Mendelian Randomisation Confirms the Role of Y-Chromosome Loss in Alzheimer's Disease Aetiopathogenesis in Men.

Alzheimer’s disease CSF biomarkers EADB GR@ACE/DEGESCO GWAS Mendelian randomization disease progression mild cognitive impairment mosaic loss of chromosome Y polygenic risk score

Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
04 Jan 2023
Historique:
received: 04 11 2022
revised: 21 12 2022
accepted: 31 12 2022
entrez: 21 1 2023
pubmed: 22 1 2023
medline: 25 1 2023
Statut: epublish

Résumé

Mosaic loss of chromosome Y (mLOY) is a common ageing-related somatic event and has been previously associated with Alzheimer's disease (AD). However, mLOY estimation from genotype microarray data only reflects the mLOY degree of subjects at the moment of DNA sampling. Therefore, mLOY phenotype associations with AD can be severely age-confounded in the context of genome-wide association studies. Here, we applied Mendelian randomisation to construct an age-independent mLOY polygenic risk score (mloy-PRS) using 114 autosomal variants. The mloy-PRS instrument was associated with an 80% increase in mLOY risk per standard deviation unit (

Identifiants

pubmed: 36674414
pii: ijms24020898
doi: 10.3390/ijms24020898
pmc: PMC9863537
pii:
doi:

Substances chimiques

tau Proteins 0
Biomarkers 0
Amyloid beta-Peptides 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : Centro de Investigación Biomédica en Red
ID : CNV-304-PRF-866
Organisme : Instituto de Salud Carlos III
ID : FI20/00215
Organisme : Ministerio Español de Ciencia, Innovación y Universidades
ID : FJC2018-036012-I
Organisme : Instituto de Salud Carlos III
ID : PI13/02434
Organisme : Instituto de Salud Carlos III
ID : PI16/01861
Organisme : Instituto de Salud Carlos III
ID : PI17/01474
Organisme : Instituto de Salud Carlos III
ID : PI19/01240
Organisme : Instituto de Salud Carlos III
ID : PI19/01301
Organisme : JPco-fuND
ID : FP-829-029

