Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk.
Identifieur interne : 000737 ( PubMed/Checkpoint ); précédent : 000736; suivant : 000738Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk.
Auteurs : Valentina Moskvina ; Denise Harold ; Giancarlo Russo ; Alexey Vedernikov ; Manu Sharma ; Mohamed Saad ; Peter Holmans ; Jose M. Bras ; Francesco Bettella ; Margaux F. Keller ; Nayia Nicolaou ; Javier Sim N-Sánchez ; J Raphael Gibbs ; Claudia Schulte ; Alexandra Durr ; Rita Guerreiro ; Dena Hernandez ; Alexis Brice ; Hreinn Stefánsson ; Kari Majamaa ; Thomas Gasser ; Peter Heutink ; Nick Wood ; Maria Martinez ; Andrew B. Singleton ; Michael A. Nalls ; John Hardy ; Michael J. Owen ; Michael C. O'Donovan ; Julie Williams ; Huw R. Morris ; Nigel M. WilliamsSource :
- JAMA neurology [ 2168-6157 ] ; 2013.
Descripteurs français
- Wicri :
- geographic : États-Unis.
English descriptors
- KwdEn :
- Adult, Aged, Aged, 80 and over, Alzheimer Disease (genetics), Databases, Factual (statistics & numerical data), Europe, Female, Gene Frequency, Genetic Predisposition to Disease (genetics), Genome-Wide Association Study, Genotype, Humans, In Vitro Techniques, Male, Middle Aged, Parkinson Disease (genetics), Polymorphism, Single Nucleotide (genetics), Risk Factors, United States.
- MESH :
- geographic : Europe, United States.
- genetics : Alzheimer Disease, Genetic Predisposition to Disease, Parkinson Disease, Polymorphism, Single Nucleotide.
- statistics & numerical data : Databases, Factual.
- Adult, Aged, Aged, 80 and over, Female, Gene Frequency, Genome-Wide Association Study, Genotype, Humans, In Vitro Techniques, Male, Middle Aged, Risk Factors.
Abstract
Despite Alzheimer disease (AD) and Parkinson disease (PD) being clinically distinct entities, there is a possibility of a pathological overlap, with some genome-wide association (GWA) studies suggesting that the 2 diseases represent a biological continuum. The application of GWA studies to idiopathic forms of AD and PD have identified a number of loci that contain genetic variants that increase the risk of these disorders.
DOI: 10.1001/jamaneurol.2013.448
PubMed: 23921447
Affiliations:
Links toward previous steps (curation, corpus...)
Links to Exploration step
pubmed:23921447Le document en format XML
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Williams</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2013">2013</date><idno type="RBID">pubmed:23921447</idno><idno type="pmid">23921447</idno><idno type="doi">10.1001/jamaneurol.2013.448</idno><idno type="wicri:Area/PubMed/Corpus">000683</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000683</idno><idno type="wicri:Area/PubMed/Curation">000655</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000655</idno><idno type="wicri:Area/PubMed/Checkpoint">000655</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000655</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk.</title><author><name sortKey="Moskvina, Valentina" sort="Moskvina, Valentina" uniqKey="Moskvina V" first="Valentina" last="Moskvina">Valentina Moskvina</name></author><author><name sortKey="Harold, Denise" sort="Harold, Denise" uniqKey="Harold D" first="Denise" last="Harold">Denise Harold</name></author><author><name sortKey="Russo, Giancarlo" sort="Russo, Giancarlo" uniqKey="Russo G" first="Giancarlo" last="Russo">Giancarlo Russo</name></author><author><name sortKey="Vedernikov, Alexey" sort="Vedernikov, Alexey" uniqKey="Vedernikov A" first="Alexey" last="Vedernikov">Alexey Vedernikov</name></author><author><name sortKey="Sharma, Manu" sort="Sharma, Manu" uniqKey="Sharma M" first="Manu" last="Sharma">Manu Sharma</name></author><author><name sortKey="Saad, Mohamed" sort="Saad, Mohamed" uniqKey="Saad M" first="Mohamed" last="Saad">Mohamed Saad</name></author><author><name sortKey="Holmans, Peter" sort="Holmans, Peter" uniqKey="Holmans P" first="Peter" last="Holmans">Peter Holmans</name></author><author><name sortKey="Bras, Jose M" sort="Bras, Jose M" uniqKey="Bras J" first="Jose M" last="Bras">Jose M. Bras</name></author><author><name sortKey="Bettella, Francesco" sort="Bettella, Francesco" uniqKey="Bettella F" first="Francesco" last="Bettella">Francesco Bettella</name></author><author><name sortKey="Keller, Margaux F" sort="Keller, Margaux F" uniqKey="Keller M" first="Margaux F" last="Keller">Margaux F. Keller</name></author><author><name