Deep Sequencing of the Nicastrin Gene in Pooled DNA, the Identification of Genetic Variants That Affect Risk of Alzheimer's Disease
Identifieur interne : 001596 ( Main/Exploration ); précédent : 001595; suivant : 001597Deep Sequencing of the Nicastrin Gene in Pooled DNA, the Identification of Genetic Variants That Affect Risk of Alzheimer's Disease
Auteurs : Michelle K. Lupton [Royaume-Uni] ; Petroula Proitsi [Royaume-Uni] ; Makrina Danillidou [Grèce] ; Magda Tsolaki [Grèce] ; Gillian Hamilton [Royaume-Uni] ; Richard Wroe [Royaume-Uni] ; Megan Pritchard [Royaume-Uni] ; Kathryn Lord [Royaume-Uni] ; Belinda M. Martin [Royaume-Uni] ; Iwona Kloszewska [Pologne] ; Hilkka Soininen [Finlande] ; Patrizia Mecocci [Italie] ; Bruno Vellas [France] ; Denise Harold [Royaume-Uni] ; Paul Hollingworth [Royaume-Uni] ; Simon Lovestone [Royaume-Uni] ; John F. Powell [Royaume-Uni]Source :
- PLoS ONE [ 1932-6203 ] ; 2011.
Abstract
Nicastrin is an obligatory component of the γ-secretase; the enzyme complex that leads to the production of Aβ fragments critically central to the pathogenesis of Alzheimer's disease (AD). Analyses of the effects of common variation in this gene on risk for late onset AD have been inconclusive. We investigated the effect of rare variation in the coding regions of the Nicastrin gene in a cohort of AD patients and matched controls using an innovative pooling approach and next generation sequencing. Five SNPs were identified and validated by individual genotyping from 311 cases and 360 controls. Association analysis identified a non-synonymous rare SNP (N417Y) with a statistically higher frequency in cases compared to controls in the Greek population (OR 3.994, CI 1.105–14.439, p = 0.035). This finding warrants further investigation in a larger cohort and adds weight to the hypothesis that rare variation explains some of genetic heritability still to be identified in Alzheimer's disease.
Url:
DOI: 10.1371/journal.pone.0017298
PubMed: 21364883
PubMed Central: 3045431
Affiliations:
- Finlande, France, Grèce, Italie, Pologne, Royaume-Uni
- Angleterre, Grand Londres, Midi-Pyrénées, Occitanie (région administrative), Écosse
- Londres, Toulouse, Édimbourg
- Université d'Édimbourg
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Le document en format XML
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Institute of Psychiatry, King's College London, London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Centre for Neurodegeneration Research, Institute of Psychiatry, King's College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Lord, Kathryn" sort="Lord, Kathryn" uniqKey="Lord K" first="Kathryn" last="Lord">Kathryn Lord</name><affiliation wicri:level="3"><nlm:aff id="aff1"><addr-line>MRC Centre for Neurodegeneration Research, Institute of Psychiatry, King's College London, London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Centre for Neurodegeneration Research, Institute of Psychiatry, King's College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Martin, Belinda M" sort="Martin, Belinda M" uniqKey="Martin B" first="Belinda M." last="Martin">Belinda M. Martin</name><affiliation wicri:level="3"><nlm:aff id="aff1"><addr-line>MRC Centre for Neurodegeneration Research, Institute of Psychiatry, King's College London, London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Centre for Neurodegeneration Research, Institute of Psychiatry, King's College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Kloszewska, Iwona" sort="Kloszewska, Iwona" uniqKey="Kloszewska I" first="Iwona" last="Kloszewska">Iwona Kloszewska</name><affiliation wicri:level="1"><nlm:aff id="aff4"><addr-line>Department of Old Age Psychiatry and Psychotic Disorders, Medical University of Lodz, Lodz, Poland</addr-line></nlm:aff><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Old Age Psychiatry and Psychotic Disorders, Medical University of Lodz, Lodz</wicri:regionArea><wicri:noRegion>Lodz</wicri:noRegion></affiliation></author><author><name sortKey="Soininen, Hilkka" sort="Soininen, Hilkka" uniqKey="Soininen H" first="Hilkka" last="Soininen">Hilkka Soininen</name><affiliation wicri:level="1"><nlm:aff id="aff5"><addr-line>Department of Neurology, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland</addr-line></nlm:aff><country xml:lang="fr">Finlande</country><wicri:regionArea>Department of Neurology, University of Eastern Finland and Kuopio University Hospital, Kuopio</wicri:regionArea><wicri:noRegion>Kuopio</wicri:noRegion></affiliation></author><author><name sortKey="Mecocci, Patrizia" sort="Mecocci, Patrizia" uniqKey="Mecocci P" first="Patrizia" last="Mecocci">Patrizia Mecocci</name><affiliation