The DOI matches its Crossref record; 64 of the 65 references it cites were found in a registry or an index.
Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease
Open accessAbstract
Men have a shorter life expectancy compared with women but the underlying factor(s) are not clear. Late-onset, sporadic Alzheimer disease (AD) is a common and lethal neurodegenerative disorder and many germline inherited variants have been found to influence the risk of developing AD. Our previous results show that a fundamentally different genetic variant, i.e., lifetime-acquired loss of chromosome Y (LOY) in blood cells, is associated with all-cause mortality and an increased risk of non-hematological tumors and that LOY could be induced by tobacco smoking. We tested here a hypothesis that men with LOY are more susceptible to AD and show that LOY is associated with AD in three independent studies of different types. In a case-control study, males with AD diagnosis had higher degree of LOY mosaicism (adjusted odds ratio = 2.80, p = 0.0184, AD events = 606). Furthermore, in two prospective studies, men with LOY at blood sampling had greater risk for incident AD diagnosis during follow-up time (hazard ratio [HR] = 6.80, 95% confidence interval [95% CI] = 2.16-21.43, AD events = 140, p = 0.0011). Thus, LOY in blood is associated with risks of both AD and cancer, suggesting a role of LOY in blood cells on disease processes in other tissues, possibly via defective immunosurveillance. As a male-specific risk factor, LOY might explain why males on average live shorter lives than females.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“However, there is conflicting evidence regarding the impact of CH on Alzheimer’s disease (AD).5,10”
From TET2-mutant myeloid cells mitigate Alzheimer’s disease progression via CNS infiltration and enhanced phagocytosis in mice (2025) · cites this paper as [10]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Mosaic chromosomal alterations, including loss of the Y chromosome (LOY), are strongly associated with cardiovascular disease, stroke, and dementia risk [34,44,45].”
From Clonal Hematopoiesis of Indeterminate Potential as an Emerging Interdisciplinary Risk Factor in Alzheimer’s Disease: Current Evidence and Future Directions (2026) · cites this paper as [45]
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
R: A Language and Environment for Statistical Computing
R Core Team (2000) · doi:10.32614/r.manuals · Cited by 355,893
Fast and accurate short read alignment with Burrows-Wheeler transform
Li, H., & Durbin, R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp324 · Cited by 58,607
McKhann, G., Drachman, D., Folstein, M., Katzman, R., Price, D., & Stadlan, E. M. (1984) · Neurology · doi:10.1212/wnl.34.7.939 · Cited by 27,915
The Amyloid Hypothesis of Alzheimer’s Disease: Progress and Problems on the Road to Therapeutics
Hardy, J., & Selkoe, D. J. (2002) · Science · doi:10.1126/science.1072994 · Cited by 13,864
Amyloid oligomers exacerbate tau pathology in a mouse model of tauopathy
Selenica, M.-L. B., Brownlow, M., Jimenez, J. P., Lee, D. C., Pena, G., Dickey, C. A., Gordon, M. N., & Morgan, D. (2013) · Neurodegenerative Diseases · doi:10.1159/000337230 · Cited by 10,359
Age-related clonal hematopoiesis associated with adverse outcomes
Jaiswal, S., Fontanillas, P., Flannick, J., Manning, A., Grauman, P. V., Mar, B. G., Lindsley, R. C., Mermel, C. H., Burtt, N., Chavez, A., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1408617 · Cited by 4,841
