Investigation of an amyloid precursor protein protective mutation (A673T) in a North American case-control sample of late-onset Alzheimer's disease.
Identifieur interne : 002582 ( PubMed/Checkpoint ); précédent : 002581; suivant : 002583Investigation of an amyloid precursor protein protective mutation (A673T) in a North American case-control sample of late-onset Alzheimer's disease.
Auteurs : Mikhil N. Bamne [États-Unis] ; F Yesim Demirci [États-Unis] ; Sarah Berman [États-Unis] ; Beth E. Snitz [États-Unis] ; Samantha L. Rosenthal [États-Unis] ; Xingbin Wang [États-Unis] ; Oscar L. Lopez [États-Unis] ; M Ilyas Kamboh [États-Unis]Source :
- Neurobiology of aging [ 1558-1497 ] ; 2014.
Descripteurs français
- KwdFr :
- Adulte d'âge moyen, Amérique du Nord, Femelle, Génotype, Humains, Maladie d'Alzheimer (génétique), Mutation (génétique), Mâle, Population d'origine européenne (génétique), Précurseur de la protéine bêta-amyloïde (génétique), Risque, Sujet âgé, Sujet âgé de 80 ans ou plus, Troubles de la cognition (génétique), Études cas-témoins, Études d'associations génétiques, Études de cohortes.
- MESH :
- génétique : Maladie d'Alzheimer, Mutation, Population d'origine européenne, Précurseur de la protéine bêta-amyloïde, Troubles de la cognition.
- Adulte d'âge moyen, Amérique du Nord, Femelle, Génotype, Humains, Mâle, Risque, Sujet âgé, Sujet âgé de 80 ans ou plus, Études cas-témoins, Études d'associations génétiques, Études de cohortes.
English descriptors
- KwdEn :
- Aged, Aged, 80 and over, Alzheimer Disease (genetics), Amyloid beta-Protein Precursor (genetics), Case-Control Studies, Cognition Disorders (genetics), Cohort Studies, European Continental Ancestry Group (genetics), Female, Genetic Association Studies, Genotype, Humans, Male, Middle Aged, Mutation (genetics), North America, Risk.
- MESH :
- chemical , genetics : Amyloid beta-Protein Precursor.
- geographic : North America.
- genetics : Alzheimer Disease, Cognition Disorders, European Continental Ancestry Group, Mutation.
- Aged, Aged, 80 and over, Case-Control Studies, Cohort Studies, Female, Genetic Association Studies, Genotype, Humans, Male, Middle Aged, Risk.
Abstract
A rare amyloid precursor protein gene variant, A673T (rs63750847) was recently reported to protect against Alzheimer's disease and age-related cognitive decline among Icelanders and the same rare variant was observed also in Finnish, Norwegian, and Swedish populations. We investigated this variant in 1674 late-onset Alzheimer's disease cases and 2644 elderly control subjects, all North American Whites (US Whites). We did not observe any example of the A673T variant in our large sample. Our findings suggest that this rare variant could be specific to the individuals of the origin from the Nordic countries.
DOI: 10.1016/j.neurobiolaging.2014.01.020
PubMed: 24529499
Affiliations:
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pubmed:24529499Le document en format XML
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<front><div type="abstract" xml:lang="en">A rare amyloid precursor protein gene variant, A673T (rs63750847) was recently reported to protect against Alzheimer's disease and age-related cognitive decline among Icelanders and the same rare variant was observed also in Finnish, Norwegian, and Swedish populations. We investigated this variant in 1674 late-onset Alzheimer's disease cases and 2644 elderly control subjects, all North American Whites (US Whites). We did not observe any example of the A673T variant in our large sample. Our findings suggest that this rare variant could be specific to the individuals of the origin from the Nordic countries.</div>
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<Abstract><AbstractText>A rare amyloid precursor protein gene variant, A673T (rs63750847) was recently reported to protect against Alzheimer's disease and age-related cognitive decline among Icelanders and the same rare variant was observed also in Finnish, Norwegian, and Swedish populations. We investigated this variant in 1674 late-onset Alzheimer's disease cases and 2644 elderly control subjects, all North American Whites (US Whites). We did not observe any example of the A673T variant in our large sample. Our findings suggest that this rare variant could be specific to the individuals of the origin from the Nordic countries.</AbstractText>
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<MedlineTA>Neurobiol Aging</MedlineTA>
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<ISSNLinking>0197-4580</ISSNLinking>
