AustralieFrV1, Main, Exploration, bibRecord, 008251

Is the ornithine transcarbamylase gene a genetic determinant of Alzheimer's disease?

Identifieur interne : 008251 ( Main/Exploration ); précédent : 008250; suivant : 008252

Is the ornithine transcarbamylase gene a genetic determinant of Alzheimer's disease?

Auteurs : Franck Hansmannel [France] ; Corinne Lendon [Australie] ; Florence Pasquier [France] ; Julie Dumont [France] ; Didier Hannequin [France] ; Julien Chapuis [France] ; Geoffroy Laumet [France] ; Anne-Marie Ayral [France] ; Daniela Galimberti [Italie] ; Elio Scarpini [Italie] ; Dominique Campion [France] ; Philippe Amouyel [France] ; Jean-Charles Lambert [France]

Source :

Neuroscience letters [ 0304-3940 ] ; 2009.

RBID : Pascal:09-0082051

Descripteurs français

Pascal (Inist)
- Ornithine carbamoyltransferase, Polymorphisme, Urée, Démence d'Alzheimer.

English descriptors

KwdEn :
- Alzheimer disease, Ornithine carbamoyltransferase, Polymorphism, Urea.

Abstract

Expression of ornithine transcarbamylase (OTC) is strongly induced in the brain of individuals suffering from Alzheimer's Disease (AD). Association studies in a population from northern France have revealed that two SNPs -389 G/A (rs5963409) and -241 A/G (rs5963411) located in the promoter of the OTC gene are associated with the risk of developing AD. In the present work, these association studies were extended to a population of 2113 AD cases and 1580 controls from northern France, western France, the United Kingdom and Italy. The rs5963409 minor allele was weakly but significantly associated with an increased risk of developing AD (OR = 1.19, p = 0.004). This association was independent of age and ApoE status. Our results support that the OTC gene may be a minor genetic determinant of AD.

Affiliations:

Australie, France, Italie
Hauts-de-France, Lombardie, Nord-Pas-de-Calais
Lille, Milan

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: 003027
to stream PascalFrancis, to step Curation: 002F90
to stream PascalFrancis, to step Checkpoint: 002A37
to stream Main, to step Merge: 008A06
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Le document en format XML

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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Alzheimer disease</term>
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<term>Polymorphisme</term>
<term>Urée</term>
<term>Démence d'Alzheimer</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Expression of ornithine transcarbamylase (OTC) is strongly induced in the brain of individuals suffering from Alzheimer's Disease (AD). Association studies in a population from northern France have revealed that two SNPs -389 G/A (rs5963409) and -241 A/G (rs5963411) located in the promoter of the OTC gene are associated with the risk of developing AD. In the present work, these association studies were extended to a population of 2113 AD cases and 1580 controls from northern France, western France, the United Kingdom and Italy. The rs5963409 minor allele was weakly but significantly associated with an increased risk of developing AD (OR = 1.19, p = 0.004). This association was independent of age and ApoE status. Our results support that the OTC gene may be a minor genetic determinant of AD.</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>France</li>
<li>Italie</li>
</country>
<region><li>Hauts-de-France</li>
<li>Lombardie</li>
<li>Nord-Pas-de-Calais</li>
</region>
<settlement><li>Lille</li>
<li>Milan</li>
</settlement>
</list>
<tree><country name="France"><region name="Hauts-de-France"><name sortKey="Hansmannel, Franck" sort="Hansmannel, Franck" uniqKey="Hansmannel F" first="Franck" last="Hansmannel">Franck Hansmannel</name>
</region>
<name sortKey="Amouyel, Philippe" sort="Amouyel, Philippe" uniqKey="Amouyel P" first="Philippe" last="Amouyel">Philippe Amouyel</name>
<name sortKey="Ayral, Anne Marie" sort="Ayral, Anne Marie" uniqKey="Ayral A" first="Anne-Marie" last="Ayral">Anne-Marie Ayral</name>
<name sortKey="Campion, Dominique" sort="Campion, Dominique" uniqKey="Campion D" first="Dominique" last="Campion">Dominique Campion</name>
<name sortKey="Chapuis, Julien" sort="Chapuis, Julien" uniqKey="Chapuis J" first="Julien" last="Chapuis">Julien Chapuis</name>
<name sortKey="Dumont, Julie" sort="Dumont, Julie" uniqKey="Dumont J" first="Julie" last="Dumont">Julie Dumont</name>
<name sortKey="Hannequin, Didier" sort="Hannequin, Didier" uniqKey="Hannequin D" first="Didier" last="Hannequin">Didier Hannequin</name>
<name sortKey="Lambert, Jean Charles" sort="Lambert, Jean Charles" uniqKey="Lambert J" first="Jean-Charles" last="Lambert">Jean-Charles Lambert</name>
<name sortKey="Laumet, Geoffroy" sort="Laumet, Geoffroy" uniqKey="Laumet G" first="Geoffroy" last="Laumet">Geoffroy Laumet</name>
<name sortKey="Pasquier, Florence" sort="Pasquier, Florence" uniqKey="Pasquier F" first="Florence" last="Pasquier">Florence Pasquier</name>
</country>
<country name="Australie"><noRegion><name sortKey="Lendon, Corinne" sort="Lendon, Corinne" uniqKey="Lendon C" first="Corinne" last="Lendon">Corinne Lendon</name>
</noRegion>
</country>
<country name="Italie"><region name="Lombardie"><name sortKey="Galimberti, Daniela" sort="Galimberti, Daniela" uniqKey="Galimberti D" first="Daniela" last="Galimberti">Daniela Galimberti</name>
</region>
<name sortKey="Scarpini, Elio" sort="Scarpini, Elio" uniqKey="Scarpini E" first="Elio" last="Scarpini">Elio Scarpini</name>
</country>
</tree>
</affiliations>
</record>

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Is the ornithine transcarbamylase gene a genetic determinant of Alzheimer's disease?

Is the ornithine transcarbamylase gene a genetic determinant of Alzheimer's disease?

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