Meta-Analysis of 74,046 Individuals Identifies 11 New Susceptibility Loci for Alzheimer’s Disease
(EADI), E. A. D. I., Lambert, J.-C., (GERAD), G. A. E. R. I. A. D., Alzheimer's Disease Genetic Consortium (ADGC), (CHARGE), C. F. H. A. A. R. I. G. E., Ibrahim-Verbaas, C. A., Harold, D., Naj, A. C., Sims, R., Bellenguez, C., et al. (2013) · Nature Genetics · doi:10.1038/ng.2802 · Cited by 4,336
Self-citationClonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence
Genovese, G., Kähler, A. K., Handsaker, R. E., Lindberg, J., Rose, S. A., Bakhoum, S. F., Chambert, K., Mick, E., Neale, B. M., Fromer, M., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1409405 · Cited by 3,531
Harold, D., Abraham, R., Hollingworth, P., Sims, R., Gerrish, A., Hamshere, M. L., Pahwa, J. S., Moskvina, V., Dowzell, K., Williams, A., et al. (2009) · Nature Genetics · doi:10.1038/ng.440 · Cited by 3,326
TREM2 Variants in Alzheimer's Disease
Guerreiro, R., Wojtas, A., Bras, J., Carrasquillo, M., Rogaeva, E., Majounie, E., Cruchaga, C., Sassi, C., Kauwe, J. S. K., Younkin, S., et al. (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1211851 · Cited by 3,020
Self-citation
Flagged first, then by citations
1 of the 65 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Items 101–200 of 268
Deschepper, C. F. (2020) · Scientific Reports · doi:10.1038/s41598-020-71447-3 · Cited by 21
Y chromosome is moving out of sex determination shadow
Heydari, R., Jangravi, Z., Maleknia, S., Seresht‐Ahmadi, M., Bahari, Z., Salekdeh, G. H., & Meyfour, A. (2022) · Cell & Bioscience · doi:10.1186/s13578-021-00741-y · Cited by 18
A strategic research alliance: Turner syndrome and sex differences
Roman, A. K. S., & Page, D. C. (2019) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31677 · Cited by 16
Challenges in LncRNA Biology: Views and Opinions
Adjeroh, D., Zhou, X., Paschoal, A. R., Dimitrova, N., Derevyanchuk, E. G., Shkurat, T. P., Loeb, J. A., Martínez, I., & Lipovich, L. (2024) · Non-Coding RNA · doi:10.3390/ncrna10040043 · Cited by 15
Investigation of human aging at the single-cell level
Li, Y., Wang, Q., Xuan, Y., Zhao, J., Li, J., Tian, Y., Chen, G., & Tan, F. (2024) · Ageing Research Reviews · doi:10.1016/j.arr.2024.102530 · Cited by 16
A polygenic risk score predicts mosaic loss of chromosome Y in circulating blood cells
Riaz, M., Mattisson, J., Polekhina, G., Bakshi, A., Halvardson, J., Danielsson, M., Ameur, A., McNeil, J. J., Forsberg, L. A., & Lacaze, P. A. (2021) · Cell & Bioscience · doi:10.1186/s13578-021-00716-z · Cited by 15
Self-citationSex differences in neuroimmunoendocrine communication. Involvement on longevity
Suárez, L. M., Cerro, E. D., Félix, J., González-Sánchez, M., Ceprián, N., Guerra‐Pérez, N., Novelle, M. G., de Toda, I. M., & la Fuente, M. D. (2023) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2023.111798 · Cited by 17
Mendivil‐Perez, M., Velez‐Pardo, C., Kosik, K. S., Lopera, F. J., & Jiménez-Del-Río, M. (2019) · Neuroscience Letters · doi:10.1016/j.neulet.2019.03.032 · Cited by 15
Chromosome Y loss and drivers of clonal hematopoiesis in myelodysplastic syndrome
Baliakas, P., & Forsberg, L. A. (2021) · Haematologica · doi:10.3324/haematol.2020.266601 · Cited by 15
Self-citationInvestigation of LOY in Prostate, Pancreatic, and Colorectal Cancers in males: A case–control study
Asim, A., Agarwal, S., Avasthi, K. K., Sureka, S. K., Rastogi, N., Dean, D. D., & Mohindra, S. (2020) · Expert Review of Molecular Diagnostics · doi:10.1080/14737159.2020.1853528 · Cited by 14
Clonal hematopoiesis due to mosaic chromosomal alterations: Impact on disease risk and mortality
