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.
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
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?
There is conflicting evidence regarding the impact of CH on Alzheimer's disease.
“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]
The Results (page unavailable) report that men with Alzheimer’s disease had more mosaic loss of chromosome Y in blood than controls, supporting one finding about a blood-cell clone and AD. The paper does not establish that evidence about clonal hematopoiesis and AD is conflicting; that broader characterization requires other evidence. (LLM, conf=0.83)
Experimental — accuracy not yet measuredMosaic chromosomal alterations, including loss of the Y chromosome, are strongly associated with cardiovascular disease, stroke, and dementia risk.
“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]
The Results (page not available) report a strong association between mosaic loss of the Y chromosome in blood and incident Alzheimer disease in men, supporting the dementia-risk portion of the claim. The paper does not establish the asserted associations with cardiovascular disease or stroke; its Discussion also reports no significant Alzheimer-disease association for the autosomal alterations it examined. (LLM, conf=0.90)
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.
Cites
R: A Language and Environment for Statistical Computing
R Core Team (2000) · doi:10.32614/r.manuals · Cited by 355,706 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
<i>TREM2</i> 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 · see citing works
Self-citationPotential for primary prevention of Alzheimer's disease: an analysis of population-based data
Norton, S., Matthews, F. E., Barnes, D. E., Yaffe, K., & Brayne, C. (2014) · The Lancet Neurology · doi:10.1016/s1474-4422(14)70136-x · Cited by 2,466 · see citing works
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease
the European Alzheimer's Disease Initiative Investigators, Lambert, J.-C., Heath, S., Even, G., Campion, D., Sleegers, K., Hiltunen, M., Combarros, O., Zelenika, D., Bullido, M. J., et al. (2009) · Nature Genetics · doi:10.1038/ng.439 · Cited by 2,234 · see citing works
Self-citationRole of Genes and Environments for Explaining Alzheimer Disease
Gatz, M., Reynolds, C. A., Fratiglioni, L., Johansson, B., Mortimer, J. A., Berg, S., Fiske, A., & Pedersen, N. L. (2006) · Archives of General Psychiatry · doi:10.1001/archpsyc.63.2.168 · Cited by 1,798 · see citing works
21st-Century Hazards of Smoking and Benefits of Cessation in the United States
Jha, P., Ramasundarahettige, C., Landsman, V., Rostron, B., Thun, M., Anderson, R. N., McAfee, T., & Peto, R. (2013) · New England Journal of Medicine · doi:10.1056/nejmsa1211128 · Cited by 1,767 · see citing works
Gene-Wide Analysis Detects Two New Susceptibility Genes for Alzheimer's Disease
Escott-Price, V., Bellenguez, C., Wang, L.-S., Choi, S.-H., Harold, D., Jones, L., Holmans, P., Gerrish, A., Vedernikov, A., Richards, A., et al. (2014) · PLoS ONE · doi:10.1371/journal.pone.0094661 · Cited by 1,398 · see citing works
Self-citationSimard, A. R., Soulet, D., Gowing, G., Julien, J.-P., & Rivest, S. (2006) · Neuron · doi:10.1016/j.neuron.2006.01.022 · Cited by 1,265 · see citing works
Boeva, V., Popova, T. G., Kevin Bleakley, A., Chiche, P., Cappo, J., Schleiermacher, G., Janoueix‐Lerosey, I., Delattre, O., & Barillot, E. (2011) · Bioinformatics · doi:10.1093/bioinformatics/btr670 · Cited by 1,012 · see citing works
APOE and Alzheimer disease: a major gene with semi-dominant inheritance
Genin, E., Hannequin, D., Wallon, D., Sleegers, K., Hiltunen, M., Combarros, O., Bullido, M. J., Engelborghs, S., De Deyn, P., Berr, C., et al. (2011) · Molecular Psychiatry · doi:10.1038/mp.2011.52 · Cited by 714 · see citing works
Self-citation(2003) · Neuroepidemiology · doi:10.1159/000072920 · Cited by 672 · see citing works
Detectable clonal mosaicism from birth to old age and its relationship to cancer
Laurie, C. C., Laurie, C. A., Rice, K., Doheny, K. F., Zelnick, L. R., McHugh, C. P., Ling, H., Hetrick, K. N., Pugh, E. W., Amos, C., et al. (2012) · Nature Genetics · doi:10.1038/ng.2271 · Cited by 594 · see citing works
Detectable clonal mosaicism and its relationship to aging and cancer
Jacobs, K. B., Yeager, M., Zhou, W., Wacholder, S., Wang, Z., Rodriguez-Santiago, B., Hutchinson, A., Deng, X., Liu, C., Horner, M.-J., et al. (2012) · Nature Genetics · doi:10.1038/ng.2270 · Cited by 589 · see citing works
Mosaic Copy Number Variation in Human Neurons
McConnell, M. J., Lindberg, M. R., Brennand, K. J., Piper, J. C., Voet, T., Cowing-Zitron, C., Shumilina, S., Lasken, R. S., Vermeesch, J. R., Hall, I. M., et al. (2013) · Science · doi:10.1126/science.1243472 · Cited by 551 · see citing works