Références

Brain. 2011 Sep;134(Pt 9):2456-77
pubmed: 21810890
J Intern Med. 2004 Sep;256(3):183-94
pubmed: 15324362
Nat Rev Immunol. 2015 Nov;15(11):692-704
pubmed: 26471775
J Neurosci. 2010 Dec 15;30(50):16755-62
pubmed: 21159946
Neurobiol Aging. 2020 Jun;90:150.e1-150.e4
pubmed: 32147245
Nature. 2019 Nov;575(7784):652-657
pubmed: 31748747
Int J Geriatr Psychiatry. 2010 Apr;25(4):403-10
pubmed: 19650161
Bioinformatics. 2019 Dec 15;35(24):5346-5348
pubmed: 31329242
Arch Neurol. 2012 Jan;69(1):59-64
pubmed: 21911656
Alzheimers Dement. 2011 May;7(3):263-9
pubmed: 21514250
Hum Genet. 2020 Apr;139(4):421-446
pubmed: 32020362
Nat Genet. 2022 Apr;54(4):412-436
pubmed: 35379992
Mutat Res. 1995 Oct;338(1-6):107-13
pubmed: 7565866
AJNR Am J Neuroradiol. 2013 Dec;34(12):2287-93
pubmed: 23828104
Nat Rev Neurol. 2018 Aug;14(8):457-469
pubmed: 29985474
Nat Commun. 2021 Jun 7;12(1):3417
pubmed: 34099642
J Prev Alzheimers Dis. 2017;4(2):100-108
pubmed: 29186280
Cell Mol Life Sci. 2021 Apr;78(8):4019-4033
pubmed: 33837451
Int J Alzheimers Dis. 2012;2012:604141
pubmed: 22957297
Alzheimers Dement (N Y). 2018 Sep 06;4:575-590
pubmed: 30406177
Am J Hum Genet. 2016 Jun 2;98(6):1208-1219
pubmed: 27231129
Hum Genet. 2017 May;136(5):657-663
pubmed: 28424864
Arch Neurol. 1999 Mar;56(3):303-8
pubmed: 10190820
Circ Cardiovasc Genet. 2017 Aug;10(4):e001544
pubmed: 28768751
Brain. 2022 Jul 29;145(7):2507-2517
pubmed: 35088840
Nat Immunol. 2002 Feb;3(2):143-50
pubmed: 11812991
Alzheimers Dement. 2014 May;10(3):409-15
pubmed: 24035148
Neurology. 1998 Dec;51(6):1546-54
pubmed: 9855500
Genes Chromosomes Cancer. 2000 Jan;27(1):11-6
pubmed: 10564581
Neurology. 1993 Feb;43(2):250-60
pubmed: 8094895
Cancer. 1972 Oct;30(4):889-94
pubmed: 4116908
Alzheimers Dement. 2021 Mar;17(3):327-406
pubmed: 33756057
J Alzheimers Dis. 2013;34(3):769-80
pubmed: 23271318
PLoS One. 2016 Jan 08;11(1):e0146264
pubmed: 26745889
Cell Mol Life Sci. 2021 Nov;78(21-22):7081-7084
pubmed: 34498098
BMC Bioinformatics. 2020 Nov 23;21(1):533
pubmed: 33225898
Nucleic Acids Res. 2008 Dec;36(21):e138
pubmed: 18832372
Genome Res. 2007 Nov;17(11):1665-74
pubmed: 17921354
Genes Chromosomes Cancer. 1992 Jul;5(1):83-8
pubmed: 1384666
Nat Genet. 2014 Jun;46(6):624-8
pubmed: 24777449
Cell Biosci. 2021 Dec 12;11(1):205
pubmed: 34895331
Neurology. 2005 Dec 27;65(12):1863-72
pubmed: 16237129
Nature. 1963 Mar 16;197:1080-1
pubmed: 13964326
Biol Psychiatry. 2017 Jul 15;82(2):103-110
pubmed: 27773354
Arch Pathol Lab Med. 2008 Aug;132(8):1329-32
pubmed: 18684036
Neurology. 1984 Jul;34(7):939-44
pubmed: 6610841
Nucleic Acids Res. 2008 Nov;36(19):e126
pubmed: 18784189
Alzheimers Dement (N Y). 2015 Sep 1;1(2):103-110
pubmed: 26451386
Proc Natl Acad Sci U S A. 1993 Mar 1;90(5):1977-81
pubmed: 8446617
Alzheimers Dement. 2016 Nov;12(11):1186-1196
pubmed: 27692800
Nat Rev Neurol. 2021 Nov;17(11):689-701
pubmed: 34522039
Alzheimers Dement. 2019 Oct;15(10):1333-1347
pubmed: 31473137
Arch Gen Psychiatry. 2006 Feb;63(2):168-74
pubmed: 16461860
Sci Rep. 2021 Jul 26;11(1):15160
pubmed: 34312421
Mol Psychiatry. 2017 Jan;22(1):153-160
pubmed: 26976043
Nature. 1961 Sep 16;191:1178-80
pubmed: 13718573
Sci Rep. 2018 Aug 17;8(1):12316
pubmed: 30120341

Auteurs

Pablo García-González (P)

Research Center and Memory Clinic, Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08017 Barcelona, Spain.
CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, 28220 Madrid, Spain.

Itziar de Rojas (I)

Research Center and Memory Clinic, Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08017 Barcelona, Spain.
CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, 28220 Madrid, Spain.

Sonia Moreno-Grau (S)

Research Center and Memory Clinic, Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08017 Barcelona, Spain.
Galatea Bio Inc., Hialeah, FL 33010, USA.

Laura Montrreal (L)

Research Center and Memory Clinic, Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08017 Barcelona, Spain.