Hubbard, A. K., Brown, D. W., & Machiela, M. J. (2023) · Leukemia Research · doi:10.1016/j.leukres.2023.107022 · Cited by 14
Modeling specific aneuploidies: from karyotype manipulations to biological insights
Truong, M. A., Cané‐Gasull, P., & Lens, S. M. A. (2023) · Chromosome Research · doi:10.1007/s10577-023-09735-7 · Cited by 16
Noveski, P., Terzic, M., Vujović, M., Kuzmanovska, M., Stefanovska, E. S., & Plaseska‐Karanfilska, D. (2019) · PLoS ONE · doi:10.1371/journal.pone.0221227 · Cited by 14
A New Perspective on the Origin of DNA Double-Strand Breaks and Its Implications for Ageing
Tripathy, B. K., Pal, K., Shabrish, S., & Mittra, I. (2021) · Genes · doi:10.3390/genes12020163 · Cited by 13
Cytokine Storm as a Cellular Response to dsDNA Breaks: A New Proposal
Shabrish, S., & Mittra, I. (2021) · Frontiers in Immunology · doi:10.3389/fimmu.2021.622738 · Cited by 14
Łysiak, M., Smits, A., Roodakker, K. R., Sandberg, E., Dimberg, A., Mudaisi, M., Bratthäll, C., Strandéus, M., Milos, P., Hallbeck, M., et al. (2021) · Cancers · doi:10.3390/cancers13071619 · Cited by 14
Somatic loss of the Y chromosome is associated with arsenic exposure among Bangladeshi men
Demanelis, K., Delgado, D. A., Lin, T., Jasmine, F., Ahmed, A., Islam, T., Parvez, F., Kibriya, M. G., Graziano, J. H., Ahsan, H., et al. (2022) · International Journal of Epidemiology · doi:10.1093/ije/dyac176 · Cited by 15
Social, Behavioral, and Clinical Risk Factors Are Associated with Clonal Hematopoiesis
Young, C. D., Hubbard, A. K., Saint‐Maurice, P. F., Chan, I. C. C., Cao, Y., Tran, D., Bolton, K. L., Chanock, S. J., Matthews, C. E., Moore, S. C., et al. (2024) · Cancer Epidemiology Biomarkers & Prevention · doi:10.1158/1055-9965.epi-24-0620 · Cited by 13
Sexual dimorphism in immunity and longevity among the oldest old
Arakelyan, N. A., Kupriyanova, D. A., Vasiļevska, J., & Rogaev, E. I. (2025) · Frontiers in Immunology · doi:10.3389/fimmu.2025.1525948 · Cited by 14
Uchiyama, S., Ishikawa, Y., Ikari, K., Honda, S., Hikino, K., Tanaka, E., Kamatani, Y., Gono, T., Genovese, G., Kuwana, M., et al. (2025) · Annals of the Rheumatic Diseases · doi:10.1016/j.ard.2025.01.034 · Cited by 13
Bjurling, J., Chavkin, N. W., Halvardson, J., Thel, M. C., Mattisson, J., Kim, J. S., Zaghlool, A., Ma, S., Martínez, F. J., Anstrom, K. J., et al. (2025) · Communications Medicine · doi:10.1038/s43856-025-00966-9 · Cited by 13
Self-citationY Chromosome Genomic Variations and Biological Significance in Human Diseases and Health
Kuroki, Y., & Fukami, M. (2023) · Cytogenetic and Genome Research · doi:10.1159/000531933 · Cited by 13
Fedder, J., Fagerberg, C. R., Jørgensen, M. W., Gravholt, C. H., Berglund, A., Knudsen, U. B., & Skakkebaek, A. H. (2023) · Basic and Clinical Andrology · doi:10.1186/s12610-023-00212-z · Cited by 14
Guan, X., Meng, X., Zhong, G., Zhang, Z., Wang, C., Xiao, Y., Fu, M., Zhao, H., Zhou, Y., Hong, S., et al. (2024) · Journal of Hazardous Materials · doi:10.1016/j.jhazmat.2024.134315 · Cited by 13
Mosaic loss of Y chromosome and the association to mortality in Danish men aged 56–100 years
Hozakowska-Roszkowska, D. M., Mengel‐From, J., Hristozova, T. K., Pedersen, J. K., Jeune, B., Andersen‐Ranberg, K., Hjelmborg, J., Christensen, K., Röttger, R., & Nygaard, M. (2024) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2024.111979 · Cited by 13
Sex-limited chromosomes and non-reproductive traits
Cīrulis, A., Hansson, B., & Abbott, J. K. (2022) · BMC Biology · doi:10.1186/s12915-022-01357-5 · Cited by 12
Clonal Hematopoiesis in Cancer and Cardiovascular Disease