Forsberg, L. A., Rasi, C., Malmqvist, N., Davies, H., Pasupulati, S., Pakalapati, G., Sandgren, J., de Ståhl, T. D., Zaghlool, A., Giedraitis, V., et al. (2014) · Nature Genetics · doi:10.1038/ng.2966 · Cited by 460 · see citing works
Self-citationImmune surveillance in the central nervous system
Ousman, S. S., & Kubes, P. (2012) · Nature Neuroscience · doi:10.1038/nn.3161 · Cited by 433 · see citing works
Lind, L., Fors, N., Hall, J., Marttala, K., & Stenborg, A. (2005) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/01.atv.0000184769.22061.da · Cited by 364 · see citing works
Self-citationContribution of Alzheimer disease to mortality in the United States
James, B. D., Leurgans, S. E., Hebert, L. E., Scherr, P. A., Yaffe, K. S., & Bennett, D. A. (2014) · Neurology · doi:10.1212/wnl.0000000000000240 · Cited by 364 · see citing works
Cataldo, J. K., Prochaska, J. J., & Glantz, S. A. (2010) · Journal of Alzheimer s Disease · doi:10.3233/jad-2010-1240 · Cited by 328 · see citing works
Genetic insights in Alzheimer's disease
Bettens, K., Sleegers, K., & Broeckhoven, C. V. (2012) · The Lancet Neurology · doi:10.1016/s1474-4422(12)70259-4 · Cited by 326 · see citing works
Change of Human Chromosome Count Distributions with Age: Evidence for a Sex Difference
Jacobs, P. A., BRUNTON, M., Brown, W. M. C., Doll, R., & Goldstein, H. (1963) · Nature · doi:10.1038/1971080a0 · Cited by 294 · see citing works
Ahmad, A. S., Ormiston‐Smith, N., & Sasieni, P. D. (2015) · British Journal of Cancer · doi:10.1038/bjc.2014.606 · Cited by 275 · see citing works
Age-associated aneuploidy: Loss of Y chromosome from human bone marrow cells with aging
Pierre, R. V., & Hoagland, H. C. (1972) · Cancer · doi:10.1002/1097-0142(197210)30:4 · Cited by 265 · see citing works
Smoking is associated with mosaic loss of chromosome Y
Dumanski, J. P., Rasi, C., Lönn, M., Davies, H., Ingelsson, M., Giedraitis, V., Lannfelt, L., Magnusson, P. K. E., Lindgren, C. M., Morris, A. P., et al. (2014) · Science · doi:10.1126/science.1262092 · Cited by 244 · see citing works
Self-citationConvergent genetic and expression data implicate immunity in Alzheimer's disease
International Genomics of Alzheimer's Disease Consortium (IGAP), Jones, L., Lambert, J., Wang, L., Choi, S., Harold, D., Vedernikov, A., Escott‐Price, V., Stone, T., Richards, A., et al. (2015) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2014.05.1757 · Cited by 199 · see citing works
Self-citationAge-Related Somatic Structural Changes in the Nuclear Genome of Human Blood Cells
Forsberg, L. A., Rasi, C., Razzaghian, H. R., Pakalapati, G., Waite, L. L., Thibeault, K. S., Ronowicz, A., Wineinger, N. E., Tiwari, H. K., Boomsma, D. I., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.12.009 · Cited by 192 · see citing works
Self-citationBacterial Infection and Alzheimer's Disease: A Meta-Analysis
Maheshwari, P., & Eslick, G. D. (2014) · Journal of Alzheimer's Disease · doi:10.3233/jad-140621 · Cited by 183 · see citing works
Cancer cells preferentially lose small chromosomes
Duijf, P. H. G., Schultz, N. D., & Benezra, R. (2012) · International Journal of Cancer · doi:10.1002/ijc.27924 · Cited by 170 · see citing works
Loss of the Y chromosome from normal and neoplastic bone marrows
(1992) · Genes Chromosomes and Cancer · doi:10.1002/gcc.2870050112 · Cited by 167 · see citing works
A study of middle-aged men with particular reference to risk factors for cardiovascular disease.
Hedstrand, H. (1975) · PubMed · Cited by 149 · see citing works
Case, L. K., Wall, E. H., Dragon, J. A., Saligrama, N., Krementsov, D. N., Moussawi, M., Zachary, J. F., Huber, S. A., Blankenhorn, E. P., & Teuscher, C. (2013) · Genome Research · doi:10.1101/gr.156703.113 · Cited by 146 · see citing works
Bonnefond, A., Skrobek, B., Lobbens, S., Eury, E., Thuillier, D., Cauchi, S., Lantieri, O., Balkau, B., Riboli, E., Marre, M., et al. (2013) · Nature Genetics · doi:10.1038/ng.2700 · Cited by 139 · see citing works
Herpes simplex infection and the risk of Alzheimer’s disease: A nested case-control study
Lövheim, H., Gilthorpe, J., Johansson, A., Eriksson, S., Hallmans, G., & Elgh, F. (2015) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2014.07.157 · Cited by 136 · see citing works
Cell Cycle Activation and Aneuploid Neurons in Alzheimer's Disease
Arendt, T. (2012) · Molecular Neurobiology · doi:10.1007/s12035-012-8262-0 · Cited by 133 · see citing works
Schwartz, M., & Shechter, R. (2010) · Molecular Psychiatry · doi:10.1038/mp.2010.31 · Cited by 129 · see citing works
EADI consortium, G. C., Lambert, J.-C., Grenier-Boley, B., Harold, D., Zelenika, D., Chouraki, V, Kamatani, Y., Sleegers, K., Ikram, M. A., Hiltunen, M., et al. (2013) · Molecular Psychiatry · doi:10.1038/mp.2012.14 · Cited by 129 · see citing works