wicri:level="1"><nlm:aff id="aff6"><addr-line>Section of Gerontology and Geriatrics, Department of Clinical and Experimental Medicine, University of Perugia, Perugia, 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Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Psychological Medicine and Neurology, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff</wicri:regionArea><wicri:noRegion>Cardiff</wicri:noRegion></affiliation></author><author><name sortKey="Lovestone, Simon" sort="Lovestone, Simon" uniqKey="Lovestone S" first="Simon" last="Lovestone">Simon Lovestone</name><affiliation wicri:level="3"><nlm:aff id="aff1"><addr-line>MRC Centre for Neurodegeneration Research, Institute of Psychiatry, King's College London, London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Centre for Neurodegeneration Research, Institute of Psychiatry, King's College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand 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Lupton</name><affiliation wicri:level="3"><nlm:aff id="aff1"><addr-line>MRC Centre for Neurodegeneration Research, Institute of Psychiatry, King's College London, London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Centre for Neurodegeneration Research, Institute of Psychiatry, King's College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Proitsi, Petroula" sort="Proitsi, Petroula" uniqKey="Proitsi P" first="Petroula" last="Proitsi">Petroula Proitsi</name><affiliation wicri:level="3"><nlm:aff id="aff1"><addr-line>MRC Centre for Neurodegeneration Research, Institute of Psychiatry, King's College London, London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Centre for Neurodegeneration Research, Institute of Psychiatry, King's College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Danillidou, Makrina" sort="Danillidou, Makrina" uniqKey="Danillidou M" first="Makrina" last="Danillidou">Makrina Danillidou</name><affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>3rd Department of Neurology, Aristotle University of Thessaloniki, Thessaloniki, Greece</addr-line></nlm:aff><country xml:lang="fr">Grèce</country><wicri:regionArea>3rd Department of Neurology, Aristotle University of Thessaloniki, Thessaloniki</wicri:regionArea><wicri:noRegion>Thessaloniki</wicri:noRegion></affiliation></author><author><name sortKey="Tsolaki, Magda" sort="Tsolaki, Magda" uniqKey="Tsolaki M" first="Magda" last="Tsolaki">Magda Tsolaki</name><affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>3rd Department of Neurology, Aristotle University of Thessaloniki, Thessaloniki, Greece</addr-line></nlm:aff><country xml:lang="fr">Grèce</country><wicri:regionArea>3rd Department of Neurology, Aristotle University of Thessaloniki, Thessaloniki</wicri:regionArea><wicri:noRegion>Thessaloniki</wicri:noRegion></affiliation></author><author><name sortKey="Hamilton, Gillian" sort="Hamilton, Gillian" uniqKey="Hamilton G" first="Gillian" last="Hamilton">Gillian Hamilton</name><affiliation wicri:level="4"><nlm:aff id="aff3"><addr-line>Medical Genetics, Molecular Medicine Centre, Western General Hospital, University of Edinburgh, Edinburgh, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Genetics, Molecular Medicine Centre, Western General Hospital, University of Edinburgh, Edinburgh</wicri:regionArea><placeName><settlement type="city">Édimbourg</settlement><region type="country">Écosse</region></placeName><orgName type="university">Université d'Édimbourg</orgName></affiliation></author><author><name sortKey="Wroe, Richard" sort="Wroe, Richard" uniqKey="Wroe R" first="Richard" last="Wroe">Richard Wroe</name><affiliation wicri:level="3"><nlm:aff id="aff1"><addr-line>MRC Centre for Neurodegeneration Research, Institute of Psychiatry, King's College London, London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Centre for Neurodegeneration Research, Institute of Psychiatry, King's College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Pritchard, Megan" sort="Pritchard, Megan" uniqKey="Pritchard M" first="Megan" last="Pritchard">Megan Pritchard</name><affiliation wicri:level="3"><nlm:aff id="aff1"><addr-line>MRC Centre for Neurodegeneration Research, Institute of Psychiatry, King's College London, London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Centre for Neurodegeneration Research, Institute of Psychiatry, King's College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Lord, Kathryn" sort="Lord, Kathryn" uniqKey="Lord K" first="Kathryn" last="Lord">Kathryn Lord</name><affiliation wicri:level="3"><nlm:aff id="aff1"><addr-line>MRC Centre for Neurodegeneration Research, Institute of Psychiatry, King's College