Evans, M. A., & Walsh, K. X. (2025) · JACC CardioOncology · doi:10.1016/j.jaccao.2025.06.006 · Cited by 14
Seto, M., Clifton, M. J., Gomez, M. L., Coughlan, G., Gifford, K. A., Jefferson, A. L., Jager, P. L. D., Bennett, D. A., Wang, Y., Barnes, L. L., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-64525-5 · Cited by 15
CRISPR/Cas9 mediated Y-chromosome elimination affects human cells transcriptome
Celli, L., Gasparini, P., Biino, G., Zannini, L., & Cardano, M. (2024) · Cell & Bioscience · doi:10.1186/s13578-024-01198-5 · Cited by 16
Stańkowska, W., Sarkisyan, D., Bruhn‐Olszewska, B., Duzowska, K., Bieńkowski, M., Jąkalski, M., Wójcik, M., Davies, H., Drężek-Chyła, K., Pęksa, R., et al. (2024) · Cancers · doi:10.3390/cancers16050961 · Cited by 11
Self-citationTelenti, A., Perkins, B. A., & Venter, J. C. (2016) · Cell Metabolism · doi:10.1016/j.cmet.2016.06.002 · Cited by 12
Loss of Y chromosome at the interface between aging and Alzheimer’s disease
Guo, X. (2021) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-021-03935-2 · Cited by 11
Loss of Y Chromosome and Major Cardiovascular Events in a Prospective Study of Older Men
Hussain, M., Bjurling, J., Yu, C., Tonkin, A. M., Reid, C. M., Tran, C., Fransquet, P., Halvardson, J., Curtis, D. J., McQuilten, Z., et al. (2026) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2025.10.069 · Cited by 11
Self-citationGuo, X., Li, J., Xue, J., Fenech, M. F., & Wang, X. (2021) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2021.108389 · Cited by 12
Mosaic loss of chromosome Y and cardiovascular disease
Sano, S., & Walsh, K. (2023) · Nature Reviews Cardiology · doi:10.1038/s41569-023-00976-x · Cited by 11
Clinical and Therapeutic Implications of Clonal Hematopoiesis
Petrone, G. E. M., Turker, I., Natarajan, P., & Bolton, K. L. (2024) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-120722-100409 · Cited by 11
Cremer, S., von Scheidt, M., Kirschbaum, K., Tombor, L. S., Mas‐Peiró, S., Abplanalp, W. T., Rasper, T., Ware, A. P., Schuff, A., Berkowitsch, A., et al. (2025) · European Journal of Heart Failure · doi:10.1002/ejhf.3778 · Cited by 11
Serum biomarkers are altered in UK Biobank participants with mosaic chromosomal alterations
Hubbard, A. K., Brown, D. W., Zhou, W., Lin, S., Genovese, G., Chanock, S. J., & Machiela, M. J. (2023) · Human Molecular Genetics · doi:10.1093/hmg/ddad133 · Cited by 11
Shwab, E. K., Pathak, G. A., Harvey, J., Belloy, M. E., Fischer, C. E., Lutz, M. W., Scholz, S. W., Cook, N., Reid, D. M., Chen, J., et al. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70549 · Cited by 12
Filipowicz, N. H., Drężek-Chyła, K., Horbacz, M., Wojdak, A., Szymanowski, J., Rychlicka-Buniowska, E., Juhas, U., Duzowska, K., Nowikiewicz, T., Stańkowska, W., et al. (2022) · PLoS ONE · doi:10.1371/journal.pone.0266111 · Cited by 11
Self-citationMosaic Loss of Y Chromosome in White Blood Cells: Its Impact on Men’s Health
Sano, S., Thel, M. C., & Walsh, K. X. (2023) · Physiology · doi:10.1152/physiol.00008.2023 · Cited by 9
Rats exhibit age-related mosaic loss of chromosome Y
Orta, A. H., Bush, S. J., Gutiérrez-Mariscal, M., Castro‐Obregón, S., Jaimes-Hoy, L., Grande, R., Vázquez, G., Gorostieta-Salas, E., Martínez-Pacheco, M., Díaz-Barba, K., et al. (2021) · Communications Biology · doi:10.1038/s42003-021-02936-y · Cited by 10
Advances in understanding the molecular basis of clonal hematopoiesis
Alagpulinsa, D. A., Toribio, M. P., Alhallak, I., & Reis, R. J. S. (2022) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2022.03.002 · Cited by 11