Self-citationNowinski, G. P., Dyke, D. L. V., Tilley, B., Jacobsen, G. K., Babu, V. R., Worsham, M. J., Wilson, G. N., & Weiss, L. (1990) · Europe PMC (PubMed Central) · Cited by 125 · see citing works
Missense variant in TREML2 protects against Alzheimer's disease
Benítez, B. A., Jin, S. C., Guerreiro, R. J., Graham, R., Lord, J., Harold, D. H., Sims, R., Lambert, J., Gibbs, J. R., Brás, J., et al. (2013) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2013.12.010 · Cited by 122 · see citing works
Self-citationY chromosome loss in male patients with primary biliary cirrhosis
Lleò, A., Oertelt‐Prigione, S., Bianchi, I., Caliari, L., Finelli, P., Miozzo, M. R., Lazzari, R., Floreani, A., Donato, F., Colombo, M., et al. (2013) · Journal of Autoimmunity · doi:10.1016/j.jaut.2012.12.008 · Cited by 113 · see citing works
Why Men Die Younger: Causes of Mortality Differences by Sex
Kalben, B. B. (2001) · Cited by 105 · see citing works
Genomics and Genetics of Human and Primate Y Chromosomes
Hughes, J. F., & Rozen, S. (2012) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-090711-163855 · Cited by 100 · see citing works
Loss of Y Chromosome in Peripheral Blood of Colorectal and Prostate Cancer Patients
Noveski, P., Madjunkova, S., Stefanovska, E. S., Matevska-Geshkovska, N., Kuzmanovska, M., Dimovski, A. J., & Plaseska‐Karanfilska, D. (2016) · PLoS ONE · doi:10.1371/journal.pone.0146264 · Cited by 100 · see citing works
Persani, L., Bonomi, M., Lleò, A., Pasini, S. M., Civardi, F., Bianchi, I., Campi, I., Finelli, P., Miozzo, M. R., Castronovo, C., et al. (2011) · Journal of Autoimmunity · doi:10.1016/j.jaut.2011.11.011 · Cited by 92 · see citing works
Wong, A. K., Fang, B., Zhang, L., Guo, X., Lee, S. B., & Schreck, R. R. (2008) · Archives of Pathology & Laboratory Medicine · doi:10.5858/2008-132-1329-lotyca · Cited by 78 · see citing works
New data shed light on Y‐loss‐related pathogenesis in myelodysplastic syndromes
Ganster, C., Kämpfe, D., Jung, K., Braulke, F., Shirneshan, K., Machherndl‐Spandl, S., Suessner, S., Bramlage, C. P., Legler, T. J., Koziolek, M. J., et al. (2015) · Genes Chromosomes and Cancer · doi:10.1002/gcc.22282 · Cited by 56 · see citing works
Kalben, B. B. (2000) · North American Actuarial Journal · doi:10.1080/10920277.2000.10595939 · Cited by 52 · see citing works
Y chromosome structural and functional changes in human malignant diseases
Bianchi, N. O. (2009) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2009.02.001 · Cited by 50 · see citing works
Forsberg, L. A., Absher, D., & Dumanski, J. P. (2012) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2012-101322 · Cited by 44 · see citing works
Self-citationMolecular genetic evidence of Y chromosome loss in male patients with hematological disorders
ZHANG, L.-J., Shin, E. S., Zhong-xing, Y. U., & Shi-bo, L. I. (2007) · Chinese Medical Journal · doi:10.1097/00029330-200711020-00012 · Cited by 43 · see citing works
Chapman, J., Rees, E., Harold, D. H., Ivanov, D. K., Gerrish, A., Sims, R., Hollingworth, P., Stretton, A., Holmans, P., Owen, M. J., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds476 · Cited by 32 · see citing works
Wiktor, A. E., Dyke, D. L. V., Hodnefield, J. M., Eckel‐Passow, J. E., & Hanson, C. A. (2011) · Leukemia Research · doi:10.1016/j.leukres.2011.05.002 · Cited by 30 · see citing works
Human Y-chromosome variation and male dysfunction
de Carvalho, C. M. B., & dos Santos, F. R. (2005) · Journal of Molecular and Genetic Medicine · doi:10.4172/1747-0862.1000014 · Cited by 21 · see citing works
Male breast cancer, age and sex chromosome aneuploidy
Jacobs, P. A., Maloney, V. K., Cooke, R., Crolla, J. A., Ashworth, A., & Swerdlow, A. J. (2013) · British Journal of Cancer · doi:10.1038/bjc.2012.577 · Cited by 20 · see citing works
Score, J., Chase, A., Forsberg, L. A., Feng, L., Waghorn, K., Jones, A. V., Rasi, C., Linch, D. C., Dumanski, J. P., Gale, R. E., et al. (2015) · Leukemia · doi:10.1038/leu.2015.13 · Cited by 18 · see citing works
Self-citationVeiga, L. C. D. S., Bérgamo, N. A., Reis, P. P., Kowalski, L. P., & Rogatto, S. R. (2012) · Brazilian Journal of Medical and Biological Research · doi:10.1590/s0100-879x2012007500004 · Cited by 14 · see citing works
Allelic imbalance within the E-cadherin gene is an infrequent event in prostate carcinogenesis
Murant, S. J., Rolley, N., Phillips, S. M. A., Stower, M. J., & Maitland, N. J. (2000) · Genes Chromosomes and Cancer · doi:10.1002/(sici)1098-2264(200001)27:1 · Cited by 12 · see citing works
Flagged first, then by citations
1 of the 65 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Bao, H., Cao, J., Chen, M., Min, C., Chen, W., Chen, X., Chen, Y., Chen, Y., Chen, Y., Chen, Z., et al. (2023) · Science China Life Sciences · doi:10.1007/s11427-023-2305-0 · Cited by 389 · see citing works