London, London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Centre for Neurodegeneration Research, Institute of Psychiatry, King's College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Martin, Belinda M" sort="Martin, Belinda M" uniqKey="Martin B" first="Belinda M." last="Martin">Belinda M. Martin</name><affiliation wicri:level="3"><nlm:aff id="aff1"><addr-line>MRC Centre for Neurodegeneration Research, Institute of Psychiatry, King's College London, London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Centre for Neurodegeneration Research, Institute of Psychiatry, King's College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Kloszewska, Iwona" sort="Kloszewska, Iwona" uniqKey="Kloszewska I" first="Iwona" last="Kloszewska">Iwona Kloszewska</name><affiliation wicri:level="1"><nlm:aff id="aff4"><addr-line>Department of Old Age Psychiatry and Psychotic Disorders, Medical University of Lodz, Lodz, Poland</addr-line></nlm:aff><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Old Age Psychiatry and Psychotic Disorders, Medical University of Lodz, Lodz</wicri:regionArea><wicri:noRegion>Lodz</wicri:noRegion></affiliation></author><author><name sortKey="Soininen, Hilkka" sort="Soininen, Hilkka" uniqKey="Soininen H" first="Hilkka" last="Soininen">Hilkka Soininen</name><affiliation wicri:level="1"><nlm:aff id="aff5"><addr-line>Department of Neurology, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland</addr-line></nlm:aff><country xml:lang="fr">Finlande</country><wicri:regionArea>Department of Neurology, University of Eastern Finland and Kuopio University Hospital, Kuopio</wicri:regionArea><wicri:noRegion>Kuopio</wicri:noRegion></affiliation></author><author><name sortKey="Mecocci, Patrizia" sort="Mecocci, Patrizia" uniqKey="Mecocci P" first="Patrizia" last="Mecocci">Patrizia Mecocci</name><affiliation wicri:level="1"><nlm:aff id="aff6"><addr-line>Section of Gerontology and Geriatrics, Department of Clinical and Experimental Medicine, University of Perugia, Perugia, Italy</addr-line></nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Section of Gerontology and Geriatrics, Department of Clinical and Experimental Medicine, University of Perugia, Perugia</wicri:regionArea><wicri:noRegion>Perugia</wicri:noRegion></affiliation></author><author><name sortKey="Vellas, Bruno" sort="Vellas, Bruno" uniqKey="Vellas B" first="Bruno" last="Vellas">Bruno Vellas</name><affiliation wicri:level="3"><nlm:aff id="aff7"><addr-line>Department of Internal and Geriatrics Medicine, Hôpitaux de Toulouse, Toulouse, France</addr-line></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of Internal and Geriatrics Medicine, Hôpitaux de Toulouse, Toulouse</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Midi-Pyrénées</region><settlement type="city">Toulouse</settlement></placeName></affiliation></author><author><name sortKey="Harold, Denise" sort="Harold, Denise" uniqKey="Harold D" first="Denise" last="Harold">Denise Harold</name><affiliation wicri:level="1"><nlm:aff id="aff8"><addr-line>Department of Psychological Medicine and Neurology, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Psychological Medicine and Neurology, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff</wicri:regionArea><wicri:noRegion>Cardiff</wicri:noRegion></affiliation></author><author><name sortKey="Hollingworth, Paul" sort="Hollingworth, Paul" uniqKey="Hollingworth P" first="Paul" last="Hollingworth">Paul Hollingworth</name><affiliation wicri:level="1"><nlm:aff id="aff8"><addr-line>Department of Psychological Medicine and Neurology, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Psychological Medicine and Neurology, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff</wicri:regionArea><wicri:noRegion>Cardiff</wicri:noRegion></affiliation></author><author><name sortKey="Lovestone, Simon" sort="Lovestone, Simon" uniqKey="Lovestone S" first="Simon" last="Lovestone">Simon Lovestone</name><affiliation wicri:level="3"><nlm:aff id="aff1"><addr-line>MRC Centre for Neurodegeneration Research, Institute of Psychiatry, King's College London, London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Centre for Neurodegeneration Research, Institute of Psychiatry, King's College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Powell, John F" sort="Powell, John F" uniqKey="Powell J" first="John F." last="Powell">John F. Powell</name><affiliation wicri:level="3"><nlm:aff id="aff1"><addr-line>MRC Centre for Neurodegeneration Research, Institute of Psychiatry, King's College London, London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Centre for Neurodegeneration Research, Institute of Psychiatry, King's