Kirsch‐Volders, M., & Fenech, M. F. (2023) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2023.108474 · Cited by 10
More than the SRY: The Non-Coding Landscape of the Y Chromosome and Its Importance in Human Disease
Westemeier-Rice, E. S., Winters, M. T., Rawson, T. W., & Martínez, I. (2024) · Non-Coding RNA · doi:10.3390/ncrna10020021 · Cited by 9
Jakubek, Y. A., Smith, A. P., Leng, X. I., Hall, M. E., Ezzat, D., Pershad, Y., Collins, J. M., Uddin, M. M., Fardo, D. W., Natarajan, P., et al. (2025) · Alzheimer's & Dementia · doi:10.1002/alz.70737 · Cited by 9
Rzechorzek, N. M., Saunders, O. M., Hiscox, L. V., Schwarz, T., Marioni‐Henry, K., Argyle, D. J., Schoenebeck, J. J., & Freeman, T. C. (2019) · Scientific Reports · doi:10.1038/s41598-019-48446-0 · Cited by 9
Reply to ‘Mosaic loss of chromosome Y in leukocytes matters’
Zhou, W., Machiela, M. J., Freedman, N. D., Rothman, N., Malats, N., Dagnall, C. L., Caporaso, N. E., Teras, L. T., Gaudet, M. M., Gapstur, S. M., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0310-x · Cited by 9
Sun, M., Cyr, M., Sandoval, J., Perreault, L. L., Busque, L., Tardif, J., & Dubé, M. (2023) · Cancer Epidemiology Biomarkers & Prevention · doi:10.1158/1055-9965.epi-22-1290 · Cited by 8
Thel, M. C., Cochran, J. D., Teruya, S. L., Hayashi, O., Xie, C. R., Srinivasan, A. R., Chavkin, N. W., Arai, Y., Sano, S., Santos, A. M., et al. (2024) · Circulation Heart Failure · doi:10.1161/circheartfailure.124.011681 · Cited by 8
Zhou, W., Huang, W., Freedman, N. D., & Machiela, M. J. (2025) · BMC Bioinformatics · doi:10.1186/s12859-025-06076-6 · Cited by 7
Strategies for studying sex differences in brain aging
Ansere, V. A., Kim, S., Marino, F., Morillo, K. S., Dubal, D. B., Murphy, C. T., Suh, Y., & Benayoun, B. A. (2025) · Trends in Genetics · doi:10.1016/j.tig.2025.02.001 · Cited by 7
Petzinna, S. M., Kirch, S., Adamson, M. S., Xi, D., Bauer, C.-J., Kreis, L., Gheitasi, R., Karakostas, P., Behrendt, R., Nickenig, G., et al. (2025) · Annals of the Rheumatic Diseases · doi:10.1016/j.ard.2025.06.2133 · Cited by 9
Jiang, L., Song, M.-Y., Song, F., Zhou, Y.-X., Yao, H., Li, G.-Q., & Luo, H.-B. (2023) · BMC Psychiatry · doi:10.1186/s12888-023-04929-z · Cited by 7
Myelodysplastic syndromes: advantages of a combined cytogenetic and molecular diagnostic workup
Ciabatti, E., Valetto, A., Bertini, V., Ferreri, M. I., Guazzelli, A., Grassi, S., Guerrini, F., Petrini, I., Metelli, M. R., Caligo, M. A., et al. (2017) · Oncotarget · doi:10.18632/oncotarget.16578 · Cited by 7
Suzuki, E., Kobori, Y., Katsumi, M., Ushijima, K., Uchiyama, T., Okada, H., Miyado, M., & Fukami, M. (2020) · Reproductive Medicine and Biology · doi:10.1002/rmb2.12321 · Cited by 7
Loss of Chromosome Y in Leukocytes and Major Cardiovascular Events
Dumanski, J. P., Sundström, J., & Forsberg, L. A. (2017) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.117.001820 · Cited by 7
Self-citationA complex systems approach to mosaic loss of the Y chromosome
Guo, X., & Dai, X. (2024) · GeroScience · doi:10.1007/s11357-024-01468-7 · Cited by 6
Ma, T., Zhu, C., Cheng, X.-J., Huang, Y.-F., Li, J.-C., Tan, Y., & Bai, Y. (2025) · JACC: Basic to Translational Science · doi:10.1016/j.jacbts.2024.10.012 · Cited by 6
Impact of Y chromosome loss on the risk of Parkinson's disease and progression
Wang, J., Chen, X., Du, W., Lin, C., Yu, L., Corvol, J., Maple‐Grødem, J., Campbell, M. C., Elbaz, A., Lesage, S., et al. (2025) · EBioMedicine · doi:10.1016/j.ebiom.2025.105769 · Cited by 6
MosCoverY: A method to estimate mosaic loss of Y chromosome from sequencing coverage data