Mechanisms of sex differences in Alzheimer’s disease
Lopez-Lee, C., Torres, E. R. S., Carling, G., & Gan, L. (2024) · Neuron · doi:10.1016/j.neuron.2024.01.024 · Cited by 376 · see citing works
Genetic predisposition to mosaic Y chromosome loss in blood
Thompson, D. J., The Kidney Cancer GWAS Meta-Analysis Project, Genovese, G., Halvardson, J., Ulirsch, J. C., Wright, D. J., Terao, C., Davidsson, O. B., Day, F. R., Sulem, P., et al. (2019) · Nature · doi:10.1038/s41586-019-1765-3 · Cited by 334 · see citing works
Self-citationHematopoietic loss of Y chromosome leads to cardiac fibrosis and heart failure mortality
Sano, S., Horitani, K., Ogawa, H., Halvardson, J., Chavkin, N. W., Wang, Y., Sano, M., Mattisson, J., Hata, A., Danielsson, M., et al. (2022) · Science · doi:10.1126/science.abn3100 · Cited by 265 · see citing works
Self-citationMosaicism in health and disease — clones picking up speed
Forsberg, L. A., Gisselsson, D., & Dumanski, J. P. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.145 · Cited by 253 · see citing works
Self-citationHuman Y-chromosome variation in the genome-sequencing era
Jobling, M. A., & Tyler‐Smith, C. (2017) · Nature Reviews Genetics · doi:10.1038/nrg.2017.36 · Cited by 242 · see citing works
Pathogenic Mechanisms of Somatic Mutation and Genome Mosaicism in Aging
Vijg, J., & Dong, X. (2020) · Cell · doi:10.1016/j.cell.2020.06.024 · Cited by 230 · see citing works
Wright, D. J., Day, F. R., Kerrison, N. D., Zink, F., Cardona, A., Sulem, P., Thompson, D. J., Sigurjónsdóttir, S., Gudbjartsson, D. F., Helgason, A., et al. (2017) · Nature Genetics · doi:10.1038/ng.3821 · Cited by 225 · see citing works
Clonal hematopoiesis and non-hematologic disorders
Jaiswal, S. (2020) · Blood · doi:10.1182/blood.2019000989 · Cited by 182 · see citing works
Predictors of mosaic chromosome Y loss and associations with mortality in the UK Biobank
Loftfield, E., Zhou, W., Graubard, B. I., Yeager, M., Chanock, S. J., Freedman, N. D., & Machiela, M. J. (2018) · Scientific Reports · doi:10.1038/s41598-018-30759-1 · Cited by 178 · see citing works
Sex Differences in Alzheimer’s Disease: Insights From the Multiomics Landscape
Guo, L., Zhong, M. B., Zhang, L., Zhang, B., & Cai, D. (2022) · Biological Psychiatry · doi:10.1016/j.biopsych.2021.02.968 · Cited by 164 · see citing works
Exploring Sex-Related Differences in Microglia May Be a Game-Changer in Precision Medicine
Lynch, M. A. (2022) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2022.868448 · Cited by 146 · see citing works
Forsberg, L. A. (2017) · Human Genetics · doi:10.1007/s00439-017-1799-2 · Cited by 134 · see citing works
Self-citationHaitjema, S., Kofink, D., van Setten, J., van der Laan, S. W., Schoneveld, A. H., Eales, J., Tomaszewski, M., de Jager, S. C. A., Pasterkamp, G., Asselbergs, F. W., et al. (2017) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.116.001544 · Cited by 123 · see citing works
Mosaic loss of human Y chromosome: what, how and why
Guo, X., Dai, X., Zhou, T., Wang, H., Ni, J., Xue, J., & Wang, X. (2020) · Human Genetics · doi:10.1007/s00439-020-02114-w · Cited by 119 · see citing works
Immune cells lacking Y chromosome show dysregulation of autosomal gene expression
Dumanski, J. P., Halvardson, J., Davies, H., Rychlicka-Buniowska, E., Mattisson, J., Moghadam, B. T., Nagy, N., Węglarczyk, K., Bukowska-Straková, K., Danielsson, M., et al. (2021) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-021-03822-w · Cited by 117 · see citing works
Self-citationQuantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
Oetjens, M. T., Kelly, M., Sturm, A. C., Martin, C. L., & Ledbetter, D. H. (2019) · Nature Communications · doi:10.1038/s41467-019-12869-0 · Cited by 114 · see citing works
Jan, M., Ebert, B. L., & Jaiswal, S. (2016) · Seminars in hematology (Print) · doi:10.1053/j.seminhematol.2016.10.002 · Cited by 130 · see citing works
Sex Chromosome Effects on Male–Female Differences in Mammals
Snell, D. M., & Turner, J. (2018) · Current Biology · doi:10.1016/j.cub.2018.09.018 · Cited by 106 · see citing works
Clonal hematopoiesis, somatic mosaicism, and age-associated disease
Evans, M. A., & Walsh, K. (2022) · Physiological Reviews · doi:10.1152/physrev.00004.2022 · Cited by 105 · see citing works
Sex Differences in Aging: Genomic Instability
Fischer, K. E., & Riddle, N. C. (2017) · The Journals of Gerontology Series A · doi:10.1093/gerona/glx105 · Cited by 97 · see citing works
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) · European Journal of Human Genetics · doi:10.1038/s41431-019-0533-z · Cited by 95 · see citing works
Self-citationMosaic Y Loss Is Moderately Associated with Solid Tumor Risk
