ArticleEuropean journal of human genetics : EJHG2019
Y chromosome mosaicism is associated with age-related macular degeneration.
Article in European journal of human genetics : EJHG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed, 75 citations in OpenAlex.
- Age-related loss of Y chromosome is associated with mortality after ST-segment elevation myocardial infarction.Communications medicine · 2026Article
- Loss of chromosome Y in hematopoietic cells: mechanisms and implications for human disease.MedScience · 2026Review
- Loss of the Y Chromosome in Oral Potentially Premalignant Disorders Predicts Malignant Progression: An Integrative Cross-Species Multi-Cohort Bioinformatic Study.Head & neck · 2026Article
- Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations.Human genomics · 2025Article
- Generation of two isogenic induced pluripotent stem cell lines derived from a Hispanic individual with Alzheimer's Disease and mosaic for loss of the Y chromosome.Stem cell research · 2025Article
- Prognostic significance of somatic mutations in myeloid cells of men with chronic heart failure - interaction between loss of Y chromosome and clonal haematopoiesis.European journal of heart failure · 2025Article
- The effects of loss of Y chromosome on male health.Nature reviews. Genetics · 2025Review
- Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood.American journal of human genetics · 2025Article
- Age-related cardiovascular disease and mosaic hematopoietic loss of the Y chromosome.The journal of cardiovascular aging · 2025Article
- Relationship Between Loss of Y Chromosome and Urologic Cancers: New Future Perspectives.Cancers · 2024Review
- The impact of mosaic loss of the Y chromosome (mLOY) in men of advanced age.Biogerontology · 2024Review
- Y Chromosome Loss and Implications for Oncology.Molecular cancer research : MCR · 2024Review
- Tissue mosaicism following stem cell aging: blood as an exemplar.Nature aging · 2024Review
- Why Y matters? The implication of loss of Y chromosome in blood and cancer.Cancer science · 2024Review
- Circulating macrophages as the mechanistic link between mosaic loss of Y-chromosome and cardiac disease.Cell & bioscience · 2023Article
- Mosaic Loss of Y Chromosome in White Blood Cells: Its Impact on Men's Health.Physiology (Bethesda, Md.) · 2023Review
- Mosaic loss of Y chromosome in monocytes is associated with lower survival after transcatheter aortic valve replacement.European heart journal · 2023Article
- Chromosomal and gonadal factors regulate microglial sex effects in the aging brain.Brain research bulletin · 2023Review
- Clonal hematopoiesis due to mosaic chromosomal alterations: Impact on disease risk and mortality.Leukemia research · 2023Review
- Clonal hematopoiesis, somatic mosaicism, and age-associated disease.Physiological reviews · 2023Review
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8 authors at 6 institutions in 5 countries.
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Abstract
Age-related macular degeneration (AMD) is the leading cause of blindness in industrialised countries, and thereby a major individual but also a socio-economic burden. Y chromosome loss in nucleated blood cells has been implicated in age-related diseases such as Alzheimer disease and was shown to be caused by increasing age, smoking and genetic factors. Mosaic loss of Y chromosome (mLOY) in peripheral blood was estimated from normalised dosages of genotyping chip data covering the male-specific region of the Y chromosome. After quality control, we assessed the association of mLOY on AMD risk in 5772 male cases and 6732 male controls. In controls the prevalence of mLOY increased significantly with age, which is consistent with previous reports. Importantly, mLOY was associated with late-stage AMD with genome-wide significance (OR: 1.332 [95% CI: 1.206; 1.472], P = 1.60e-08), independent of age, the AMD genetic risk score and the first two principle components of ancestry. Additionally conditioning on smoking behaviour had no influence on the observed association strength. mLOY was strongest associated in individuals aged between 65 and 75 years. Taken together, mLOY is significantly associated with risk for AMD, independent of known and potential confounding factors.
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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.