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  1. Article ; Online: Education, occupation and retirement age effects on the age of onset of Alzheimer's disease.

    Lupton, Michelle K / Stahl, Daniel / Archer, Nicola / Foy, Catherine / Poppe, Michaela / Lovestone, Simon / Hollingworth, Paul / Williams, Julie / Owen, Micheal J / Dowzell, Kimberley / Abraham, Richard / Sims, Rebecca / Brayne, Carol / Rubinsztein, David / Gill, Michael / Lawlor, Brian / Lynch, Aoibhinn / Powell, John F

    International journal of geriatric psychiatry

    2009  Volume 25, Issue 1, Page(s) 30–36

    Abstract: Objective: To determine the effects of early life education, mid life employment and later life retirement age on the age of onset (AOO) of Alzheimer's disease (AD).: Methods: Multiple regression analyses were carried out using data for 1320 probable ...

    Abstract Objective: To determine the effects of early life education, mid life employment and later life retirement age on the age of onset (AOO) of Alzheimer's disease (AD).
    Methods: Multiple regression analyses were carried out using data for 1320 probable AD cases, of which 382 were males with employment and retirement age data, using informant based information on education and employment.
    Results: No relation was found between years of education, best qualification obtained, or employment variables in males and the AOO of AD. A significant effect of later retirement age in delaying the AOO of AD was seen in males.
    Conclusions: In this study no effect of education or employment was seen, although this may be due to limited variance in the study population. The significant effect of retirement age may have several explanations, the most interesting of which would be the suggestion that active employment later in life allows an individual to prolong their cognitive assets above the threshold for dementia.
    MeSH term(s) Age Factors ; Age of Onset ; Aged ; Aged, 80 and over ; Alzheimer Disease/epidemiology ; Alzheimer Disease/etiology ; Alzheimer Disease/psychology ; Cohort Studies ; Educational Status ; Employment ; Female ; Humans ; Male ; Middle Aged ; Regression Analysis ; Retirement ; Risk Factors
    Language English
    Publishing date 2009-05-20
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 806736-3
    ISSN 1099-1166 ; 0885-6230
    ISSN (online) 1099-1166
    ISSN 0885-6230
    DOI 10.1002/gps.2294
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  2. Article: Four components describe behavioral symptoms in 1,120 individuals with late-onset Alzheimer's disease.

    Hollingworth, Paul / Hamshere, Marian L / Moskvina, Valentina / Dowzell, Kimberley / Moore, Pamela J / Foy, Catherine / Archer, Nicola / Lynch, Aoibhinn / Lovestone, Simon / Brayne, Carol / Rubinsztein, David C / Lawlor, Brian / Gill, Mike / Owen, Michael J / Williams, Julie

    Journal of the American Geriatrics Society

    2006  Volume 54, Issue 9, Page(s) 1348–1354

    Abstract: Objectives: To investigate behavioral components of Alzheimer's disease (AD) and to analyze behavioral components in relation to disease severity, apolipoprotein E genotype (APOE), sex, years of education, age at onset, and cognitive impairment.: ... ...

    Abstract Objectives: To investigate behavioral components of Alzheimer's disease (AD) and to analyze behavioral components in relation to disease severity, apolipoprotein E genotype (APOE), sex, years of education, age at onset, and cognitive impairment.
    Design: Cross-sectional study.
    Setting: Data were collected from community-dwelling individuals and those residing in nursing homes.
    Participants: A total of 1,120 individuals meeting National Institute of Neurological and Communicative Disorders and Stroke/Alzheimer's Disease and Related Disorders Association criteria for late-onset probable AD.
    Measurements: Behavioral symptoms were assessed using the Neuropsychiatric Inventory. First-order polychoric correlations, controlling for disease severity, between the 12 symptom domain scores were estimated, and the resulting matrix underwent principal components analysis.
    Results: Four interpretable components were identified: behavioral dyscontrol (euphoria, disinhibition, aberrant motor behavior, and sleep and appetite disturbances), psychosis (delusions and hallucinations), mood (depression, anxiety, and apathy), and agitation (aggression and irritability). Scores on the four components were associated with severity of cognitive impairment. Higher behavioral dysfunction, agitation, and mood component scores were associated with lower age at onset. Behavioral dysfunction and mood component scores were associated with sex. None of the components were associated with age at assessment, years of education, or number of APOE epsilon4 alleles.
    Conclusion: Four behavioral components were identified that were comparable with those observed previously. Future analysis of these components will strengthen understanding of the underlying pathology of behavioral symptoms and AD.
    MeSH term(s) Age of Onset ; Aged ; Aged, 80 and over ; Alzheimer Disease/epidemiology ; Alzheimer Disease/genetics ; Alzheimer Disease/psychology ; Apolipoproteins E/genetics ; Behavioral Symptoms/diagnosis ; Behavioral Symptoms/etiology ; Cognition Disorders/etiology ; Cross-Sectional Studies ; Educational Status ; Female ; Genotype ; Humans ; Male ; Middle Aged ; Neuropsychological Tests ; Severity of Illness Index ; Sex Factors
    Chemical Substances Apolipoproteins E
    Language English
    Publishing date 2006-09-12
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 80363-7
    ISSN 1532-5415 ; 0002-8614
    ISSN (online) 1532-5415
    ISSN 0002-8614
    DOI 10.1111/j.1532-5415.2006.00854.x
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  3. Article ; Online: No evidence that extended tracts of homozygosity are associated with Alzheimer's disease.

    Sims, Rebecca / Dwyer, Sarah / Harold, Denise / Gerrish, Amy / Hollingworth, Paul / Chapman, Jade / Jones, Nicola / Abraham, Richard / Ivanov, Dobril / Pahwa, Jaspreet Singh / Moskvina, Valentina / Dowzell, Kimberley / Thomas, Charlene / Stretton, Alexandra / Lovestone, Simon / Powell, John / Proitsi, Petroula / Lupton, Michelle K / Brayne, Carol /
    Rubinsztein, David C / Gill, Michael / Lawlor, Brian / Lynch, Aoibhinn / Morgan, Kevin / Brown, Kristelle S / Passmore, Peter A / Craig, David / McGuiness, Bernadette / Todd, Stephen / Johnston, Janet A / Holmes, Clive / Mann, David / Smith, A David / Love, Seth / Kehoe, Patrick G / Hardy, John / Mead, Simon / Fox, Nick / Rossor, Martin / Collinge, John / Livingston, Gill / Bass, Nicholas J / Gurling, Hugh / McQuillin, Andrew / Jones, Lesley / Holmans, Peter A / O'Donovan, Michael / Owen, Michael J / Williams, Julie

    American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

    2011  Volume 156B, Issue 7, Page(s) 764–771

    Abstract: We sought to investigate the contribution of extended runs of homozygosity in a genome-wide association dataset of 1,955 Alzheimer's disease cases and 955 elderly screened controls genotyped for 529,205 autosomal single nucleotide polymorphisms. Tracts ... ...

    Abstract We sought to investigate the contribution of extended runs of homozygosity in a genome-wide association dataset of 1,955 Alzheimer's disease cases and 955 elderly screened controls genotyped for 529,205 autosomal single nucleotide polymorphisms. Tracts of homozygosity may mark regions inherited from a common ancestor and could reflect disease loci if observed more frequently in cases than controls. We found no excess of homozygous tracts in Alzheimer's disease cases compared to controls and no individual run of homozygosity showed association to Alzheimer's disease.
    MeSH term(s) Aged ; Aged, 80 and over ; Alzheimer Disease/genetics ; Case-Control Studies ; Chromosomes, Human, Pair 8/genetics ; Female ; Genes/genetics ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Homozygote ; Humans ; Male
    Language English
    Publishing date 2011-08-02
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2108616-3
    ISSN 1552-485X ; 1552-4841 ; 0148-7299
    ISSN (online) 1552-485X
    ISSN 1552-4841 ; 0148-7299
    DOI 10.1002/ajmg.b.31216
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  4. Article ; Online: The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease.

    Gerrish, Amy / Russo, Giancarlo / Richards, Alexander / Moskvina, Valentina / Ivanov, Dobril / Harold, Denise / Sims, Rebecca / Abraham, Richard / Hollingworth, Paul / Chapman, Jade / Hamshere, Marian / Pahwa, Jaspreet Singh / Dowzell, Kimberley / Williams, Amy / Jones, Nicola / Thomas, Charlene / Stretton, Alexandra / Morgan, Angharad R / Lovestone, Simon /
    Powell, John / Proitsi, Petroula / Lupton, Michelle K / Brayne, Carol / Rubinsztein, David C / Gill, Michael / Lawlor, Brian / Lynch, Aoibhinn / Morgan, Kevin / Brown, Kristelle S / Passmore, Peter A / Craig, David / McGuinness, Bernadette / Todd, Stephen / Johnston, Janet A / Holmes, Clive / Mann, David / Smith, A David / Love, Seth / Kehoe, Patrick G / Hardy, John / Mead, Simon / Fox, Nick / Rossor, Martin / Collinge, John / Maier, Wolfgang / Jessen, Frank / Kölsch, Heike / Heun, Reinhard / Schürmann, Britta / van den Bussche, Hendrik / Heuser, Isabella / Kornhuber, Johannes / Wiltfang, Jens / Dichgans, Martin / Frölich, Lutz / Hampel, Harald / Hüll, Michael / Rujescu, Dan / Goate, Alison M / Kauwe, John S K / Cruchaga, Carlos / Nowotny, Petra / Morris, John C / Mayo, Kevin / Livingston, Gill / Bass, Nicholas J / Gurling, Hugh / McQuillin, Andrew / Gwilliam, Rhian / Deloukas, Panagiotis / Davies, Gail / Harris, Sarah E / Starr, John M / Deary, Ian J / Al-Chalabi, Ammar / Shaw, Christopher E / Tsolaki, Magda / Singleton, Andrew B / Guerreiro, Rita / Mühleisen, Thomas W / Nöthen, Markus M / Moebus, Susanne / Jöckel, Karl-Heinz / Klopp, Norman / Wichmann, H-Erich / Carrasquillo, Minerva M / Pankratz, V Shane / Younkin, Steven G / Jones, Lesley / Holmans, Peter A / O'Donovan, Michael C / Owen, Michael J / Williams, Julie

    Journal of Alzheimer's disease : JAD

    2011  Volume 28, Issue 2, Page(s) 377–387

    Abstract: Rare mutations in AβPP, PSEN1, and PSEN2 cause uncommon early onset forms of Alzheimer's disease (AD), and common variants in MAPT are associated with risk of other neurodegenerative disorders. We sought to establish whether common genetic variation in ... ...

    Abstract Rare mutations in AβPP, PSEN1, and PSEN2 cause uncommon early onset forms of Alzheimer's disease (AD), and common variants in MAPT are associated with risk of other neurodegenerative disorders. We sought to establish whether common genetic variation in these genes confer risk to the common form of AD which occurs later in life (>65 years). We therefore tested single-nucleotide polymorphisms at these loci for association with late-onset AD (LOAD) in a large case-control sample consisting of 3,940 cases and 13,373 controls. Single-marker analysis did not identify any variants that reached genome-wide significance, a result which is supported by other recent genome-wide association studies. However, we did observe a significant association at the MAPT locus using a gene-wide approach (p = 0.009). We also observed suggestive association between AD and the marker rs9468, which defines the H1 haplotype, an extended haplotype that spans the MAPT gene and has previously been implicated in other neurodegenerative disorders including Parkinson's disease, progressive supranuclear palsy, and corticobasal degeneration. In summary common variants at AβPP, PSEN1, and PSEN2 and MAPT are unlikely to make strong contributions to susceptibility for LOAD. However, the gene-wide effect observed at MAPT indicates a possible contribution to disease risk which requires further study.
    MeSH term(s) Aged ; Aged, 80 and over ; Alzheimer Disease/genetics ; Amyloid beta-Protein Precursor/genetics ; Female ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genotype ; Humans ; Male ; Meta-Analysis as Topic ; Odds Ratio ; Polymorphism, Single Nucleotide/genetics ; Presenilin-1/genetics ; Presenilin-2/genetics ; tau Proteins/genetics
    Chemical Substances Amyloid beta-Protein Precursor ; MAPT protein, human ; PSEN1 protein, human ; Presenilin-1 ; Presenilin-2 ; tau Proteins
    Language English
    Publishing date 2011-10-19
    Publishing country Netherlands
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 1440127-7
    ISSN 1875-8908 ; 1387-2877
    ISSN (online) 1875-8908
    ISSN 1387-2877
    DOI 10.3233/JAD-2011-110824
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  5. Article ; Online: Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease.

    Jones, Lesley / Holmans, Peter A / Hamshere, Marian L / Harold, Denise / Moskvina, Valentina / Ivanov, Dobril / Pocklington, Andrew / Abraham, Richard / Hollingworth, Paul / Sims, Rebecca / Gerrish, Amy / Pahwa, Jaspreet Singh / Jones, Nicola / Stretton, Alexandra / Morgan, Angharad R / Lovestone, Simon / Powell, John / Proitsi, Petroula / Lupton, Michelle K /
    Brayne, Carol / Rubinsztein, David C / Gill, Michael / Lawlor, Brian / Lynch, Aoibhinn / Morgan, Kevin / Brown, Kristelle S / Passmore, Peter A / Craig, David / McGuinness, Bernadette / Todd, Stephen / Holmes, Clive / Mann, David / Smith, A David / Love, Seth / Kehoe, Patrick G / Mead, Simon / Fox, Nick / Rossor, Martin / Collinge, John / Maier, Wolfgang / Jessen, Frank / Schürmann, Britta / Heun, Reinhard / Kölsch, Heike / van den Bussche, Hendrik / Heuser, Isabella / Peters, Oliver / Kornhuber, Johannes / Wiltfang, Jens / Dichgans, Martin / Frölich, Lutz / Hampel, Harald / Hüll, Michael / Rujescu, Dan / Goate, Alison M / Kauwe, John S K / Cruchaga, Carlos / Nowotny, Petra / Morris, John C / Mayo, Kevin / Livingston, Gill / Bass, Nicholas J / Gurling, Hugh / McQuillin, Andrew / Gwilliam, Rhian / Deloukas, Panos / Al-Chalabi, Ammar / Shaw, Christopher E / Singleton, Andrew B / Guerreiro, Rita / Mühleisen, Thomas W / Nöthen, Markus M / Moebus, Susanne / Jöckel, Karl-Heinz / Klopp, Norman / Wichmann, H-Erich / Rüther, Eckhard / Carrasquillo, Minerva M / Pankratz, V Shane / Younkin, Steven G / Hardy, John / O'Donovan, Michael C / Owen, Michael J / Williams, Julie

    PloS one

    2010  Volume 5, Issue 11, Page(s) e13950

    Abstract: Background: Late Onset Alzheimer's disease (LOAD) is the leading cause of dementia. Recent large genome-wide association studies (GWAS) identified the first strongly supported LOAD susceptibility genes since the discovery of the involvement of APOE in ... ...

    Abstract Background: Late Onset Alzheimer's disease (LOAD) is the leading cause of dementia. Recent large genome-wide association studies (GWAS) identified the first strongly supported LOAD susceptibility genes since the discovery of the involvement of APOE in the early 1990s. We have now exploited these GWAS datasets to uncover key LOAD pathophysiological processes.
    Methodology: We applied a recently developed tool for mining GWAS data for biologically meaningful information to a LOAD GWAS dataset. The principal findings were then tested in an independent GWAS dataset.
    Principal findings: We found a significant overrepresentation of association signals in pathways related to cholesterol metabolism and the immune response in both of the two largest genome-wide association studies for LOAD.
    Significance: Processes related to cholesterol metabolism and the innate immune response have previously been implicated by pathological and epidemiological studies of Alzheimer's disease, but it has been unclear whether those findings reflected primary aetiological events or consequences of the disease process. Our independent evidence from two large studies now demonstrates that these processes are aetiologically relevant, and suggests that they may be suitable targets for novel and existing therapeutic approaches.
    MeSH term(s) Alzheimer Disease/genetics ; Alzheimer Disease/immunology ; Alzheimer Disease/metabolism ; Apolipoproteins E/genetics ; Apolipoproteins E/metabolism ; Cholesterol/metabolism ; Chromosome Mapping ; Genetic Predisposition to Disease/genetics ; Genome, Human ; Genome-Wide Association Study ; Humans ; Immune System/metabolism ; Polymorphism, Single Nucleotide
    Chemical Substances Apolipoproteins E ; Cholesterol (97C5T2UQ7J)
    Language English
    Publishing date 2010-11-15
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2267670-3
    ISSN 1932-6203 ; 1932-6203
    ISSN (online) 1932-6203
    ISSN 1932-6203
    DOI 10.1371/journal.pone.0013950
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  6. Article ; Online: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.

    Harold, Denise / Abraham, Richard / Hollingworth, Paul / Sims, Rebecca / Gerrish, Amy / Hamshere, Marian L / Pahwa, Jaspreet Singh / Moskvina, Valentina / Dowzell, Kimberley / Williams, Amy / Jones, Nicola / Thomas, Charlene / Stretton, Alexandra / Morgan, Angharad R / Lovestone, Simon / Powell, John / Proitsi, Petroula / Lupton, Michelle K / Brayne, Carol /
    Rubinsztein, David C / Gill, Michael / Lawlor, Brian / Lynch, Aoibhinn / Morgan, Kevin / Brown, Kristelle S / Passmore, Peter A / Craig, David / McGuinness, Bernadette / Todd, Stephen / Holmes, Clive / Mann, David / Smith, A David / Love, Seth / Kehoe, Patrick G / Hardy, John / Mead, Simon / Fox, Nick / Rossor, Martin / Collinge, John / Maier, Wolfgang / Jessen, Frank / Schürmann, Britta / Heun, Reinhard / van den Bussche, Hendrik / Heuser, Isabella / Kornhuber, Johannes / Wiltfang, Jens / Dichgans, Martin / Frölich, Lutz / Hampel, Harald / Hüll, Michael / Rujescu, Dan / Goate, Alison M / Kauwe, John S K / Cruchaga, Carlos / Nowotny, Petra / Morris, John C / Mayo, Kevin / Sleegers, Kristel / Bettens, Karolien / Engelborghs, Sebastiaan / De Deyn, Peter P / Van Broeckhoven, Christine / Livingston, Gill / Bass, Nicholas J / Gurling, Hugh / McQuillin, Andrew / Gwilliam, Rhian / Deloukas, Panagiotis / Al-Chalabi, Ammar / Shaw, Christopher E / Tsolaki, Magda / Singleton, Andrew B / Guerreiro, Rita / Mühleisen, Thomas W / Nöthen, Markus M / Moebus, Susanne / Jöckel, Karl-Heinz / Klopp, Norman / Wichmann, H-Erich / Carrasquillo, Minerva M / Pankratz, V Shane / Younkin, Steven G / Holmans, Peter A / O'Donovan, Michael / Owen, Michael J / Williams, Julie

    Nature genetics

    2009  Volume 41, Issue 10, Page(s) 1088–1093

    Abstract: We undertook a two-stage genome-wide association study (GWAS) of Alzheimer's disease (AD) involving over 16,000 individuals, the most powerful AD GWAS to date. In stage 1 (3,941 cases and 7,848 controls), we replicated the established association with ... ...

    Abstract We undertook a two-stage genome-wide association study (GWAS) of Alzheimer's disease (AD) involving over 16,000 individuals, the most powerful AD GWAS to date. In stage 1 (3,941 cases and 7,848 controls), we replicated the established association with the apolipoprotein E (APOE) locus (most significant SNP, rs2075650, P = 1.8 x 10(-157)) and observed genome-wide significant association with SNPs at two loci not previously associated with the disease: at the CLU (also known as APOJ) gene (rs11136000, P = 1.4 x 10(-9)) and 5' to the PICALM gene (rs3851179, P = 1.9 x 10(-8)). These associations were replicated in stage 2 (2,023 cases and 2,340 controls), producing compelling evidence for association with Alzheimer's disease in the combined dataset (rs11136000, P = 8.5 x 10(-10), odds ratio = 0.86; rs3851179, P = 1.3 x 10(-9), odds ratio = 0.86).
    MeSH term(s) Alzheimer Disease/genetics ; Chromosomes, Human ; Clusterin/genetics ; Genetic Predisposition to Disease ; Genome, Human ; Genome-Wide Association Study ; Humans ; Monomeric Clathrin Assembly Proteins/genetics ; Polymorphism, Single Nucleotide
    Chemical Substances CLU protein, human ; Clusterin ; Monomeric Clathrin Assembly Proteins ; PICALM protein, human
    Language English
    Publishing date 2009-09-06
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 1108734-1
    ISSN 1546-1718 ; 1061-4036
    ISSN (online) 1546-1718
    ISSN 1061-4036
    DOI 10.1038/ng.440
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  7. Article ; Online: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

    Kunkle, Brian W / Grenier-Boley, Benjamin / Sims, Rebecca / Bis, Joshua C / Damotte, Vincent / Naj, Adam C / Boland, Anne / Vronskaya, Maria / van der Lee, Sven J / Amlie-Wolf, Alexandre / Bellenguez, Céline / Frizatti, Aura / Chouraki, Vincent / Martin, Eden R / Sleegers, Kristel / Badarinarayan, Nandini / Jakobsdottir, Johanna / Hamilton-Nelson, Kara L / Moreno-Grau, Sonia /
    Olaso, Robert / Raybould, Rachel / Chen, Yuning / Kuzma, Amanda B / Hiltunen, Mikko / Morgan, Taniesha / Ahmad, Shahzad / Vardarajan, Badri N / Epelbaum, Jacques / Hoffmann, Per / Boada, Merce / Beecham, Gary W / Garnier, Jean-Guillaume / Harold, Denise / Fitzpatrick, Annette L / Valladares, Otto / Moutet, Marie-Laure / Gerrish, Amy / Smith, Albert V / Qu, Liming / Bacq, Delphine / Denning, Nicola / Jian, Xueqiu / Zhao, Yi / Del Zompo, Maria / Fox, Nick C / Choi, Seung-Hoan / Mateo, Ignacio / Hughes, Joseph T / Adams, Hieab H / Malamon, John / Sanchez-Garcia, Florentino / Patel, Yogen / Brody, Jennifer A / Dombroski, Beth A / Naranjo, Maria Candida Deniz / Daniilidou, Makrina / Eiriksdottir, Gudny / Mukherjee, Shubhabrata / Wallon, David / Uphill, James / Aspelund, Thor / Cantwell, Laura B / Garzia, Fabienne / Galimberti, Daniela / Hofer, Edith / Butkiewicz, Mariusz / Fin, Bertrand / Scarpini, Elio / Sarnowski, Chloe / Bush, Will S / Meslage, Stéphane / Kornhuber, Johannes / White, Charles C / Song, Yuenjoo / Barber, Robert C / Engelborghs, Sebastiaan / Sordon, Sabrina / Voijnovic, Dina / Adams, Perrie M / Vandenberghe, Rik / Mayhaus, Manuel / Cupples, L Adrienne / Albert, Marilyn S / De Deyn, Peter P / Gu, Wei / Himali, Jayanadra J / Beekly, Duane / Squassina, Alessio / Hartmann, Annette M / Orellana, Adelina / Blacker, Deborah / Rodriguez-Rodriguez, Eloy / Lovestone, Simon / Garcia, Melissa E / Doody, Rachelle S / Munoz-Fernadez, Carmen / Sussams, Rebecca / Lin, Honghuang / Fairchild, Thomas J / Benito, Yolanda A / Holmes, Clive / Karamujić-Čomić, Hata / Frosch, Matthew P / Thonberg, Hakan / Maier, Wolfgang / Roshchupkin, Gennady / Ghetti, Bernardino / Giedraitis, Vilmantas / Kawalia, Amit / Li, Shuo / Huebinger, Ryan M / Kilander, Lena / Moebus, Susanne / Hernández, Isabel / Kamboh, M Ilyas / Brundin, RoseMarie / Turton, James / Yang, Qiong / Katz, Mindy J / Concari, Letizia / Lord, Jenny / Beiser, Alexa S / Keene, C Dirk / Helisalmi, Seppo / Kloszewska, Iwona / Kukull, Walter A / Koivisto, Anne Maria / Lynch, Aoibhinn / Tarraga, Lluís / Larson, Eric B / Haapasalo, Annakaisa / Lawlor, Brian / Mosley, Thomas H / Lipton, Richard B / Solfrizzi, Vincenzo / Gill, Michael / Longstreth, W T / Montine, Thomas J / Frisardi, Vincenza / Diez-Fairen, Monica / Rivadeneira, Fernando / Petersen, Ronald C / Deramecourt, Vincent / Alvarez, Ignacio / Salani, Francesca / Ciaramella, Antonio / Boerwinkle, Eric / Reiman, Eric M / Fievet, Nathalie / Rotter, Jerome I / Reisch, Joan S / Hanon, Olivier / Cupidi, Chiara / Andre Uitterlinden, A G / Royall, Donald R / Dufouil, Carole / Maletta, Raffaele Giovanni / de Rojas, Itziar / Sano, Mary / Brice, Alexis / Cecchetti, Roberta / George-Hyslop, Peter St / Ritchie, Karen / Tsolaki, Magda / Tsuang, Debby W / Dubois, Bruno / Craig, David / Wu, Chuang-Kuo / Soininen, Hilkka / Avramidou, Despoina / Albin, Roger L / Fratiglioni, Laura / Germanou, Antonia / Apostolova, Liana G / Keller, Lina / Koutroumani, Maria / Arnold, Steven E / Panza, Francesco / Gkatzima, Olymbia / Asthana, Sanjay / Hannequin, Didier / Whitehead, Patrice / Atwood, Craig S / Caffarra, Paolo / Hampel, Harald / Quintela, Inés / Carracedo, Ángel / Lannfelt, Lars / Rubinsztein, David C / Barnes, Lisa L / Pasquier, Florence / Frölich, Lutz / Barral, Sandra / McGuinness, Bernadette / Beach, Thomas G / Johnston, Janet A / Becker, James T / Passmore, Peter / Bigio, Eileen H / Schott, Jonathan M / Bird, Thomas D / Warren, Jason D / Boeve, Bradley F / Lupton, Michelle K / Bowen, James D / Proitsi, Petra / Boxer, Adam / Powell, John F / Burke, James R / Kauwe, John S K / Burns, Jeffrey M / Mancuso, Michelangelo / Buxbaum, Joseph D / Bonuccelli, Ubaldo / Cairns, Nigel J / McQuillin, Andrew / Cao, Chuanhai / Livingston, Gill / Carlson, Chris S / Bass, Nicholas J / Carlsson, Cynthia M / Hardy, John / Carney, Regina M / Bras, Jose / Carrasquillo, Minerva M / Guerreiro, Rita / Allen, Mariet / Chui, Helena C / Fisher, Elizabeth / Masullo, Carlo / Crocco, Elizabeth A / DeCarli, Charles / Bisceglio, Gina / Dick, Malcolm / Ma, Li / Duara, Ranjan / Graff-Radford, Neill R / Evans, Denis A / Hodges, Angela / Faber, Kelley M / Scherer, Martin / Fallon, Kenneth B / Riemenschneider, Matthias / Fardo, David W / Heun, Reinhard / Farlow, Martin R / Kölsch, Heike / Ferris, Steven / Leber, Markus / Foroud, Tatiana M / Heuser, Isabella / Galasko, Douglas R / Giegling, Ina / Gearing, Marla / Hüll, Michael / Geschwind, Daniel H / Gilbert, John R / Morris, John / Green, Robert C / Mayo, Kevin / Growdon, John H / Feulner, Thomas / Hamilton, Ronald L / Harrell, Lindy E / Drichel, Dmitriy / Honig, Lawrence S / Cushion, Thomas D / Huentelman, Matthew J / Hollingworth, Paul / Hulette, Christine M / Hyman, Bradley T / Marshall, Rachel / Jarvik, Gail P / Meggy, Alun / Abner, Erin / Menzies, Georgina E / Jin, Lee-Way / Leonenko, Ganna / Real, Luis M / Jun, Gyungah R / Baldwin, Clinton T / Grozeva, Detelina / Karydas, Anna / Russo, Giancarlo / Kaye, Jeffrey A / Kim, Ronald / Jessen, Frank / Kowall, Neil W / Vellas, Bruno / Kramer, Joel H / Vardy, Emma / LaFerla, Frank M / Jöckel, Karl-Heinz / Lah, James J / Dichgans, Martin / Leverenz, James B / Mann, David / Levey, Allan I / Pickering-Brown, Stuart / Lieberman, Andrew P / Klopp, Norman / Lunetta, Kathryn L / Wichmann, H-Erich / Lyketsos, Constantine G / Morgan, Kevin / Marson, Daniel C / Brown, Kristelle / Martiniuk, Frank / Medway, Christopher / Mash, Deborah C / Nöthen, Markus M / Masliah, Eliezer / Hooper, Nigel M / McCormick, Wayne C / Daniele, Antonio / McCurry, Susan M / Bayer, Anthony / McDavid, Andrew N / Gallacher, John / McKee, Ann C / van den Bussche, Hendrik / Mesulam, Marsel / Brayne, Carol / Miller, Bruce L / Riedel-Heller, Steffi / Miller, Carol A / Miller, Joshua W / Al-Chalabi, Ammar / Morris, John C / Shaw, Christopher E / Myers, Amanda J / Wiltfang, Jens / O'Bryant, Sid / Olichney, John M / Alvarez, Victoria / Parisi, Joseph E / Singleton, Andrew B / Paulson, Henry L / Collinge, John / Perry, William R / Mead, Simon / Peskind, Elaine / Cribbs, David H / Rossor, Martin / Pierce, Aimee / Ryan, Natalie S / Poon, Wayne W / Nacmias, Benedetta / Potter, Huntington / Sorbi, Sandro / Quinn, Joseph F / Sacchinelli, Eleonora / Raj, Ashok / Spalletta, Gianfranco / Raskind, Murray / Caltagirone, Carlo / Bossù, Paola / Orfei, Maria Donata / Reisberg, Barry / Clarke, Robert / Reitz, Christiane / Smith, A David / Ringman, John M / Warden, Donald / Roberson, Erik D / Wilcock, Gordon / Rogaeva, Ekaterina / Bruni, Amalia Cecilia / Rosen, Howard J / Gallo, Maura / Rosenberg, Roger N / Ben-Shlomo, Yoav / Sager, Mark A / Mecocci, Patrizia / Saykin, Andrew J / Pastor, Pau / Cuccaro, Michael L / Vance, Jeffery M / Schneider, Julie A / Schneider, Lori S / Slifer, Susan / Seeley, William W / Smith, Amanda G / Sonnen, Joshua A / Spina, Salvatore / Stern, Robert A / Swerdlow, Russell H / Tang, Mitchell / Tanzi, Rudolph E / Trojanowski, John Q / Troncoso, Juan C / Van Deerlin, Vivianna M / Van Eldik, Linda J / Vinters, Harry V / Vonsattel, Jean Paul / Weintraub, Sandra / Welsh-Bohmer, Kathleen A / Wilhelmsen, Kirk C / Williamson, Jennifer / Wingo, Thomas S / Woltjer, Randall L / Wright, Clinton B / Yu, Chang-En / Yu, Lei / Saba, Yasaman / Pilotto, Alberto / Bullido, Maria J / Peters, Oliver / Crane, Paul K / Bennett, David / Bosco, Paola / Coto, Eliecer / Boccardi, Virginia / De Jager, Phil L / Lleo, Alberto / Warner, Nick / Lopez, Oscar L / Ingelsson, Martin / Deloukas, Panagiotis / Cruchaga, Carlos / Graff, Caroline / Gwilliam, Rhian / Fornage, Myriam / Goate, Alison M / Sanchez-Juan, Pascual / Kehoe, Patrick G / Amin, Najaf / Ertekin-Taner, Nilifur / Berr, Claudine / Debette, Stéphanie / Love, Seth / Launer, Lenore J / Younkin, Steven G / Dartigues, Jean-Francois / Corcoran, Chris / Ikram, M Arfan / Dickson, Dennis W / Nicolas, Gael / Campion, Dominique / Tschanz, JoAnn / Schmidt, Helena / Hakonarson, Hakon / Clarimon, Jordi / Munger, Ron / Schmidt, Reinhold / Farrer, Lindsay A / Van Broeckhoven, Christine / C O'Donovan, Michael / DeStefano, Anita L / Jones, Lesley / Haines, Jonathan L / Deleuze, Jean-Francois / Owen, Michael J / Gudnason, Vilmundur / Mayeux, Richard / Escott-Price, Valentina / Psaty, Bruce M / Ramirez, Alfredo / Wang, Li-San / Ruiz, Agustin / van Duijn, Cornelia M / Holmans, Peter A / Seshadri, Sudha / Williams, Julie / Amouyel, Phillippe / Schellenberg, Gerard D / Lambert, Jean-Charles / Pericak-Vance, Margaret A

    Nature genetics

    2019  Volume 51, Issue 3, Page(s) 414–430

    Abstract: Risk for late-onset Alzheimer's disease (LOAD), the most prevalent dementia, is partially driven by genetics. To identify LOAD risk loci, we performed a large genome-wide association meta-analysis of clinically diagnosed LOAD (94,437 individuals). We ... ...

    Abstract Risk for late-onset Alzheimer's disease (LOAD), the most prevalent dementia, is partially driven by genetics. To identify LOAD risk loci, we performed a large genome-wide association meta-analysis of clinically diagnosed LOAD (94,437 individuals). We confirm 20 previous LOAD risk loci and identify five new genome-wide loci (IQCK, ACE, ADAM10, ADAMTS1, and WWOX), two of which (ADAM10, ACE) were identified in a recent genome-wide association (GWAS)-by-familial-proxy of Alzheimer's or dementia. Fine-mapping of the human leukocyte antigen (HLA) region confirms the neurological and immune-mediated disease haplotype HLA-DR15 as a risk factor for LOAD. Pathway analysis implicates immunity, lipid metabolism, tau binding proteins, and amyloid precursor protein (APP) metabolism, showing that genetic variants affecting APP and Aβ processing are associated not only with early-onset autosomal dominant Alzheimer's disease but also with LOAD. Analyses of risk genes and pathways show enrichment for rare variants (P = 1.32 × 10
    MeSH term(s) Aged ; Alzheimer Disease/genetics ; Amyloid beta-Peptides/genetics ; Case-Control Studies ; Female ; Genetic Loci/genetics ; Genetic Predisposition to Disease/genetics ; Genetic Testing/methods ; Genome-Wide Association Study/methods ; Haplotypes/genetics ; Humans ; Immunity/genetics ; Lipid Metabolism/genetics ; Lipids/genetics ; Male ; tau Proteins/genetics
    Chemical Substances Amyloid beta-Peptides ; Lipids ; tau Proteins
    Language English
    Publishing date 2019-02-28
    Publishing country United States
    Document type Journal Article ; Meta-Analysis ; Research Support, Non-U.S. Gov't
    ZDB-ID 1108734-1
    ISSN 1546-1718 ; 1061-4036
    ISSN (online) 1546-1718
    ISSN 1061-4036
    DOI 10.1038/s41588-019-0358-2
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

    Kunkle, Brian W / Grenier-Boley, Benjamin / Sims, Rebecca / Bis, Joshua C / Damotte, Vincent / Naj, Adam C / Boland, Anne / Vronskaya, Maria / van der Lee, Sven J / Amlie-Wolf, Alexandre / Bellenguez, Céline / Frizatti, Aura / Chouraki, Vincent / Martin, Eden R / Sleegers, Kristel / Badarinarayan, Nandini / Jakobsdottir, Johanna / Hamilton-Nelson, Kara L / Moreno-Grau, Sonia /
    Olaso, Robert / Raybould, Rachel / Chen, Yuning / Kuzma, Amanda B / Hiltunen, Mikko / Morgan, Taniesha / Ahmad, Shahzad / Vardarajan, Badri N / Epelbaum, Jacques / Hoffmann, Per / Boada, Merce / Beecham, Gary W / Garnier, Jean-Guillaume / Harold, Denise / Fitzpatrick, Annette L / Valladares, Otto / Moutet, Marie-Laure / Gerrish, Amy / Smith, Albert V / Qu, Liming / Bacq, Delphine / Denning, Nicola / Jian, Xueqiu / Zhao, Yi / Del Zompo, Maria / Fox, Nick C / Choi, Seung-Hoan / Mateo, Ignacio / Hughes, Joseph T / Adams, Hieab H / Malamon, John / Sanchez-Garcia, Florentino / Patel, Yogen / Brody, Jennifer A / Dombroski, Beth A / Naranjo, Maria Candida Deniz / Daniilidou, Makrina / Eiriksdottir, Gudny / Mukherjee, Shubhabrata / Wallon, David / Uphill, James / Aspelund, Thor / Cantwell, Laura B / Garzia, Fabienne / Galimberti, Daniela / Hofer, Edith / Butkiewicz, Mariusz / Fin, Bertrand / Scarpini, Elio / Sarnowski, Chloe / Bush, Will S / Meslage, Stéphane / Kornhuber, Johannes / White, Charles C / Song, Yuenjoo / Barber, Robert C / Engelborghs, Sebastiaan / Sordon, Sabrina / Voijnovic, Dina / Adams, Perrie M / Vandenberghe, Rik / Mayhaus, Manuel / Cupples, L Adrienne / Albert, Marilyn S / De Deyn, Peter P / Gu, Wei / Himali, Jayanadra J / Beekly, Duane / Squassina, Alessio / Hartmann, Annette M / Orellana, Adelina / Blacker, Deborah / Rodriguez-Rodriguez, Eloy / Lovestone, Simon / Garcia, Melissa E / Doody, Rachelle S / Munoz-Fernadez, Carmen / Sussams, Rebecca / Lin, Honghuang / Fairchild, Thomas J / Benito, Yolanda A / Holmes, Clive / Karamujić-Čomić, Hata / Frosch, Matthew P / Thonberg, Hakan / Maier, Wolfgang / Roshchupkin, Gennady / Ghetti, Bernardino / Giedraitis, Vilmantas / Kawalia, Amit / Li, Shuo / Huebinger, Ryan M / Kilander, Lena / Moebus, Susanne / Hernández, Isabel / Kamboh, M Ilyas / Brundin, RoseMarie / Turton, James / Yang, Qiong / Katz, Mindy J / Concari, Letizia / Lord, Jenny / Beiser, Alexa S / Keene, C Dirk / Helisalmi, Seppo / Kloszewska, Iwona / Kukull, Walter A / Koivisto, Anne Maria / Lynch, Aoibhinn / Tarraga, Lluís / Larson, Eric B / Haapasalo, Annakaisa / Lawlor, Brian / Mosley, Thomas H / Lipton, Richard B / Solfrizzi, Vincenzo / Gill, Michael / Longstreth, W T / Montine, Thomas J / Frisardi, Vincenza / Diez-Fairen, Monica / Rivadeneira, Fernando / Petersen, Ronald C / Deramecourt, Vincent / Alvarez, Ignacio / Salani, Francesca / Ciaramella, Antonio / Boerwinkle, Eric / Reiman, Eric M / Fievet, Nathalie / Rotter, Jerome I / Reisch, Joan S / Hanon, Olivier / Cupidi, Chiara / Uitterlinden, A G Andre / Royall, Donald R / Dufouil, Carole / Maletta, Raffaele Giovanni / de Rojas, Itziar / Sano, Mary / Brice, Alexis / Cecchetti, Roberta / George-Hyslop, Peter St / Ritchie, Karen / Tsolaki, Magda / Tsuang, Debby W / Dubois, Bruno / Craig, David / Wu, Chuang-Kuo / Soininen, Hilkka / Avramidou, Despoina / Albin, Roger L / Fratiglioni, Laura / Germanou, Antonia / Apostolova, Liana G / Keller, Lina / Koutroumani, Maria / Arnold, Steven E / Panza, Francesco / Gkatzima, Olymbia / Asthana, Sanjay / Hannequin, Didier / Whitehead, Patrice / Atwood, Craig S / Caffarra, Paolo / Hampel, Harald / Quintela, Inés / Carracedo, Ángel / Lannfelt, Lars / Rubinsztein, David C / Barnes, Lisa L / Pasquier, Florence / Frölich, Lutz / Barral, Sandra / McGuinness, Bernadette / Beach, Thomas G / Johnston, Janet A / Becker, James T / Passmore, Peter / Bigio, Eileen H / Schott, Jonathan M / Bird, Thomas D / Warren, Jason D / Boeve, Bradley F / Lupton, Michelle K / Bowen, James D / Proitsi, Petra / Boxer, Adam / Powell, John F / Burke, James R / Kauwe, John S K / Burns, Jeffrey M / Mancuso, Michelangelo / Buxbaum, Joseph D / Bonuccelli, Ubaldo / Cairns, Nigel J / McQuillin, Andrew / Cao, Chuanhai / Livingston, Gill / Carlson, Chris S / Bass, Nicholas J / Carlsson, Cynthia M / Hardy, John / Carney, Regina M / Bras, Jose / Carrasquillo, Minerva M / Guerreiro, Rita / Allen, Mariet / Chui, Helena C / Fisher, Elizabeth / Masullo, Carlo / Crocco, Elizabeth A / DeCarli, Charles / Bisceglio, Gina / Dick, Malcolm / Ma, Li / Duara, Ranjan / Graff-Radford, Neill R / Evans, Denis A / Hodges, Angela / Faber, Kelley M / Scherer, Martin / Fallon, Kenneth B / Riemenschneider, Matthias / Fardo, David W / Heun, Reinhard / Farlow, Martin R / Kölsch, Heike / Ferris, Steven / Leber, Markus / Foroud, Tatiana M / Heuser, Isabella / Galasko, Douglas R / Giegling, Ina / Gearing, Marla / Hüll, Michael / Geschwind, Daniel H / Gilbert, John R / Morris, John / Green, Robert C / Mayo, Kevin / Growdon, John H / Feulner, Thomas / Hamilton, Ronald L / Harrell, Lindy E / Drichel, Dmitriy / Honig, Lawrence S / Cushion, Thomas D / Huentelman, Matthew J / Hollingworth, Paul / Hulette, Christine M / Hyman, Bradley T / Marshall, Rachel / Jarvik, Gail P / Meggy, Alun / Abner, Erin / Menzies, Georgina E / Jin, Lee-Way / Leonenko, Ganna / Real, Luis M / Jun, Gyungah R / Baldwin, Clinton T / Grozeva, Detelina / Karydas, Anna / Russo, Giancarlo / Kaye, Jeffrey A / Kim, Ronald / Jessen, Frank / Kowall, Neil W / Vellas, Bruno / Kramer, Joel H / Vardy, Emma / LaFerla, Frank M / Jöckel, Karl-Heinz / Lah, James J / Dichgans, Martin / Leverenz, James B / Mann, David / Levey, Allan I / Pickering-Brown, Stuart / Lieberman, Andrew P / Klopp, Norman / Lunetta, Kathryn L / Wichmann, H-Erich / Lyketsos, Constantine G / Morgan, Kevin / Marson, Daniel C / Brown, Kristelle / Martiniuk, Frank / Medway, Christopher / Mash, Deborah C / Nöthen, Markus M / Masliah, Eliezer / Hooper, Nigel M / McCormick, Wayne C / Daniele, Antonio / McCurry, Susan M / Bayer, Anthony / McDavid, Andrew N / Gallacher, John / McKee, Ann C / van den Bussche, Hendrik / Mesulam, Marsel / Brayne, Carol / Miller, Bruce L / Riedel-Heller, Steffi / Miller, Carol A / Miller, Joshua W / Al-Chalabi, Ammar / Morris, John C / Shaw, Christopher E / Myers, Amanda J / Wiltfang, Jens / O'Bryant, Sid / Olichney, John M / Alvarez, Victoria / Parisi, Joseph E / Singleton, Andrew B / Paulson, Henry L / Collinge, John / Perry, William R / Mead, Simon / Peskind, Elaine / Cribbs, David H / Rossor, Martin / Pierce, Aimee / Ryan, Natalie S / Poon, Wayne W / Nacmias, Benedetta / Potter, Huntington / Sorbi, Sandro / Quinn, Joseph F / Sacchinelli, Eleonora / Raj, Ashok / Spalletta, Gianfranco / Raskind, Murray / Caltagirone, Carlo / Bossù, Paola / Orfei, Maria Donata / Reisberg, Barry / Clarke, Robert / Reitz, Christiane / Smith, A David / Ringman, John M / Warden, Donald / Roberson, Erik D / Wilcock, Gordon / Rogaeva, Ekaterina / Bruni, Amalia Cecilia / Rosen, Howard J / Gallo, Maura / Rosenberg, Roger N / Ben-Shlomo, Yoav / Sager, Mark A / Mecocci, Patrizia / Saykin, Andrew J / Pastor, Pau / Cuccaro, Michael L / Vance, Jeffery M / Schneider, Julie A / Schneider, Lori S / Slifer, Susan / Seeley, William W / Smith, Amanda G / Sonnen, Joshua A / Spina, Salvatore / Stern, Robert A / Swerdlow, Russell H / Tang, Mitchell / Tanzi, Rudolph E / Trojanowski, John Q / Troncoso, Juan C / Van Deerlin, Vivianna M / Van Eldik, Linda J / Vinters, Harry V / Vonsattel, Jean Paul / Weintraub, Sandra / Welsh-Bohmer, Kathleen A / Wilhelmsen, Kirk C / Williamson, Jennifer / Wingo, Thomas S / Woltjer, Randall L / Wright, Clinton B / Yu, Chang-En / Yu, Lei / Saba, Yasaman / Pilotto, Alberto / Bullido, Maria J / Peters, Oliver / Crane, Paul K / Bennett, David / Bosco, Paola / Coto, Eliecer / Boccardi, Virginia / De Jager, Phil L / Lleo, Alberto / Warner, Nick / Lopez, Oscar L / Ingelsson, Martin / Deloukas, Panagiotis / Cruchaga, Carlos / Graff, Caroline / Gwilliam, Rhian / Fornage, Myriam / Goate, Alison M / Sanchez-Juan, Pascual / Kehoe, Patrick G / Amin, Najaf / Ertekin-Taner, Nilifur / Berr, Claudine / Debette, Stéphanie / Love, Seth / Launer, Lenore J / Younkin, Steven G / Dartigues, Jean-Francois / Corcoran, Chris / Ikram, M Arfan / Dickson, Dennis W / Nicolas, Gael / Campion, Dominique / Tschanz, JoAnn / Schmidt, Helena / Hakonarson, Hakon / Clarimon, Jordi / Munger, Ron / Schmidt, Reinhold / Farrer, Lindsay A / Van Broeckhoven, Christine / O'Donovan, Michael C / DeStefano, Anita L / Jones, Lesley / Haines, Jonathan L / Deleuze, Jean-Francois / Owen, Michael J / Gudnason, Vilmundur / Mayeux, Richard / Escott-Price, Valentina / Psaty, Bruce M / Ramirez, Alfredo / Wang, Li-San / Ruiz, Agustin / van Duijn, Cornelia M / Holmans, Peter A / Seshadri, Sudha / Williams, Julie / Amouyel, Phillippe / Schellenberg, Gerard D / Lambert, Jean-Charles / Pericak-Vance, Margaret A

    Nature genetics

    2019  Volume 51, Issue 9, Page(s) 1423–1424

    Abstract: An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...

    Abstract An amendment to this paper has been published and can be accessed via a link at the top of the paper.
    Language English
    Publishing date 2019-10-25
    Publishing country United States
    Document type Published Erratum
    ZDB-ID 1108734-1
    ISSN 1546-1718 ; 1061-4036
    ISSN (online) 1546-1718
    ISSN 1061-4036
    DOI 10.1038/s41588-019-0495-7
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.

    Hollingworth, Paul / Harold, Denise / Sims, Rebecca / Gerrish, Amy / Lambert, Jean-Charles / Carrasquillo, Minerva M / Abraham, Richard / Hamshere, Marian L / Pahwa, Jaspreet Singh / Moskvina, Valentina / Dowzell, Kimberley / Jones, Nicola / Stretton, Alexandra / Thomas, Charlene / Richards, Alex / Ivanov, Dobril / Widdowson, Caroline / Chapman, Jade / Lovestone, Simon /
    Powell, John / Proitsi, Petroula / Lupton, Michelle K / Brayne, Carol / Rubinsztein, David C / Gill, Michael / Lawlor, Brian / Lynch, Aoibhinn / Brown, Kristelle S / Passmore, Peter A / Craig, David / McGuinness, Bernadette / Todd, Stephen / Holmes, Clive / Mann, David / Smith, A David / Beaumont, Helen / Warden, Donald / Wilcock, Gordon / Love, Seth / Kehoe, Patrick G / Hooper, Nigel M / Vardy, Emma R L C / Hardy, John / Mead, Simon / Fox, Nick C / Rossor, Martin / Collinge, John / Maier, Wolfgang / Jessen, Frank / Rüther, Eckart / Schürmann, Britta / Heun, Reiner / Kölsch, Heike / van den Bussche, Hendrik / Heuser, Isabella / Kornhuber, Johannes / Wiltfang, Jens / Dichgans, Martin / Frölich, Lutz / Hampel, Harald / Gallacher, John / Hüll, Michael / Rujescu, Dan / Giegling, Ina / Goate, Alison M / Kauwe, John S K / Cruchaga, Carlos / Nowotny, Petra / Morris, John C / Mayo, Kevin / Sleegers, Kristel / Bettens, Karolien / Engelborghs, Sebastiaan / De Deyn, Peter P / Van Broeckhoven, Christine / Livingston, Gill / Bass, Nicholas J / Gurling, Hugh / McQuillin, Andrew / Gwilliam, Rhian / Deloukas, Panagiotis / Al-Chalabi, Ammar / Shaw, Christopher E / Tsolaki, Magda / Singleton, Andrew B / Guerreiro, Rita / Mühleisen, Thomas W / Nöthen, Markus M / Moebus, Susanne / Jöckel, Karl-Heinz / Klopp, Norman / Wichmann, H-Erich / Pankratz, V Shane / Sando, Sigrid B / Aasly, Jan O / Barcikowska, Maria / Wszolek, Zbigniew K / Dickson, Dennis W / Graff-Radford, Neill R / Petersen, Ronald C / van Duijn, Cornelia M / Breteler, Monique M B / Ikram, M Arfan / DeStefano, Anita L / Fitzpatrick, Annette L / Lopez, Oscar / Launer, Lenore J / Seshadri, Sudha / Berr, Claudine / Campion, Dominique / Epelbaum, Jacques / Dartigues, Jean-François / Tzourio, Christophe / Alpérovitch, Annick / Lathrop, Mark / Feulner, Thomas M / Friedrich, Patricia / Riehle, Caterina / Krawczak, Michael / Schreiber, Stefan / Mayhaus, Manuel / Nicolhaus, S / Wagenpfeil, Stefan / Steinberg, Stacy / Stefansson, Hreinn / Stefansson, Kari / Snaedal, Jon / Björnsson, Sigurbjörn / Jonsson, Palmi V / Chouraki, Vincent / Genier-Boley, Benjamin / Hiltunen, Mikko / Soininen, Hilkka / Combarros, Onofre / Zelenika, Diana / Delepine, Marc / Bullido, Maria J / Pasquier, Florence / Mateo, Ignacio / Frank-Garcia, Ana / Porcellini, Elisa / Hanon, Olivier / Coto, Eliecer / Alvarez, Victoria / Bosco, Paolo / Siciliano, Gabriele / Mancuso, Michelangelo / Panza, Francesco / Solfrizzi, Vincenzo / Nacmias, Benedetta / Sorbi, Sandro / Bossù, Paola / Piccardi, Paola / Arosio, Beatrice / Annoni, Giorgio / Seripa, Davide / Pilotto, Alberto / Scarpini, Elio / Galimberti, Daniela / Brice, Alexis / Hannequin, Didier / Licastro, Federico / Jones, Lesley / Holmans, Peter A / Jonsson, Thorlakur / Riemenschneider, Matthias / Morgan, Kevin / Younkin, Steven G / Owen, Michael J / O'Donovan, Michael / Amouyel, Philippe / Williams, Julie

    Nature genetics

    2011  Volume 43, Issue 5, Page(s) 429–435

    Abstract: We sought to identify new susceptibility loci for Alzheimer's disease through a staged association study (GERAD+) and by testing suggestive loci reported by the Alzheimer's Disease Genetic Consortium (ADGC) in a companion paper. We undertook a combined ... ...

    Abstract We sought to identify new susceptibility loci for Alzheimer's disease through a staged association study (GERAD+) and by testing suggestive loci reported by the Alzheimer's Disease Genetic Consortium (ADGC) in a companion paper. We undertook a combined analysis of four genome-wide association datasets (stage 1) and identified ten newly associated variants with P ≤ 1 × 10(-5). We tested these variants for association in an independent sample (stage 2). Three SNPs at two loci replicated and showed evidence for association in a further sample (stage 3). Meta-analyses of all data provided compelling evidence that ABCA7 (rs3764650, meta P = 4.5 × 10(-17); including ADGC data, meta P = 5.0 × 10(-21)) and the MS4A gene cluster (rs610932, meta P = 1.8 × 10(-14); including ADGC data, meta P = 1.2 × 10(-16)) are new Alzheimer's disease susceptibility loci. We also found independent evidence for association for three loci reported by the ADGC, which, when combined, showed genome-wide significance: CD2AP (GERAD+, P = 8.0 × 10(-4); including ADGC data, meta P = 8.6 × 10(-9)), CD33 (GERAD+, P = 2.2 × 10(-4); including ADGC data, meta P = 1.6 × 10(-9)) and EPHA1 (GERAD+, P = 3.4 × 10(-4); including ADGC data, meta P = 6.0 × 10(-10)).
    MeSH term(s) ATP-Binding Cassette Transporters/genetics ; Adaptor Proteins, Signal Transducing/genetics ; Aged ; Aged, 80 and over ; Alzheimer Disease/genetics ; Antigens, CD/genetics ; Antigens, Differentiation, Myelomonocytic/genetics ; Case-Control Studies ; Cytoskeletal Proteins/genetics ; Databases, Genetic ; Female ; Genetic Predisposition to Disease ; Genetic Variation ; Genome-Wide Association Study ; Humans ; Male ; Membrane Proteins/genetics ; Multigene Family ; Polymorphism, Single Nucleotide ; Receptor, EphA1/genetics ; Sialic Acid Binding Ig-like Lectin 3
    Chemical Substances ABCA7 protein, human ; ATP-Binding Cassette Transporters ; Adaptor Proteins, Signal Transducing ; Antigens, CD ; Antigens, Differentiation, Myelomonocytic ; CD2-associated protein ; CD33 protein, human ; Cytoskeletal Proteins ; MS4A4E protein, human ; Membrane Proteins ; Sialic Acid Binding Ig-like Lectin 3 ; Receptor, EphA1 (EC 2.7.10.1)
    Language English
    Publishing date 2011-04-03
    Publishing country United States
    Document type Journal Article ; Meta-Analysis ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 1108734-1
    ISSN 1546-1718 ; 1061-4036
    ISSN (online) 1546-1718
    ISSN 1061-4036
    DOI 10.1038/ng.803
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.