Loftfield, E., Zhou, W., Yeager, M., Chanock, S. J., Freedman, N. D., & Machiela, M. J. (2018) · Cancer Research · doi:10.1158/0008-5472.can-18-2566 · Cited by 95 · see citing works
Loss of chromosome Y in primary tumors
Qi, M., Pang, J., Mitsiades, I. R., Lane, A. A., & Rheinbay, E. (2023) · Cell · doi:10.1016/j.cell.2023.06.006 · Cited by 93 · see citing works
Sex and Gender Differences in Neurodegenerative Diseases: Challenges for Therapeutic Opportunities
Bianco, A., Antonacci, Y., & Liguori, M. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24076354 · Cited by 88 · see citing works
Deciphering the genetic and epidemiological landscape of mitochondrial DNA abundance
Hägg, S., Jylhävä, J., Wang, Y., Czene, K., & Graßmann, F. (2020) · Human Genetics · doi:10.1007/s00439-020-02249-w · Cited by 85 · see citing works
Hallmarks of sex bias in immuno-oncology: mechanisms and therapeutic implications
Xiao, T., Lee, J., Gauntner, T. D., Velegraki, M., Lathia, J. D., & Li, Z. (2024) · Nature reviews. Cancer · doi:10.1038/s41568-024-00680-z · Cited by 85 · see citing works
Age and sex in drug development and testing for adults
Tannenbaum, C., & Day, D. (2017) · Pharmacological Research · doi:10.1016/j.phrs.2017.04.027 · Cited by 85 · see citing works
Review: Somatic mutations in neurodegeneration
Leija‐Salazar, M., Piette, C. E., & Proukakis, C. (2018) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12465 · Cited by 84 · see citing works
Germline risk of clonal haematopoiesis
Silver, A. J., Bick, A. G., & Savona, M. R. (2021) · Nature Reviews Genetics · doi:10.1038/s41576-021-00356-6 · Cited by 80 · see citing works
Sex differences in the genetic and molecular mechanisms of coronary artery disease
Sakkers, T. R., Mokrý, M., Civelek, M., Erdmann, J., Pasterkamp, G., Benavente, E. D., & den Ruijter, H. M. (2023) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2023.117279 · Cited by 79 · see citing works
Mosaic loss of chromosome Y in leukocytes matters
Forsberg, L. A., Halvardson, J., Rychlicka-Buniowska, E., Danielsson, M., Moghadam, B. T., Mattisson, J., Rasi, C., Davies, H., Lind, L., Giedraitis, V., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0267-9 · Cited by 74 · see citing works
Self-citationBiological Hallmarks of Cancer in Alzheimer’s Disease
Nudelman, K. N. H., McDonald, B. C., Lahiri, D. K., & Saykin, A. J. (2019) · Molecular Neurobiology · doi:10.1007/s12035-019-1591-5 · Cited by 72 · see citing works
Y chromosome mosaicism is associated with age-related macular degeneration
Graßmann, F., Kiel, C., den Hollander, A. I., Weeks, D. E., Lotery, A. J., Cipriani, V., & Weber, B. H. F. (2018) · European Journal of Human Genetics · doi:10.1038/s41431-018-0238-8 · Cited by 68 · see citing works
Somatic mutations provide important and unique insights into the biology of complex diseases
Ólafsson, S., & Anderson, C. A. (2021) · Trends in Genetics · doi:10.1016/j.tig.2021.06.012 · Cited by 69 · see citing works
Mas‐Peiró, S., Abplanalp, W. T., Rasper, T., Berkowitsch, A., Leistner, D. M., Dimmeler, S., & Zeiher, A. M. (2023) · European Heart Journal · doi:10.1093/eurheartj/ehad093 · Cited by 69 · see citing works
Ouseph, M. M., Hasserjian, R. P., Cin, P. D., Lovitch, S. B., Steensma, D. P., Nardi, V., & Weinberg, O. K. (2020) · Haematologica · doi:10.3324/haematol.2019.240689 · Cited by 61 · see citing works
Mosaic loss of chromosome Y promotes leukemogenesis and clonal hematopoiesis
Zhang, Q., Zhao, L., Yang, Y., Li, S., Liu, Y., & Chen, C. (2022) · JCI Insight · doi:10.1172/jci.insight.153768 · Cited by 60 · see citing works
Brain Somatic Mutation in Aging and Alzheimer's Disease
Miller, M. B., Reed, H., & Walsh, C. A. (2021) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-121520-081242 · Cited by 56 · see citing works
Large mosaic copy number variations confer autism risk
Sherman, M. A., Rodin, R. E., Genovese, G., Dias, C., Barton, A. R., Mukamel, R. E., Berger, B., Park, P. J., Walsh, C. A., & Loh, P. (2021) · Nature Neuroscience · doi:10.1038/s41593-020-00766-5 · Cited by 56 · see citing works
Mosaic chromosome Y loss is associated with alterations in blood cell counts in UK Biobank men
Lin, S., Loftfield, E., Sampson, J. N., Zhou, W., Yeager, M., Freedman, N. D., Chanock, S. J., & Machiela, M. J. (2020) · Scientific Reports · doi:10.1038/s41598-020-59963-8 · Cited by 52 · see citing works
Balagué-Dobón, L., Cáceres, A., & González, J. R. (2022) · Briefings in Bioinformatics · doi:10.1093/bib/bbac043 · Cited by 50 · see citing works
Olney, K. C., Brotman, S. M., Andrews, J. P., Valverde-Vesling, V. A., & Wilson, M. (2020) · Biology of Sex Differences · doi:10.1186/s13293-020-00312-9 · Cited by 40 · see citing works
Loss of Y and clonal hematopoiesis in blood—two sides of the same coin?