sortKey="Nicolaou, Nayia" sort="Nicolaou, Nayia" uniqKey="Nicolaou N" first="Nayia" last="Nicolaou">Nayia Nicolaou</name></author><author><name sortKey="Sim N Sanchez, Javier" sort="Sim N Sanchez, Javier" uniqKey="Sim N Sanchez J" first="Javier" last="Sim N-Sánchez">Javier Sim N-Sánchez</name></author><author><name sortKey="Gibbs, J Raphael" sort="Gibbs, J Raphael" uniqKey="Gibbs J" first="J Raphael" last="Gibbs">J Raphael Gibbs</name></author><author><name sortKey="Schulte, Claudia" sort="Schulte, Claudia" uniqKey="Schulte C" first="Claudia" last="Schulte">Claudia Schulte</name></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name></author><author><name sortKey="Guerreiro, Rita" sort="Guerreiro, Rita" uniqKey="Guerreiro R" first="Rita" last="Guerreiro">Rita Guerreiro</name></author><author><name sortKey="Hernandez, Dena" sort="Hernandez, Dena" uniqKey="Hernandez D" first="Dena" last="Hernandez">Dena Hernandez</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author><author><name sortKey="Stefansson, Hreinn" sort="Stefansson, Hreinn" uniqKey="Stefansson H" first="Hreinn" last="Stefánsson">Hreinn Stefánsson</name></author><author><name sortKey="Majamaa, Kari" sort="Majamaa, Kari" uniqKey="Majamaa K" first="Kari" last="Majamaa">Kari Majamaa</name></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name></author><author><name sortKey="Heutink, Peter" sort="Heutink, Peter" uniqKey="Heutink P" first="Peter" last="Heutink">Peter Heutink</name></author><author><name sortKey="Wood, Nick" sort="Wood, Nick" uniqKey="Wood N" first="Nick" last="Wood">Nick Wood</name></author><author><name sortKey="Martinez, Maria" sort="Martinez, Maria" uniqKey="Martinez M" first="Maria" last="Martinez">Maria Martinez</name></author><author><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B" last="Singleton">Andrew B. Singleton</name></author><author><name sortKey="Nalls, Michael A" sort="Nalls, Michael A" uniqKey="Nalls M" first="Michael A" last="Nalls">Michael A. Nalls</name></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></author><author><name sortKey="Owen, Michael J" sort="Owen, Michael J" uniqKey="Owen M" first="Michael J" last="Owen">Michael J. Owen</name></author><author><name sortKey="O Donovan, Michael C" sort="O Donovan, Michael C" uniqKey="O Donovan M" first="Michael C" last="O'Donovan">Michael C. O'Donovan</name></author><author><name sortKey="Williams, Julie" sort="Williams, Julie" uniqKey="Williams J" first="Julie" last="Williams">Julie Williams</name></author><author><name sortKey="Morris, Huw R" sort="Morris, Huw R" uniqKey="Morris H" first="Huw R" last="Morris">Huw R. Morris</name></author><author><name sortKey="Williams, Nigel M" sort="Williams, Nigel M" uniqKey="Williams N" first="Nigel M" last="Williams">Nigel M. Williams</name></author></analytic><series><title level="j">JAMA neurology</title><idno type="eISSN">2168-6157</idno><imprint><date when="2013" type="published">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Alzheimer Disease (genetics)</term><term>Databases, Factual (statistics & numerical data)</term><term>Europe</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease (genetics)</term><term>Genome-Wide Association Study</term><term>Genotype</term><term>Humans</term><term>In Vitro Techniques</term><term>Male</term><term>Middle Aged</term><term>Parkinson Disease (genetics)</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Risk Factors</term><term>United States</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Europe</term><term>United States</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Alzheimer Disease</term><term>Genetic Predisposition to Disease</term><term>Parkinson Disease</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" qualifier="statistics & numerical data" xml:lang="en"><term>Databases, Factual</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Female</term><term>Gene Frequency</term><term>Genome-Wide Association Study</term><term>Genotype</term><term>Humans</term><term>In Vitro Techniques</term><term>Male</term><term>Middle Aged</term><term>Risk Factors</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>États-Unis</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Despite Alzheimer disease (AD) and Parkinson disease (PD) being clinically distinct entities, there is a possibility of a pathological overlap, with some genome-wide association (GWA) studies suggesting that the 2 diseases represent a biological continuum. The application of GWA studies to idiopathic forms of AD and PD have identified a number of loci that contain genetic variants that increase the risk of these disorders.