Timonina, V., Marchal, A., Abel, L., Cobat, A., & Fellay, J. (2025) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2025.08.016 · Cited by 7
Hirata, W., Tomoda, T., Yuri, S., & Isotani, A. (2021) · EXPERIMENTAL ANIMALS · doi:10.1538/expanim.21-0119 · Cited by 6
Johansson, M., Pedersen, A., Cole, J. W., Lagging, C., Lindgren, A., Maguire, J. M., Rost, N. S., Söderholm, M., Worrall, B. B., Stanne, T. M., et al. (2021) · Neurology Genetics · doi:10.1212/nxg.0000000000000634 · Cited by 6
Mosaic loss of the Y chromosome in human neurodegenerative and oncological diseases
Kuznetsova, I. L., Uralsky, L. I., Tyazhelova, T. V., Андреева, Т. В., & Рогаев, Е. И. (2023) · Vavilov Journal of Genetics and Breeding · doi:10.18699/vjgb-23-61 · Cited by 6
Jąkalski, M., Bruhn‐Olszewska, B., Rychlicka-Buniowska, E., Davies, H., Sarkisyan, D., Siedlar, M., Baran, J., Węglarczyk, K., Jaszczyński, J., Ryś, J., et al. (2025) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-025-05618-8 · Cited by 6
Self-citationEvaluation of the usefulness of saliva for mosaic loss of chromosome Y analysis
Hachiya, T., Kobayashi, T., Tsutae, W., Gan, P. H. P., Baran, I. S., & Horie, S. (2021) · Scientific Reports · doi:10.1038/s41598-021-83308-8 · Cited by 6
Thompson, D. J., Genovese, G., Halvardson, J., Ulirsch, J. C., Wright, D. J., Terao, C., Davidsson, O. B., Day, F. R., Sulem, P., Jiang, Y., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/514026 · Cited by 7
Self-citationSu, W., Duan, Q., He, S.-Y., Liu, R., Wen, X.-J., Zhang, N., Chen, T., Cao, B., & Chen, Y. (2025) · BMC Medicine · doi:10.1186/s12916-025-04594-x · Cited by 5
Genetic predisposition to mosaic Y chromosome loss in blood.
Thompson, D. J., Genovese, G., Halvardson, J., Ulirsch, J. C., Wright, D. J., Terao, C. C., Davidsson, O. B., Day, F. R., Sulem, P., Jiang, Y., et al. (2019) · Apollo (University of Cambridge) · doi:10.17863/cam.42407 · Cited by 5
Self-citationDevelopment of a Mouse Model of Hematopoietic Loss of Y Chromosome
Sano, S., & Walsh, K. (2023) · BIO-PROTOCOL · doi:10.21769/bioprotoc.4729 · Cited by 5
Y chromosome proteins in female tissues
Gelfand, B. D., & Ambati, J. (2023) · Science · doi:10.1126/science.ade7187 · Cited by 5
A Pangenomic Method for Establishing a Somatic Variant Detection Resource in HapMap MixturesPreprint
Kong, N., Tang, Z., Ruttenberg, A., Macias-Velasco, J. F., Li, Z., Zhang, W., Miao, B., Xin, Z., Fu, Q., Park, H., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.09.29.679336 · Cited by 5
Zhao, C., Huang, Y., Ma, T., Cheng, X., Li, J., Zhang, G., Bai, Y., & Tan, Y. (2025) · Journal of Advanced Research · doi:10.1016/j.jare.2025.06.001 · Cited by 4
The Immunological Consequences of Clonal Hematopoiesis in Heart Failure
Evans, M. A., & Walsh, K. X. (2026) · Immunological Reviews · doi:10.1111/imr.70094 · Cited by 6
Sato, G., Yamamoto, Y., Sonehara, K., Saiki, R., Ojima, T., Kanai, M., Liu, A., Edahiro, R., Shirai, Y., Namba, S., et al. (2026) · Nature Medicine · doi:10.1038/s41591-026-04213-z · Cited by 6
Beyond sex determination: the Y chromosome in male cancers
Abdel-Hafiz, H. A., Hoelzen, L., & Theodorescu, D. (2026) · Nature reviews. Cancer · doi:10.1038/s41568-026-00935-x · Cited by 6
Kobayashi, T., Hachiya, T., Lü, Y., Ikehata, Y., China, T., Kawano, H., Nagata, M., Ide, H., Isotani, S., Nojiri, S., et al. (2025) · npj Aging · doi:10.1038/s41514-025-00261-w · Cited by 4
The impact of mosaic loss of the Y chromosome (mLOY) in men of advanced age
Abdallah, F. A., Massih, C. A., Attieh, C., & Chebly, A. (2024) · Biogerontology · doi:10.1007/s10522-024-10133-7 · Cited by 4
