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Who cites it
9 citing papers in PubMed, 13 citations in OpenAlex.
- Loss of chromosome Y in hematopoietic cells: mechanisms and implications for human disease.MedScience · 2026Review
- Loss of Y Chromosome and Major Cardiovascular Events in a Prospective Study of Older Men.Journal of the American College of Cardiology · 2026Article
- Mosaic loss of chromosome Y in blood is associated with male susceptibility for idiopathic pulmonary fibrosis.Communications medicine · 2025Article
- The effects of loss of Y chromosome on male health.Nature reviews. Genetics · 2025Review
- Age-related cardiovascular disease and mosaic hematopoietic loss of the Y chromosome.The journal of cardiovascular aging · 2025Article
- The impact of mosaic loss of the Y chromosome (mLOY) in men of advanced age.Biogerontology · 2024Review
- Loss of the Y Chromosome: A Review of Molecular Mechanisms, Age Inference, and Implications for Men's Health.International journal of molecular sciences · 2024Review
- Mendelian Randomisation Confirms the Role of Y-Chromosome Loss in Alzheimer's Disease Aetiopathogenesis in Men.International journal of molecular sciences · 2023Article
- Satellite DNAs and human sex chromosome variation.Seminars in cell & developmental biology · 2022Review
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMosaic loss of Y chromosome (LOY) is the most common somatic change that occurs in circulating white blood cells of older men. LOY in leukocytes is associated with increased risk for all-cause mortality and a range of common disease such as hematological and non-hematological cancer, Alzheimer's disease, and cardiovascular events. Recent genome-wide association studies identified up to 156 germline variants associated with risk of LOY. The objective of this study was to use these variants to calculate a novel polygenic risk score (PRS) for LOY, and to assess the predictive performance of this score in a large independent population of older men.
resultsWe calculated a PRS for LOY in 5131 men aged 70 years and older. Levels of LOY were estimated using microarrays and validated by whole genome sequencing. After adjusting for covariates, the PRS was a significant predictor of LOY (odds ratio [OR] = 1.74 per standard deviation of the PRS, 95% confidence intervals [CI] 1.62-1.86, p < 0.001). Men in the highest quintile of the PRS distribution had > fivefold higher risk of LOY than the lowest (OR = 5.05, 95% CI 4.05-6.32, p < 0.001). Adding the PRS to a LOY prediction model comprised of age, smoking and alcohol consumption significantly improved prediction (AUC = 0.628 [CI 0.61-0.64] to 0.695 [CI 0.67-0.71], p < 0.001).
conclusionsOur results suggest that a PRS for LOY could become a useful tool for risk prediction and targeted intervention for common disease in men.
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