Ljungström, V., Mattisson, J., Halvardson, J., Pandzic, T., Davies, H., Rychlicka-Buniowska, E., Danielsson, M., Lacaze, P. A., Cavelier, L. B., Dumanski, J. P., et al. (2021) · Leukemia · doi:10.1038/s41375-021-01456-2 · Cited by 49 · see citing works
Self-citationGIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health
Zhao, Y., Stankovic, S., Koprulu, M., Wheeler, E., Day, F. R., Allen, H. L., Kerrison, N. D., Pietzner, M., Loh, P., Wareham, N. J., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-24504-y · Cited by 48 · see citing works
Leukocytes with chromosome Y loss have reduced abundance of the cell surface immunoprotein CD99
Mattisson, J., Danielsson, M., Hammond, M., Davies, H., Gallant, C. J., Nordlund, J., Raine, A., Edén, M., Kilander, L., Ingelsson, M., et al. (2021) · Scientific Reports · doi:10.1038/s41598-021-94588-5 · Cited by 48 · see citing works
Self-citationMicronuclei and disease – Report of HUMN project workshop at Rennes 2019 EEMGS conference
Fenech, M. F., Holland, N., Kirsch‐Volders, M., Knudsen, L. E., Wagner, K., Stopper, H., Knasmüller, S., Bolognesi, C., El‐Zein, R. A., & Bonassi, S. (2020) · Mutation Research/Genetic Toxicology and Environmental Mutagenesis · doi:10.1016/j.mrgentox.2020.503133 · Cited by 45 · see citing works
Relationship Between Loss of Y Chromosome and Urologic Cancers: New Future Perspectives
Russo, P., Bizzarri, F. P., Filomena, G. B., Marino, F., Iacovelli, R., Ciccarese, C., Boccuto, L., Ragonese, M., Gavi, F., Rossi, F., et al. (2024) · Cancers · doi:10.3390/cancers16223766 · Cited by 44 · see citing works
Extreme downregulation of chromosome Y and Alzheimer's disease in men
Cáceres, A., Jené, A., Esko, T., Jurado, L. A. P., & González, J. R. (2020) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2020.02.003 · Cited by 44 · see citing works
Lin, S., Brown, D. W., Rose, B., Day, F. R., Lee, O. W., Khan, S. M., Hislop, J., Chanock, S. J., Perry, J. R. B., & Machiela, M. J. (2021) · Cell & Bioscience · doi:10.1186/s13578-021-00651-z · Cited by 42 · see citing works
Loss of Y Chromosome and Cardiovascular Events in Chronic Kidney Disease
Weyrich, M., Cremer, S., Gerster, M., Sarakpi, T., Rasper, T., Zewinger, S., Patyna, S., Leistner, D. M., Heine, G. H., Wanner, C., et al. (2024) · Circulation · doi:10.1161/circulationaha.124.069139 · Cited by 41 · see citing works
Epigenetic mechanisms regulate sex-specific bias in disease manifestations
Chlamydas, S., Markouli, M., Strepkos, D., & Piperi, C. (2022) · Journal of Molecular Medicine · doi:10.1007/s00109-022-02227-x · Cited by 41 · see citing works
Somatic mosaicism of sex chromosomes in the blood and brain
Graham, E., Vermeulen, M., Vardarajan, B. N., Bennett, D. A., Jager, P. L. D., Pearse, R. V., Young‐Pearse, T. L., & Mostafavi, S. (2019) · Brain Research · doi:10.1016/j.brainres.2019.146345 · Cited by 39 · see citing works
The effects of loss of Y chromosome on male health
Bruhn‐Olszewska, B., Markljung, E., Rychlicka-Buniowska, E., Sarkisyan, D., Filipowicz, N. H., & Dumanski, J. P. (2025) · Nature Reviews Genetics · doi:10.1038/s41576-024-00805-y · Cited by 37 · see citing works
Self-citationThe ageing genome, clonal mosaicism and chronic disease
Machiela, M. J., & Chanock, S. J. (2017) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2016.12.002 · Cited by 36 · see citing works
Loss of chromosome Y in blood, but not in brain, of suicide completers
Kimura, A., Hishimoto, A., Otsuka, I., Okazaki, S., Boku, S., Horai, T., Izumi, T., Takahashi, M., Ueno, Y., Shirakawa, O., et al. (2018) · PLoS ONE · doi:10.1371/journal.pone.0190667 · Cited by 37 · see citing works
Decoding and rejuvenating human ageing genomes: Lessons from mosaic chromosomal alterations
Dai, X., & Guo, X. (2021) · Ageing Research Reviews · doi:10.1016/j.arr.2021.101342 · Cited by 37 · see citing works
Y-chromosome loss is frequent in male renal tumors
Büscheck, F., Fraune, C., Garmestani, S., Simon, R., Kluth, M., Hube‐Magg, C., Ketterer, K., Eichelberg, C., Höflmayer, D., Jacobsen, F., et al. (2021) · Annals of Translational Medicine · doi:10.21037/atm-20-3061 · Cited by 36 · see citing works
Mosaic loss of Chromosome Y in aged human microgliaPreprint
Vermeulen, M., Pearse, R. V., Young‐Pearse, T. L., & Mostafavi, S. (2022) · Genome Research · doi:10.1101/gr.276409.121 · Cited by 33 · see citing works
Loss of chromosome Y in regulatory T cells
Mattisson, J., Halvardson, J., Davies, H., Bruhn‐Olszewska, B., Olszewski, P., Danielsson, M., Bjurling, J., Lindberg, A., Zaghlool, A., Rychlicka-Buniowska, E., et al. (2024) · BMC Genomics · doi:10.1186/s12864-024-10168-7 · Cited by 33 · see citing works