Forsberg, L. A. (2018) · European Journal of Human Genetics · doi:10.1038/s41431-018-0261-9 · Cited by 4
Self-citationSomatic Loss of the Y Chromosome and Alzheimer’s Disease RiskPreprint
Palmer, E. L., Benchek, P. H., Wheeler, N. R., Smieszek, S. P., Naj, A. C., Haines, J. L., Pericak‐Vance, M. A., Forsberg, L. A., Cukier, H. N., Song, Y. E., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.11.14.516433 · Cited by 4
Self-citationMosaic chromosomal alterations in blood are associated with an increased risk of Alzheimer’s disease
Naito, T., Hirata, K., Jang, B., Lakhani, C. M., Buonfiglioli, A., Lee, W.-P., Valladares, O., Wang, L.-S., Okada, Y., Won, H.-H., et al. (2025) · doi:10.1101/2025.05.29.25328544 · Cited by 4
Y-chromosome alteration and its impact on cancer progression and metastasis
King, S. A., Jahan, M., Prabhakaraalva, P., Zaman, N., Chaudhary, S., Kyprianou, N., Tewari, A. K., & Chakraborty, G. (2025) · Cellular & Molecular Biology Letters · doi:10.1186/s11658-025-00812-9 · Cited by 4
Loss of Y chromosome in Alzheimer’s patients co-occurs with somatic mutations beyond CHIP drivers
Rychlicka-Buniowska, E., Sarkisyan, D., Horbacz, M., Bruhn‐Olszewska, B., Drężek-Chyła, K., Koszyński, M., Davies, H., Juhas, U., Wójcik, M., Klich‐Rączka, A., et al. (2025) · Life Science Alliance · doi:10.26508/lsa.202503533 · Cited by 3
Self-citationHuman Y chromosome pan-organ mapping reveals progressive mosaic loss from normal to cancer
Gertych, A., Ye, H., Chen, X., Vail, E., Ramanujan, V. K., Brady, L., True, L. D., Nelson, P. S., Carroll, P. R., & Theodorescu, D. (2026) · JCI Insight · doi:10.1172/jci.insight.201996 · Cited by 3
Loss of the Y chromosome in coronary artery disease
Sano, S., & Walsh, K. (2025) · European Heart Journal · doi:10.1093/eurheartj/ehaf072 · Cited by 3
Lin, S., Wang, Y., Hartley, S. W., Karyadi, D. M., Lee, O. W., Zhu, B., Zhou, W., Brown, D. W., Beilstein-Wedel, E. E., Hazra, R., et al. (2021) · AIDS · doi:10.1097/qad.0000000000002894 · Cited by 3
Body structural and cellular aging of women with low socioeconomic status in Hungary: A pilot study
Annár, D., Fehér, P., Madarasi, A., Mascie-Taylor, N., Kékesi, A., Kalabiska, I., Muzsnai, Á., & Zsákai, A. (2021) · American Journal of Human Biology · doi:10.1002/ajhb.23662 · Cited by 3
Danielsson, M., Halvardson, J., Davies, H., Moghadam, B. T., Mattisson, J., Rychlicka-Buniowska, E., Jaszczyński, J., Heintz, J., Lannfelt, L., Giedraitis, V., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/631713 · Cited by 3
Self-citationOlney, K. C., Brotman, S. M., Andrews, J. P., Valverde-Vesling, V. A., & Wilson, M. A. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/668376 · Cited by 3
García‐González, P., de Rojas, I., Moreno–Grau, S., Montrreal, L., Puerta, R., Alarcón‐Martín, E., Quintela, I., Orellana, A., Andrade, V., Adami, P. V. M., et al. (2022) · medRxiv · doi:10.1101/2022.07.20.22277657 · Cited by 3
Lost but not least: Y chromosome loss as a driver of cancer
Corchete, L. A., & Rheinbay, E. (2025) · Trends in cancer · doi:10.1016/j.trecan.2025.11.009 · Cited by 3
Clinicopathological significance of loss of Y chromosome in male meningiomas
Sakaguchi, M., Horie, M., Ito, Y., Tanaka, S., Ikeda, H., Nakada, M., Yoshizawa, A., & Maeda, D. (2026) · The Journal of Pathology · doi:10.1002/path.70040 · Cited by 2
Mosaic loss of Y chromosome associates with lung function, emphysema, and epigenetic aging
Saw, W., Kim, K., Huang, Y., Yun, J. H., Ma, X., Bacon, J., Pershad, Y., Levy, D. A., O’Connor, G. T., Boerwinkle, E., et al. (2026) · American Journal of Respiratory and Critical Care Medicine · doi:10.1093/ajrccm/aamag120 · Cited by 4