Raquel Puerta (R)

Research Center and Memory Clinic, Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08017 Barcelona, Spain.

Emilio Alarcón-Martín (E)

Research Center and Memory Clinic, Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08017 Barcelona, Spain.

Inés Quintela (I)

Grupo de Medicina Xenómica, Centro Nacional de Genotipado (CEGEN-PRB3-ISCIII), Universidade de Santiago de Compostela, 15705 Santiago de Compostela, Spain.

Adela Orellana (A)

Research Center and Memory Clinic, Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08017 Barcelona, Spain.

Victor Andrade (V)

Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Medical Faculty, University of Cologne, 50937 Cologne, Germany.
Department of Neurodegenerative Diseases and Geriatric Psychiatry, University Clinic Bonn, 53127 Bonn, Germany.

Pamela V Martino Adami (PVM)

Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Medical Faculty, University of Cologne, 50937 Cologne, Germany.

Stefanie Heilmann-Heimbach (S)

Institute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn, 53127 Bonn, Germany.

Pilar Gomez-Garre (P)

CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, 28220 Madrid, Spain.
Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología, Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, 41013 Sevilla, Spain.

María Teresa Periñán (MT)

CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, 28220 Madrid, Spain.
Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología, Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, 41013 Sevilla, Spain.

Ignacio Alvarez (I)

Fundació Docència i Recerca MútuaTerrassa, 08221 Terrassa, Spain.
Memory Disorders Unit, Department of Neurology, Hospital Universitari Mutua de Terrassa, 08221 Terrassa, Spain.

Monica Diez-Fairen (M)

Fundació Docència i Recerca MútuaTerrassa, 08221 Terrassa, Spain.
Memory Disorders Unit, Department of Neurology, Hospital Universitari Mutua de Terrassa, 08221 Terrassa, Spain.

Raul Nuñez Llaves (R)

Research Center and Memory Clinic, Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08017 Barcelona, Spain.

Claudia Olivé Roig (C)

Research Center and Memory Clinic, Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08017 Barcelona, Spain.

Guillermo Garcia-Ribas (G)

Hospital Universitario Ramon y Cajal, IRYCIS, 28034 Madrid, Spain.

Manuel Menéndez-González (M)

Servicio de Neurología, Hospital Universitario Central de Asturias, 33011 Oviedo, Spain.
Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33011 Asturias, Spain.
Departamento de Medicina, Universidad de Oviedo, 33011 Oviedo, Spain.

Carmen Martínez (C)

Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33011 Asturias, Spain.
Servicio de Neurología, Hospital Universitario de Cabueñes, 33394 Gijón, Spain.

Miquel Aguilar (M)

Fundació Docència i Recerca MútuaTerrassa, 08221 Terrassa, Spain.
Memory Disorders Unit, Department of Neurology, Hospital Universitari Mutua de Terrassa, 08221 Terrassa, Spain.

Mariateresa Buongiorno (M)

Fundació Docència i Recerca MútuaTerrassa, 08221 Terrassa, Spain.
Memory Disorders Unit, Department of Neurology, Hospital Universitari Mutua de Terrassa, 08221 Terrassa, Spain.

Emilio Franco-Macías (E)

Unidad de Demencias, Servicio de Neurología y Neurofisiología, Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío, CSIC, Universidad de Sevilla, 41013 Sevilla, Spain.

Maria Eugenia Saez (ME)

CAEBI, Centro Andaluz de Estudios Bioinformáticos, 41013 Sevilla, Spain.

Amanda Cano (A)

Research Center and Memory Clinic, Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08017 Barcelona, Spain.
CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, 28220 Madrid, Spain.

Maria J Bullido (MJ)

CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, 28220 Madrid, Spain.
Centro de Biología Molecular Severo Ochoa (UAM-CSIC), 28049 Madrid, Spain.
Instituto de Investigacion Sanitaria 'Hospital la Paz' (IdIPaz), 28029 Madrid, Spain.