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">23921447</PMID><DateCreated><Year>2014</Year><Month>02</Month><Day>03</Day></DateCreated><DateCompleted><Year>2014</Year><Month>02</Month><Day>14</Day></DateCompleted><DateRevised><Year>2016</Year><Month>12</Month><Day>03</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">2168-6157</ISSN><JournalIssue CitedMedium="Internet"><Volume>70</Volume><Issue>10</Issue><PubDate><Year>2013</Year><Month>Oct</Month></PubDate></JournalIssue><Title>JAMA neurology</Title><ISOAbbreviation>JAMA Neurol</ISOAbbreviation></Journal><ArticleTitle>Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk.</ArticleTitle><Pagination><MedlinePgn>1268-76</MedlinePgn></Pagination><Abstract><AbstractText Label="IMPORTANCE" NlmCategory="OBJECTIVE">Despite Alzheimer disease (AD) and Parkinson disease (PD) being clinically distinct entities, there is a possibility of a pathological overlap, with some genome-wide association (GWA) studies suggesting that the 2 diseases represent a biological continuum. The application of GWA studies to idiopathic forms of AD and PD have identified a number of loci that contain genetic variants that increase the risk of these disorders.</AbstractText><AbstractText Label="OBJECTIVE" NlmCategory="OBJECTIVE">To assess the genetic overlap between PD and AD by testing for the presence of potentially pleiotropic loci in 2 recent GWA studies of PD and AD.</AbstractText><AbstractText Label="DESIGN" NlmCategory="METHODS">Combined GWA analysis.</AbstractText><AbstractText Label="SETTING" NlmCategory="METHODS">Data sets from the United Kingdom, Germany, France, and the United States.</AbstractText><AbstractText Label="PARTICIPANTS" NlmCategory="METHODS">Thousands of patients with AD or PD and their controls.</AbstractText><AbstractText Label="MAIN OUTCOMES AND MEASURES" NlmCategory="METHODS">Meta-analysis of GWA studies of AD and PD.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">To identify evidence for potentially pleiotropic alleles that increased the risk for both PD and AD, we performed a combined PD-AD meta-analysis and compared the results with those obtained in the primary GWA studies.We also tested for a net effect of potentially polygenic alleles that were shared by both disorders by performing a polygenic score analysis. Finally, we also performed a gene-based association analysis that was aimed at detecting genes that harbor multiple disease-causing single-nucleotide polymorphisms, some of which confer a risk of PD and some a risk of AD.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Detailed interrogation of the single-nucleotide polymorphism, polygenic, and gene-based analyses resulted in no significant evidence that supported the presence of loci that increase the risk of both PD and AD.</AbstractText><AbstractText Label="CONCLUSIONS AND RELEVANCE" NlmCategory="CONCLUSIONS">Our findings therefore imply that loci that increase the risk of both PD and AD are not widespread and that the pathological overlap could instead be “downstream” of the primary susceptibility genes that increase the risk of each disease.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Moskvina</LastName><ForeName>Valentina</ForeName><Initials>V</Initials></Author><Author ValidYN="Y"><LastName>Harold</LastName><ForeName>Denise</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Russo</LastName><ForeName>GianCarlo</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Vedernikov</LastName><ForeName>Alexey</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Sharma</LastName><ForeName>Manu</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Saad</LastName><ForeName>Mohamed</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Holmans</LastName><ForeName>Peter</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Bras</LastName><ForeName>Jose M</ForeName><Initials>JM</Initials></Author><Author ValidYN="Y"><LastName>Bettella</LastName><ForeName>Francesco</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Keller</LastName><ForeName>Margaux F</ForeName><Initials>MF</Initials></Author><Author