Evidence map›Paper›PMID 27231129›Full record

Trial reportAmerican journal of human genetics2016

Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease.

Jan P Dumanski, Jean-Charles Lambert, Chiara Rasi, Vilmantas Giedraitis, Hanna Davies, Benjamin Grenier-Boley, Cecilia M Lindgren, Dominique Campion, Carole Dufouil, European Alzheimer’s Disease Initiative Investigators and 7 more

Open access · hybridAbstract readComparative StudyRandomized Controlled Trial
In one paragraph

Trial report in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 167 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
167citing papers in PubMed, 1 pooled it
15.3field-weighted citation impact, top 1% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

167 citing papers in PubMed, 1 synthesis or guideline pooled it, 255 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Genetic mechanisms of mitotic error in 840,853 blood genomes.medRxiv : the preprint server for health sciences · 2026
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  4. Article
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  10. Mosaic loss of Y chromosome associates with lung function, emphysema, and epigenetic aging.American journal of respiratory and critical care medicine · 2026
    Article
  11. Article
  12. Review
  13. Article
  14. Article
  15. Article
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107 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors at 7 institutions in 4 countries.

Jan P DumanskiDepartment of Immunology, Genetics, and Pathology, Uppsala University, 75108 Uppsala, Sweden; Science for Life Laboratory, Uppsala University, 75123 Uppsala, Sweden. Electronic address: jan.dumanski@igp.uu.se.
Jean-Charles LambertUniversity Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167 - RID-AGE - Risk Factors and Molecular Determinants of Aging-Related Diseases, 59000 Lille, France.
Chiara RasiDepartment of Immunology, Genetics, and Pathology, Uppsala University, 75108 Uppsala, Sweden; Science for Life Laboratory, Uppsala University, 75123 Uppsala, Sweden.
Vilmantas GiedraitisDepartment of Public Health and Caring Sciences, Uppsala University, 75185 Uppsala, Sweden.
Hanna DaviesDepartment of Immunology, Genetics, and Pathology, Uppsala University, 75108 Uppsala, Sweden; Science for Life Laboratory, Uppsala University, 75123 Uppsala, Sweden.
Benjamin Grenier-BoleyUniversity Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167 - RID-AGE - Risk Factors and Molecular Determinants of Aging-Related Diseases, 59000 Lille, France.
Cecilia M LindgrenWellcome Trust Centre for Human Genetics, University of Oxford, OX3 7BN Oxford, UK; Broad Institute of MIT and Harvard University, Cambridge, MA 02142, USA.
Dominique CampionCNR-MAJ, Inserm, U1079, Rouen University Hospital, Rouen 76031 France.
Carole DufouilInserm, U708, Victor Segalen University, Bordeaux 33076, France.
European Alzheimer’s Disease Initiative Investigators
Florence PasquierUniversité de Lille, CNR-MAJ, Inserm 1171, Distalz, Lille 59000, France; CHU, Lille 59000, France.
Philippe AmouyelUniversity Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167 - RID-AGE - Risk Factors and Molecular Determinants of Aging-Related Diseases, 59000 Lille, France.
Lars LannfeltDepartment of Public Health and Caring Sciences, Uppsala University, 75185 Uppsala, Sweden.
Martin IngelssonDepartment of Public Health and Caring Sciences, Uppsala University, 75185 Uppsala, Sweden.
Lena KilanderDepartment of Public Health and Caring Sciences, Uppsala University, 75185 Uppsala, Sweden.
Lars LindDepartment of Medical Sciences, Uppsala University, 75185 Uppsala, Sweden.
Lars A ForsbergDepartment of Immunology, Genetics, and Pathology, Uppsala University, 75108 Uppsala, Sweden; Science for Life Laboratory, Uppsala University, 75123 Uppsala, Sweden. Electronic address: lars.forsberg@igp.uu.se.
Uppsala University · SECentre Hospitalier Universitaire de Lille · FRInserm · FRScience for Life Laboratory · SECentre for Human Genetics · GBInstitut Pasteur de Lille · FRUniversité de Rouen Normandie · FR

Funding

European Research Council 679744Wellcome Trust
6 · The paper itself

Abstract

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.

Indexed as

MosaicismAgedAged, 80 and overAlzheimer DiseaseCase-Control StudiesChromosomes, Human, YFemaleHumansLongitudinal StudiesMaleMiddle AgedPolymorphism, Single NucleotidePrognosisProspective StudiesRisk Factors

Identifiers

PMID27231129
PMCPMC4908225
OpenAlexW2403642712

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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.