Self-citationMale-specific epistasis between WWC1 and TLN2 genes is associated with Alzheimer's disease
Gusareva, E. S., Twizere, J.-C., Sleegers, K., Dourlen, P., Abisambra, J. F., Meier, S., Cloyd, R., Weiss, B., Dermaut, B., Bessonov, K., et al. (2018) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2018.08.001 · Cited by 32 · see citing works
Self-citationGarcía‐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. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24020898 · Cited by 31 · see citing works
Rose, S. E., Frankowski, H., Knupp, A., Berry, B. J., Martinez, R. A., Dinh, S. Q., Bruner, L. T., Willis, S. L., Crane, P. K., Larson, E. B., et al. (2018) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/nly013 · Cited by 29 · see citing works
Liu, Y., Bai, Y., Wu, X., Li, G., Wei, W., Fu, W., Wang, G., Feng, Y., Meng, H., Li, H., et al. (2019) · Environmental Pollution · doi:10.1016/j.envpol.2019.113655 · Cited by 30 · see citing works
Loss of Y in leukocytes as a risk factor for critical COVID-19 in men
Bruhn‐Olszewska, B., Davies, H., Sarkisyan, D., Juhas, U., Rychlicka-Buniowska, E., Wójcik, M., Horbacz, M., Jąkalski, M., Olszewski, P., Westholm, J. O., et al. (2022) · Genome Medicine · doi:10.1186/s13073-022-01144-5 · Cited by 27 · see citing works
Self-citationGenetic and epigenetic changes in clonal descendants of irradiated human fibroblasts
Flunkert, J., Maierhofer, A., Dittrich, M. T., Müller, T., Horvath, S., Nanda, I., & Haaf, T. (2018) · Experimental Cell Research · doi:10.1016/j.yexcr.2018.06.034 · Cited by 29 · see citing works
Mosaic loss of Y chromosome and mortality after coronary angiography
Weyrich, M., Zewinger, S., Sarakpi, T., Rasper, T., Kleber, M. E., Cremer, S., Zanders, L., Fleck, F., Siegbahn, A. G., Wallentin, L. C., et al. (2025) · European Heart Journal · doi:10.1093/eurheartj/ehaf035 · Cited by 29 · see citing works
Cornejo‐Páramo, P., Lira‐Noriega, A., Ramírez-Suástegui, C., la Cruz, F. R. M., Székely, T., Urrutia, A. O., & Cortez, D. (2020) · BMC Evolutionary Biology · doi:10.1186/s12862-020-01671-y · Cited by 28 · see citing works
Helgadóttir, H., Lundin, P., Arzt, E. W., Lindström, A.-K., Graff, C., & Eriksson, M. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz085 · Cited by 23 · see citing works
Y chromosome in health and diseases
Lau, Y. C. (2020) · Cell & Bioscience · doi:10.1186/s13578-020-00452-w · Cited by 27 · see citing works
Gutiérrez-Hurtado, I., Sánchez-Méndez, A. D., Becerra-Loaiza, D. S., Rangel-Villalobos, H., Torres-Carrillo, N., Gallegos-Arreola, M., & Aguilar-Velázquez, J. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25084230 · Cited by 22 · see citing works
Lim, J., Hubbard, A. K., Blechter, B., Shi, J., Zhou, W., Loftfield, E., Machiela, M. J., & Wong, J. Y. Y. (2024) · Journal of the American Heart Association · doi:10.1161/jaha.124.036984 · Cited by 26 · see citing works
Bai, Y., Guan, X., Wei, W., Feng, Y., Meng, H., Li, G., Li, H., Li, M., Wang, C., Fu, M., et al. (2021) · Journal of Hazardous Materials · doi:10.1016/j.jhazmat.2021.125519 · Cited by 26 · see citing works
Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood
Jakubek, Y. A., Ma, X., Stilp, A. M., Yu, F., Bacon, J., Wong, J., Aguet, F., Ardlie, K., Arnett, D. K., Barnes, K., et al. (2025) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2024.12.014 · Cited by 24 · see citing works
Ocañas, S. R., Ansere, V. A., Tooley, K. B., Hadad, N., Chucair‐Elliott, A. J., Stanford, D. R., Rice, S., Wronowski, B., Pham, K. D., Hoffman, J. M., et al. (2022) · Molecular Neurobiology · doi:10.1007/s12035-022-02860-0 · Cited by 25 · see citing works
Chromosomal instability and pro-inflammatory response in aging
Barroso‐Vilares, M., & Logarinho, E. (2019) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2019.111118 · Cited by 25 · see citing works
Graßmann, F., Weber, B. H. F., & Veitia, R. A. (2019) · Human Genetics · doi:10.1007/s00439-019-02029-1 · Cited by 25 · see citing works
Dawoud, A. A. Z., Tapper, W., & Cross, N. C. P. (2023) · Science Advances · doi:10.1126/sciadv.ade9746 · Cited by 25 · see citing works
Chromosomal and gonadal factors regulate microglial sex effects in the aging brain
Ocañas, S. R., Ansere, V. A., Kellogg, C. M., Isola, J. V. V., Chucair‐Elliott, A. J., & Freeman, W. M. (2023) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2023.02.008 · Cited by 24 · see citing works
Investigation of chromosome Y loss in men with schizophrenia
Hirata, T., Hishimoto, A., Otsuka, I., Okazaki, S., Boku, S., Kimura, A., Horai, T., & Sora, I. (2018) · Neuropsychiatric Disease and Treatment · doi:10.2147/ndt.s172886 · Cited by 24 · see citing works