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<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D016564">Amyloid beta-Protein Precursor</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Neurology. 2000 Dec 26;55(12):1854-62</RefSource>
<PMID Version="1">11134385</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>JAMA. 2008 Nov 19;300(19):2253-62</RefSource>
<PMID Version="1">19017911</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Transl Psychiatry. 2012;2:e117</RefSource>
<PMID Version="1">22832961</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Neurobiol Aging. 2014 Apr;35(4):935.e11-2</RefSource>
<PMID Version="1">24126161</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Neurobiol Aging. 2013 May;34(5):1518.e1-3</RefSource>
<PMID Version="1">23102935</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Neurobiol Aging. 2013 Oct;34(10):2441.e7-8</RefSource>
<PMID Version="1">23652020</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nature. 2012 Aug 2;488(7409):96-9</RefSource>
<PMID Version="1">22801501</PMID>
</CommentsCorrections>
</CommentsCorrectionsList>
<MeshHeadingList><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" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D016564" MajorTopicYN="N">Amyloid beta-Protein Precursor</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D016022" MajorTopicYN="N">Case-Control Studies</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D003072" MajorTopicYN="N">Cognition Disorders</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D015331" MajorTopicYN="N">Cohort Studies</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D044465" MajorTopicYN="N">European Continental Ancestry Group</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D056726" MajorTopicYN="Y">Genetic Association Studies</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D005838" MajorTopicYN="N">Genotype</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D009656" MajorTopicYN="N" Type="Geographic">North America</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D012306" MajorTopicYN="N">Risk</DescriptorName>
</MeshHeading>
</MeshHeadingList>
<OtherID Source="NLM">NIHMS575350</OtherID>
<OtherID Source="NLM">PMC4009010</OtherID>
<KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">A673T</Keyword>
<Keyword MajorTopicYN="N">APP</Keyword>
<Keyword MajorTopicYN="N">Alzheimer's disease</Keyword>
<Keyword MajorTopicYN="N">Amyloid precursor protein</Keyword>
<Keyword MajorTopicYN="N">Cognitive decline</Keyword>
<Keyword MajorTopicYN="N">Cognitive impairment</Keyword>
<Keyword MajorTopicYN="N">rs63750847</Keyword>
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<PubmedData><History><PubMedPubDate PubStatus="received"><Year>2014</Year>
<Month>01</Month>
<Day>10</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="accepted"><Year>2014</Year>
<Month>01</Month>
<Day>19</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2014</Year>
<Month>2</Month>
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<PubMedPubDate PubStatus="medline"><Year>2014</Year>
<Month>11</Month>
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<ArticleIdList><ArticleId IdType="pubmed">24529499</ArticleId>
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<ArticleId IdType="doi">10.1016/j.neurobiolaging.2014.01.020</ArticleId>
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<affiliations><list><country><li>États-Unis</li>
</country>
<region><li>Pennsylvanie</li>
</region>
<settlement><li>Pittsburgh</li>
</settlement>
<orgName><li>Université de Pittsburgh</li>
</orgName>
</list>
<tree><country name="États-Unis"><region name="Pennsylvanie"><name sortKey="Bamne, Mikhil N" sort="Bamne, Mikhil N" uniqKey="Bamne M" first="Mikhil N" last="Bamne">Mikhil N. Bamne</name>
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<name sortKey="Berman, Sarah" sort="Berman, Sarah" uniqKey="Berman S" first="Sarah" last="Berman">Sarah Berman</name>
<name sortKey="Demirci, F Yesim" sort="Demirci, F Yesim" uniqKey="Demirci F" first="F Yesim" last="Demirci">F Yesim Demirci</name>
<name sortKey="Kamboh, M Ilyas" sort="Kamboh, M Ilyas" uniqKey="Kamboh M" first="M Ilyas" last="Kamboh">M Ilyas Kamboh</name>
<name sortKey="Lopez, Oscar L" sort="Lopez, Oscar L" uniqKey="Lopez O" first="Oscar L" last="Lopez">Oscar L. Lopez</name>
<name sortKey="Rosenthal, Samantha L" sort="Rosenthal, Samantha L" uniqKey="Rosenthal S" first="Samantha L" last="Rosenthal">Samantha L. Rosenthal</name>
<name sortKey="Snitz, Beth E" sort="Snitz, Beth E" uniqKey="Snitz B" first="Beth E" last="Snitz">Beth E. Snitz</name>
<name sortKey="Wang, Xingbin" sort="Wang, Xingbin" uniqKey="Wang X" first="Xingbin" last="Wang">Xingbin Wang</name>
</country>
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