Pinto‐Benito, D., Bautista-Abad, Á., Lagunas, N., Ontiveros, N., Ganchala, D., García‐Segura, L. M., Arévalo, M., & Grassi, D. (2024) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2024.167532 · Cited by 2
Loss of Y is associated with multi-omic changes in immune cells from Alzheimer’s disease patientsPreprint
Jąkalski, M., Rychlicka-Buniowska, E., Davies, H., Sarkisyan, D., Siedlar, M., Baran, J., Węglarczyk, K., Jaszczyński, J., Ryś, J., Gedraitis, V., et al. (2023) · medRxiv · doi:10.1101/2023.02.07.23285520 · Cited by 2
Self-citationLoss of chromosome Y in regulatory T cellsPreprint
Mattisson, J., Halvardson, J., Davies, H., Bruhn‐Olszewska, B., Olszewski, P., Danielsson, M., Bjurling, J., Lindberg, A., Zaghlool, A., Rychlicka-Buniowska, E., et al. (2023) · medRxiv · doi:10.1101/2023.06.17.23291316 · Cited by 2
Self-citationLoss of chromosome Y shapes the immune cell fate with aging in menPreprint
Dawoud, A. A. Z., Green, L., & Rackham, O. J. L. (2025) · medRxiv · doi:10.1101/2025.06.01.25328624 · Cited by 2
Mosaic Loss of Y chromosome associates with lung function, emphysema and epigenetic agingPreprint
Saw, W., Kim, K., Huang, Y., Yun, J. H., Ma, X., Bacon, J., Pershad, Y., Levy, D. A., O’Connor, G. T., Boerwinkle, E., et al. (2025) · medRxiv · doi:10.1101/2025.07.30.25332379 · Cited by 2
Frailty, mosaic loss of Y chromosome, and mortality in older Chinese males
Wu, T., You, Y., Zhou, Y., Hong, S., Bai, Y., & Guo, H. (2025) · The Journals of Gerontology Series A · doi:10.1093/gerona/glaf178 · Cited by 1
Han, R., Poell, J. B., Conde‐López, C., Salo, T. A., Kurth, I., Brakenhoff, R. H., & Heß, J. (2025) · Head & Neck · doi:10.1002/hed.70070 · Cited by 1
Metadata
- Authors
- Dumanski, J. P., Lambert, J.-C., Rasi, C., Giedraitis, V., Davies, H., Grenier-Boley, B., Lindgren, C. M., Campion, D., Dufouil, C., Pasquier, F., Amouyel, P., Lannfelt, L., Ingelsson, M., Kilander, L., Lind, L., & Forsberg, L. A.
- Affiliations
- Uppsala University (SE)
- Inserm (FR)
- Broad Institute (US)
- Corresponding author
- Dumanski, Jan P.
- Forsberg, Lars A.
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2016-06
- Volume
- 98
- Issue
- 6
- Pages
- 1208-1219
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC4908225
- OpenAlex
- W2403642712
- Cited by
- 266
- References
- 65
- Citations by year
- 2026: 35 · 2025: 42 · 2024: 33 · 2023: 33 · 2022: 22 · 2021: 33 · 2020: 19 · 2019: 22 · 2018: 14 · 2017: 10 · 2016: 3
- FWCI
- 14.51
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Uppsala University Publications (Uppsala University) (submittedVersion, other-oa)
- Funders
- Wellcome Trust (WT098017, 086596, 086596/Z/08/Z, WT064890, WT090532)
- Development of Innovative Strategies for a Transdisciplinary approach to ALZheimer's disease
- Agence Nationale de la Recherche (ANR-11-LABX-0009)
- Cancerfonden
- Hjärt-Lungfonden
- Vetenskapsrådet
- Akademiska Sjukhuset
- Uppsala Universitet
- Science for Life Laboratory
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Keywords
- Y chromosome mosaicism, Alzheimer's disease, sex differences in mortality, blood cells, cancer risk, immune surveillance, smoking, all-cause mortality
- MeSH terms
- Aged, Aged, 80 and over, Alzheimer Disease, Female, Humans, Longitudinal Studies, Male, Middle Aged, Mosaicism, Prognosis, Prospective Studies, Risk Factors, Case-Control Studies, Polymorphism, Single Nucleotide, Chromosomes, Human, Y
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