Luis Miguel Real (LM)

Unidad Clínica de Enfermedades Infecciosas y Microbiología, Hospital Universitario de Valme, 41013 Sevilla, Spain.
Depatamento de Especialidades Quirúrgicas, Bioquímica e Inmunología, Facultad de Medicina, Universidad de Málaga, 29016 Málaga, Spain.

Eloy Rodríguez-Rodríguez (E)

CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, 28220 Madrid, Spain.
Neurology Service, Marqués de Valdecilla University Hospital, University of Cantabria and IDIVAL, 39008 Santander, Spain.

Jose Luís Royo (JL)

Depatamento de Especialidades Quirúrgicas, Bioquímica e Inmunología, Facultad de Medicina, Universidad de Málaga, 29016 Málaga, Spain.

Victoria Álvarez (V)

Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33011 Asturias, Spain.
Laboratorio de Genética, Hospital Universitario Central de Asturias, 33011 Oviedo, Spain.

Pau Pastor (P)

Fundació Docència i Recerca MútuaTerrassa, 08221 Terrassa, Spain.
Memory Disorders Unit, Department of Neurology, Hospital Universitari Mutua de Terrassa, 08221 Terrassa, Spain.

Gerard Piñol-Ripoll (G)

Unitat Trastorns Cognitius, Hospital Universitari Santa Maria de Lleida, 25198 Lleida, Spain.
Institut de Recerca Biomedica de Lleida (IRBLLeida), 25198 Lleida, Spain.

Pablo Mir (P)

CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, 28220 Madrid, Spain.
Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología, Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, 41013 Sevilla, Spain.
Departamento de Medicina, Facultad de Medicina, Universidad de Sevilla, 41009 Seville, Spain.

Miguel Calero Lara (MC)

CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, 28220 Madrid, Spain.
Instituto de Salud Carlos III, 28222 Majadahonda, Spain.

Miguel Medina Padilla (MM)

CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, 28220 Madrid, Spain.
CIEN Foundation/Queen Sofia Foundation Alzheimer Center, 28220 Madrid, Spain.

Pascual Sánchez-Juan (P)

CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, 28220 Madrid, Spain.
Neurology Service, Marqués de Valdecilla University Hospital, University of Cantabria and IDIVAL, 39008 Santander, Spain.
CIEN Foundation/Queen Sofia Foundation Alzheimer Center, 28220 Madrid, Spain.

Angel Carracedo (A)

Grupo de Medicina Xenómica, Centro Nacional de Genotipado (CEGEN-PRB3-ISCIII), Universidade de Santiago de Compostela, 15705 Santiago de Compostela, Spain.
Fundación Pública Galega de Medicina Xenómica-CIBERER-IDIS, 15705 Santiago de Compostela, Spain.

Sergi Valero (S)

Research Center and Memory Clinic, Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08017 Barcelona, Spain.
CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, 28220 Madrid, Spain.

Isabel Hernandez (I)

Research Center and Memory Clinic, Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08017 Barcelona, Spain.
CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, 28220 Madrid, Spain.

Lluis Tàrraga (L)

Research Center and Memory Clinic, Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08017 Barcelona, Spain.
CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, 28220 Madrid, Spain.

Alfredo Ramirez (A)

Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Medical Faculty, University of Cologne, 50937 Cologne, Germany.
Department of Neurodegenerative Diseases and Geriatric Psychiatry, University Clinic Bonn, 53127 Bonn, Germany.
German Center for Neurodegenerative Diseases (DZNE), 53127 Bonn, Germany.
Department of Psychiatry and Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases, San Antonio, TX 78229, USA.
Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931 Cologne, Germany.

Mercé Boada (M)

Research Center and Memory Clinic, Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08017 Barcelona, Spain.
CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, 28220 Madrid, Spain.

Agustín Ruiz (A)

Research Center and Memory Clinic, Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08017 Barcelona, Spain.
CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, 28220 Madrid, Spain.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female
Humans United States Aged Cross-Sectional Studies Medicare Part C
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH