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  1. Artikel ; Online: A genome-wide study shows a limited contribution of rare copy number variants to Alzheimer's disease risk.

    Chapman, Jade / Rees, Elliott / Harold, Denise / Ivanov, Dobril / Gerrish, Amy / Sims, Rebecca / Hollingworth, Paul / Stretton, Alexandra / Holmans, Peter / Owen, Michael J / O'Donovan, Michael C / Williams, Julie / Kirov, George

    Human molecular genetics

    2012  Band 22, Heft 4, Seite(n) 816–824

    Abstract: We assessed the role of rare copy number variants (CNVs) in Alzheimer's disease (AD) using intensity data from 3260 AD cases and 1290 age-matched controls from the genome-wide association study (GWAS) conducted by the Genetic and Environmental Risk for ... ...

    Abstract We assessed the role of rare copy number variants (CNVs) in Alzheimer's disease (AD) using intensity data from 3260 AD cases and 1290 age-matched controls from the genome-wide association study (GWAS) conducted by the Genetic and Environmental Risk for Alzheimer's disease Consortium (GERAD). We did not observe a significant excess of rare CNVs in cases, although we did identify duplications overlapping APP and CR1 which may be pathogenic. We looked for an excess of CNVs in loci which have been highlighted in previous AD CNV studies, but did not replicate previous findings. Through pathway analyses, we observed suggestive evidence for biological overlap between single nucleotide polymorphisms and CNVs in AD susceptibility. We also identified that our sample of elderly controls harbours significantly fewer deletions >1 Mb than younger control sets in previous CNV studies on schizophrenia and bipolar disorder (P = 8.9 × 10(-4) and 0.024, respectively), raising the possibility that healthy elderly individuals have a reduced rate of large deletions. Thus, in contrast to diseases such as schizophrenia, autism and attention deficit/hyperactivity disorder, CNVs do not appear to make a significant contribution to the development of AD.
    Mesh-Begriff(e) Aged ; Alzheimer Disease/genetics ; Amyloid beta-Protein Precursor/genetics ; Case-Control Studies ; DNA Copy Number Variations ; Gene Duplication ; Genetic Loci ; Genetic Predisposition to Disease ; Genome, Human ; Genome-Wide Association Study ; Genotype ; Humans ; Polymorphism, Single Nucleotide ; Receptors, Complement 3b/genetics ; Risk Factors
    Chemische Substanzen Amyloid beta-Protein Precursor ; CR1 protein, human ; Receptors, Complement 3b
    Sprache Englisch
    Erscheinungsdatum 2012-11-11
    Erscheinungsland England
    Dokumenttyp Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 1108742-0
    ISSN 1460-2083 ; 0964-6906
    ISSN (online) 1460-2083
    ISSN 0964-6906
    DOI 10.1093/hmg/dds476
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel ; 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  Band 156B, Heft 7, Seite(n) 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-Begriff(e) 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
    Sprache Englisch
    Erscheinungsdatum 2011-08-02
    Erscheinungsland United States
    Dokumenttyp 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
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel ; 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  Band 28, Heft 2, Seite(n) 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-Begriff(e) 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
    Chemische Substanzen Amyloid beta-Protein Precursor ; MAPT protein, human ; PSEN1 protein, human ; Presenilin-1 ; Presenilin-2 ; tau Proteins
    Sprache Englisch
    Erscheinungsdatum 2011-10-19
    Erscheinungsland Netherlands
    Dokumenttyp 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
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  4. Artikel ; 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  Band 5, Heft 11, Seite(n) 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-Begriff(e) 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
    Chemische Substanzen Apolipoproteins E ; Cholesterol (97C5T2UQ7J)
    Sprache Englisch
    Erscheinungsdatum 2010-11-15
    Erscheinungsland United States
    Dokumenttyp 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
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  5. Artikel ; 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  Band 41, Heft 10, Seite(n) 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-Begriff(e) 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
    Chemische Substanzen CLU protein, human ; Clusterin ; Monomeric Clathrin Assembly Proteins ; PICALM protein, human
    Sprache Englisch
    Erscheinungsdatum 2009-09-06
    Erscheinungsland United States
    Dokumenttyp 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
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  6. Artikel ; 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  Band 43, Heft 5, Seite(n) 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-Begriff(e) 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
    Chemische Substanzen 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)
    Sprache Englisch
    Erscheinungsdatum 2011-04-03
    Erscheinungsland United States
    Dokumenttyp 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
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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