    Sims, Rebecca / van der Lee, Sven J / Naj, Adam C / Bellenguez, Céline / Badarinarayan, Nandini / Jakobsdottir, Johanna / Kunkle, Brian W / Boland, Anne / Raybould, Rachel / Bis, Joshua C / Martin, Eden R / Grenier-Boley, Benjamin / Heilmann-Heimbach, Stefanie / Chouraki, Vincent / Kuzma, Amanda B / Sleegers, Kristel / Vronskaya, Maria / Ruiz, Agustin / Graham, Robert R /
    Olaso, Robert / Hoffmann, Per / Grove, Megan L / Vardarajan, Badri N / Hiltunen, Mikko / Nöthen, Markus M / White, Charles C / Hamilton-Nelson, Kara L / Epelbaum, Jacques / Maier, Wolfgang / Choi, Seung-Hoan / Beecham, Gary W / Dulary, Cécile / Herms, Stefan / Smith, Albert V / Funk, Cory C / Derbois, Céline / Forstner, Andreas J / Ahmad, Shahzad / Li, Hongdong / Bacq, Delphine / Harold, Denise / Satizabal, Claudia L / Valladares, Otto / Squassina, Alessio / Thomas, Rhodri / Brody, Jennifer A / Qu, Liming / Sánchez-Juan, Pascual / Morgan, Taniesha / Wolters, Frank J / Zhao, Yi / Garcia, Florentino Sanchez / Denning, Nicola / Fornage, Myriam / Malamon, John / Naranjo, Maria Candida Deniz / Majounie, Elisa / Mosley, Thomas H / Dombroski, Beth / Wallon, David / Lupton, Michelle K / Dupuis, Josée / Whitehead, Patrice / Fratiglioni, Laura / Medway, Christopher / Jian, Xueqiu / Mukherjee, Shubhabrata / Keller, Lina / Brown, Kristelle / Lin, Honghuang / Cantwell, Laura B / Panza, Francesco / McGuinness, Bernadette / Moreno-Grau, Sonia / Burgess, Jeremy D / Solfrizzi, Vincenzo / Proitsi, Petra / Adams, Hieab H / Allen, Mariet / Seripa, Davide / Pastor, Pau / Cupples, L Adrienne / Price, Nathan D / Hannequin, Didier / Frank-García, Ana / Levy, Daniel / Chakrabarty, Paramita / Caffarra, Paolo / Giegling, Ina / Beiser, Alexa S / Giedraitis, Vilmantas / Hampel, Harald / Garcia, Melissa E / Wang, Xue / Lannfelt, Lars / Mecocci, Patrizia / Eiriksdottir, Gudny / Crane, Paul K / Pasquier, Florence / Boccardi, Virginia / Henández, Isabel / Barber, Robert C / Scherer, Martin / Tarraga, Lluis / Adams, Perrie M / Leber, Markus / Chen, Yuning / Albert, Marilyn S / Riedel-Heller, Steffi / Emilsson, Valur / Beekly, Duane / Braae, Anne / Schmidt, Reinhold / Blacker, Deborah / Masullo, Carlo / Schmidt, Helena / Doody, Rachelle S / Spalletta, Gianfranco / Longstreth, W T / Fairchild, Thomas J / Bossù, Paola / Lopez, Oscar L / Frosch, Matthew P / Sacchinelli, Eleonora / Ghetti, Bernardino / Yang, Qiong / Huebinger, Ryan M / Jessen, Frank / Li, Shuo / Kamboh, M Ilyas / Morris, John / Sotolongo-Grau, Oscar / Katz, Mindy J / Corcoran, Chris / Dunstan, Melanie / Braddel, Amy / Thomas, Charlene / Meggy, Alun / Marshall, Rachel / Gerrish, Amy / Chapman, Jade / Aguilar, Miquel / Taylor, Sarah / Hill, Matt / Fairén, Mònica Díez / Hodges, Angela / Vellas, Bruno / Soininen, Hilkka / Kloszewska, Iwona / Daniilidou, Makrina / Uphill, James / Patel, Yogen / Hughes, Joseph T / Lord, Jenny / Turton, James / Hartmann, Annette M / Cecchetti, Roberta / Fenoglio, Chiara / Serpente, Maria / Arcaro, Marina / Caltagirone, Carlo / Orfei, Maria Donata / Ciaramella, Antonio / Pichler, Sabrina / Mayhaus, Manuel / Gu, Wei / Lleó, Alberto / Fortea, Juan / Blesa, Rafael / Barber, Imelda S / Brookes, Keeley / Cupidi, Chiara / Maletta, Raffaele Giovanni / Carrell, David / Sorbi, Sandro / Moebus, Susanne / Urbano, Maria / Pilotto, Alberto / Kornhuber, Johannes / Bosco, Paolo / Todd, Stephen / Craig, David / Johnston, Janet / Gill, Michael / Lawlor, Brian / Lynch, Aoibhinn / Fox, Nick C / Hardy, John / Albin, Roger L / Apostolova, Liana G / Arnold, Steven E / Asthana, Sanjay / Atwood, Craig S / Baldwin, Clinton T / Barnes, Lisa L / Barral, Sandra / Beach, Thomas G / Becker, James T / Bigio, Eileen H / Bird, Thomas D / Boeve, Bradley F / Bowen, James D / Boxer, Adam / Burke, James R / Burns, Jeffrey M / Buxbaum, Joseph D / Cairns, Nigel J / Cao, Chuanhai / Carlson, Chris S / Carlsson, Cynthia M / Carney, Regina M / Carrasquillo, Minerva M / Carroll, Steven L / Diaz, Carolina Ceballos / Chui, Helena C / Clark, David G / Cribbs, David H / Crocco, Elizabeth A / DeCarli, Charles / Dick, Malcolm / Duara, Ranjan / Evans, Denis A / Faber, Kelley M / Fallon, Kenneth B / Fardo, David W / Farlow, Martin R / Ferris, Steven / Foroud, Tatiana M / Galasko, Douglas R / Gearing, Marla / Geschwind, Daniel H / Gilbert, John R / Graff-Radford, Neill R / Green, Robert C / Growdon, John H / Hamilton, Ronald L / Harrell, Lindy E / Honig, Lawrence S / Huentelman, Matthew J / Hulette, Christine M / Hyman, Bradley T / Jarvik, Gail P / Abner, Erin / Jin, Lee-Way / Jun, Gyungah / Karydas, Anna / Kaye, Jeffrey A / Kim, Ronald / Kowall, Neil W / Kramer, Joel H / LaFerla, Frank M / Lah, James J / Leverenz, James B / Levey, Allan I / Li, Ge / Lieberman, Andrew P / Lunetta, Kathryn L / Lyketsos, Constantine G / Marson, Daniel C / Martiniuk, Frank / Mash, Deborah C / Masliah, Eliezer / McCormick, Wayne C / McCurry, Susan M / McDavid, Andrew N / McKee, Ann C / Mesulam, Marsel / Miller, Bruce L / Miller, Carol A / Miller, Joshua W / Morris, John C / Murrell, Jill R / Myers, Amanda J / O'Bryant, Sid / Olichney, John M / Pankratz, Vernon S / Parisi, Joseph E / Paulson, Henry L / Perry, William / Peskind, Elaine / Pierce, Aimee / Poon, Wayne W / Potter, Huntington / Quinn, Joseph F / Raj, Ashok / Raskind, Murray / Reisberg, Barry / Reitz, Christiane / Ringman, John M / Roberson, Erik D / 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    Nature genetics

    2017  Volume 49, Issue 9, Page(s) 1373–1384

    Abstract: We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested associated variants (P < 1 × ... ...

    Abstract We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested associated variants (P < 1 × 10
    MeSH term(s) Adaptor Proteins, Signal Transducing/genetics ; Alzheimer Disease/genetics ; Amino Acid Sequence ; Case-Control Studies ; Exome/genetics ; Gene Expression Profiling ; Gene Frequency ; Genetic Predisposition to Disease/genetics ; Genotype ; Humans ; Immunity, Innate/genetics ; Linkage Disequilibrium ; Membrane Glycoproteins/genetics ; Microglia/metabolism ; Odds Ratio ; Phospholipase C gamma/genetics ; Polymorphism, Single Nucleotide ; Protein Interaction Maps/genetics ; Receptors, Immunologic/genetics ; Sequence Homology, Amino Acid
    Chemical Substances ABI3 protein, human ; Adaptor Proteins, Signal Transducing ; Membrane Glycoproteins ; Receptors, Immunologic ; TREM2 protein, human ; Phospholipase C gamma (EC 3.1.4.3)
    Language English
    Publishing date 2017-07-17
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1108734-1
    ISSN 1546-1718 ; 1061-4036
    ISSN (online) 1546-1718
    ISSN 1061-4036
    DOI 10.1038/ng.3916
    Database MEDical Literature Analysis and Retrieval System OnLINE

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