Matatall, K. A., Wathan, T. K., Nguyen, M., Chen, H., McDonald, A., Qi, G., Belk, J. A., Florez, M. A., Le, D. T., Olarinde, T., et al. (2025) · Cell Stem Cell · doi:10.1016/j.stem.2025.06.006 · Cited by 23 · see citing works
Wójcik, M., Juhas, U., Mohammadi, E., Mattisson, J., Drężek-Chyła, K., Rychlicka-Buniowska, E., Bruhn‐Olszewska, B., Davies, H., Chojnowska, K., Olszewski, P., et al. (2024) · Scientific Reports · doi:10.1038/s41598-024-60049-y · Cited by 23 · see citing works
Self-citationRaghuram, G. V., Chaudhary, S., Johari, S. D., & Mittra, I. (2019) · Genes · doi:10.3390/genes10060407 · Cited by 22 · see citing works
Kobayashi, T., Hachiya, T., Ikehata, Y., & Horie, S. (2023) · Frontiers in Aging · doi:10.3389/fragi.2023.1176451 · Cited by 22 · see citing works
Somatic Mosaicism in Biology and Disease
Ogawa, H., Horitani, K., Izumiya, Y., & Sano, S. (2021) · Annual Review of Physiology · doi:10.1146/annurev-physiol-061121-040048 · Cited by 20 · see citing works
The role of genetics and epigenetics in sex differences in human survival
Iannuzzi, V., Bacalini, M. G., Franceschi, C., & Giuliani, C. (2023) · Genus · doi:10.1186/s41118-023-00181-1 · Cited by 20 · see citing works
Why Y matters? The implication of loss of Y chromosome in blood and cancer
Wang, Y., & Sano, S. (2024) · Cancer Science · doi:10.1111/cas.16072 · Cited by 21 · see citing works
Y Chromosome Loss and Implications for Oncology
Dirican, C. D., & Nelson, P. S. (2024) · Molecular Cancer Research · doi:10.1158/1541-7786.mcr-24-0105 · Cited by 22 · see citing works
Exploring the role of sex differences in Alzheimer's disease pathogenesis in Down syndrome
Andrews, E. J., Martini, A. C., & Head, E. (2022) · Frontiers in Neuroscience · doi:10.3389/fnins.2022.954999 · Cited by 20 · see citing works
The Y chromosome: male reproduction and beyond
Krausz, C. G., & Abrardo, C. (2025) · Fertility and Sterility · doi:10.1016/j.fertnstert.2025.03.006 · Cited by 21 · see citing works
Y Chromosome Loss Is a Frequent Event in Barrett’s Adenocarcinoma and Associated with Poor Outcome
Loeser, H., Wölwer, C. B., Alakus, H., Chon, S., Zander, T., Buettner, R., Hillmer, A. M., Bruns, C. J., Schroeder, W., Gebauer, F., et al. (2020) · Cancers · doi:10.3390/cancers12071743 · Cited by 19 · see citing works
Mosaic Loss of Chromosome Y Is Associated With Functional Outcome After Ischemic Stroke
Dorvall, M., Pedersén, A., Dumanski, J. P., Söderholm, M., Lindgren, A. G., Stanne, T. M., & Jern, C. (2023) · Stroke · doi:10.1161/strokeaha.123.043551 · Cited by 19 · see citing works
Self-citationLoss of Chromosome Y and Its Potential Applications as Biomarker in Health and Forensic Sciences
Barros, B., Morais, M., Teixeira, A. L., & Medeiros, R. (2020) · Cytogenetic and Genome Research · doi:10.1159/000508564 · Cited by 19 · see citing works
MADloy: robust detection of mosaic loss of chromosome Y from genotype-array-intensity data
González, J. R., López‐Sánchez, M., Cáceres, A., Puig, P., Esko, T., & Jurado, L. A. P. (2020) · BMC Bioinformatics · doi:10.1186/s12859-020-03768-z · Cited by 18 · see citing works
Lutshumba, J., Wilcock, D. M., Monson, N. L., & Stowe, A. M. (2023) · Neurobiology of Disease · doi:10.1016/j.nbd.2023.106202 · Cited by 19 · see citing works
Glyphosate Use and Mosaic Loss of Chromosome Y among Male Farmers in the Agricultural Health Study
Chang, V. C., Zhou, W., Berndt, S. I., Andreotti, G., Yeager, M., Parks, C. G., Sandler, D. P., Rothman, N., Freeman, L. E. B., Machiela, M. J., et al. (2023) · Environmental Health Perspectives · doi:10.1289/ehp12834 · Cited by 18 · see citing works
Minding the Gap: Exploring Neuroinflammatory and Microglial Sex Differences in Alzheimer’s Disease
Reed-Geaghan, E. G., & Keller-Norrell, P. R. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms242417377 · Cited by 19 · see citing works
Tissue mosaicism following stem cell aging: blood as an exemplar
Kapadia, C. D., & Goodell, M. A. (2024) · Nature Aging · doi:10.1038/s43587-024-00589-0 · Cited by 18 · see citing works
Kirsch‐Volders, M., & Fenech, M. F. (2021) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2021.108395 · Cited by 19 · see citing works
Why Y? Downregulation of Chromosome Y Genes Potentially Contributes to Elevated Cancer Risk
Brown, D. W., & Machiela, M. J. (2019) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djz236 · Cited by 18 · see citing works
- 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
- Health Sciences › Medicine › Physiology › 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