ValidYN="Y"><LastName>Nicolaou</LastName><ForeName>Nayia</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Simón-Sánchez</LastName><ForeName>Javier</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Gibbs</LastName><ForeName>J Raphael</ForeName><Initials>JR</Initials></Author><Author ValidYN="Y"><LastName>Schulte</LastName><ForeName>Claudia</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Durr</LastName><ForeName>Alexandra</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Guerreiro</LastName><ForeName>Rita</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Hernandez</LastName><ForeName>Dena</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Brice</LastName><ForeName>Alexis</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Stefánsson</LastName><ForeName>Hreinn</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Majamaa</LastName><ForeName>Kari</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Gasser</LastName><ForeName>Thomas</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Heutink</LastName><ForeName>Peter</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Wood</LastName><ForeName>Nick</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Martinez</LastName><ForeName>Maria</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Singleton</LastName><ForeName>Andrew B</ForeName><Initials>AB</Initials></Author><Author ValidYN="Y"><LastName>Nalls</LastName><ForeName>Michael A</ForeName><Initials>MA</Initials></Author><Author ValidYN="Y"><LastName>Hardy</LastName><ForeName>John</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Owen</LastName><ForeName>Michael J</ForeName><Initials>MJ</Initials></Author><Author ValidYN="Y"><LastName>O'Donovan</LastName><ForeName>Michael C</ForeName><Initials>MC</Initials></Author><Author ValidYN="Y"><LastName>Williams</LastName><ForeName>Julie</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Morris</LastName><ForeName>Huw R</ForeName><Initials>HR</Initials></Author><Author ValidYN="Y"><LastName>Williams</LastName><ForeName>Nigel M</ForeName><Initials>NM</Initials></Author><Author ValidYN="Y"><CollectiveName>IPDGC and GERAD Investigators</CollectiveName></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>MR/K013041/1</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>G-0907</GrantID><Agency>Parkinson's UK</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>G0701075</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>G1100643</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><Agency>Department of Health</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>G0700943</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>G0902227</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><Agency>Intramural NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>Z01 AG000950-10</GrantID><Acronym>AG</Acronym><Agency>NIA NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>G1100479</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>Z01 AG000949-06</GrantID><Acronym>AG</Acronym><Agency>NIA NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D017418">Meta-Analysis</PublicationType><PublicationType UI="D052060">Research Support, N.I.H., Intramural</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>JAMA Neurol</MedlineTA><NlmUniqueID>101589536</NlmUniqueID><ISSNLinking>2168-6149</ISSNLinking></MedlineJournalInfo><CitationSubset>AIM</CitationSubset><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000368" MajorTopicYN="N">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000369" MajorTopicYN="N">Aged, 80 and over</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000544" MajorTopicYN="N">Alzheimer Disease</DescriptorName><QualifierName UI="Q000235" 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Singleton</name><name sortKey="Stefansson, Hreinn" sort="Stefansson, Hreinn" uniqKey="Stefansson H" first="Hreinn" last="Stefánsson">Hreinn Stefánsson</name><name sortKey="Vedernikov, Alexey" sort="Vedernikov, Alexey" uniqKey="Vedernikov A" first="Alexey" last="Vedernikov">Alexey Vedernikov</name><name sortKey="Williams, Julie" sort="Williams, Julie" uniqKey="Williams J" first="Julie" last="Williams">Julie Williams</name><name sortKey="Williams, Nigel M" sort="Williams, Nigel M" uniqKey="Williams N" first="Nigel M" last="Williams">Nigel M. Williams</name><name sortKey="Wood, Nick" sort="Wood, Nick" uniqKey="Wood N" first="Nick" last="Wood">Nick Wood</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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