College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></analytic><series><title level="j">PLoS ONE</title><idno type="eISSN">1932-6203</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Nicastrin is an obligatory component of the γ-secretase; the enzyme complex that leads to the production of Aβ fragments critically central to the pathogenesis of Alzheimer's disease (AD). Analyses of the effects of common variation in this gene on risk for late onset AD have been inconclusive. We investigated the effect of rare variation in the coding regions of the Nicastrin gene in a cohort of AD patients and matched controls using an innovative pooling approach and next generation sequencing. Five SNPs were identified and validated by individual genotyping from 311 cases and 360 controls. Association analysis identified a non-synonymous rare SNP (N417Y) with a statistically higher frequency in cases compared to controls in the Greek population (OR 3.994, CI 1.105–14.439, p = 0.035). This finding warrants further investigation in a larger cohort and adds weight to the hypothesis that rare variation explains some of genetic heritability still to be identified in Alzheimer's disease.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Harold, D" uniqKey="Harold D">D Harold</name></author><author><name sortKey="Abraham, R" uniqKey="Abraham R">R Abraham</name></author><author><name sortKey="Hollingworth, P" uniqKey="Hollingworth P">P Hollingworth</name></author><author><name sortKey="Sims, R" uniqKey="Sims R">R Sims</name></author><author><name sortKey="Gerrish, A" uniqKey="Gerrish A">A Gerrish</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Lambert, Jc" uniqKey="Lambert J">JC Lambert</name></author><author><name sortKey="Heath, S" uniqKey="Heath S">S Heath</name></author><author><name sortKey="Even, G" uniqKey="Even G">G Even</name></author><author><name sortKey="Campion, D" 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Daniilidou</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Li, H" uniqKey="Li H">H Li</name></author><author><name sortKey="Ruan, J" uniqKey="Ruan J">J Ruan</name></author><author><name sortKey="Durbin, R" uniqKey="Durbin R">R Durbin</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Finlande</li><li>France</li><li>Grèce</li><li>Italie</li><li>Pologne</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li><li>Midi-Pyrénées</li><li>Occitanie (région administrative)</li><li>Écosse</li></region><settlement><li>Londres</li><li>Toulouse</li><li>Édimbourg</li></settlement><orgName><li>Université d'Édimbourg</li></orgName></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Lupton, Michelle K" sort="Lupton, Michelle K" uniqKey="Lupton M" first="Michelle K." last="Lupton">Michelle K. Lupton</name></region><name sortKey="Hamilton, Gillian" sort="Hamilton, Gillian" uniqKey="Hamilton G" first="Gillian" last="Hamilton">Gillian Hamilton</name><name sortKey="Harold, Denise" sort="Harold, Denise" uniqKey="Harold D" first="Denise" last="Harold">Denise Harold</name><name sortKey="Hollingworth, Paul" sort="Hollingworth, Paul" uniqKey="Hollingworth P" first="Paul" last="Hollingworth">Paul Hollingworth</name><name sortKey="Lord, Kathryn" sort="Lord, Kathryn" uniqKey="Lord K" first="Kathryn" last="Lord">Kathryn Lord</name><name sortKey="Lovestone, Simon" sort="Lovestone, Simon" uniqKey="Lovestone S" first="Simon" last="Lovestone">Simon Lovestone</name><name sortKey="Martin, Belinda M" sort="Martin, Belinda M" uniqKey="Martin B" first="Belinda M." last="Martin">Belinda M. Martin</name><name sortKey="Powell, John F" sort="Powell, John F" uniqKey="Powell J" first="John F." last="Powell">John F. Powell</name><name sortKey="Pritchard, Megan" sort="Pritchard, Megan" uniqKey="Pritchard M" first="Megan" last="Pritchard">Megan Pritchard</name><name sortKey="Proitsi, Petroula" sort="Proitsi, Petroula" uniqKey="Proitsi P" first="Petroula" last="Proitsi">Petroula Proitsi</name><name sortKey="Wroe, Richard" sort="Wroe, Richard" uniqKey="Wroe R" first="Richard" last="Wroe">Richard Wroe</name></country><country name="Grèce"><noRegion><name sortKey="Danillidou, Makrina" sort="Danillidou, Makrina" uniqKey="Danillidou M" first="Makrina" last="Danillidou">Makrina Danillidou</name></noRegion><name sortKey="Tsolaki, Magda" sort="Tsolaki, Magda" uniqKey="Tsolaki M" first="Magda" last="Tsolaki">Magda Tsolaki</name></country><country name="Pologne"><noRegion><name sortKey="Kloszewska, Iwona" sort="Kloszewska, Iwona" uniqKey="Kloszewska I" first="Iwona" last="Kloszewska">Iwona Kloszewska</name></noRegion></country><country name="Finlande"><noRegion><name sortKey="Soininen, Hilkka" sort="Soininen, Hilkka" uniqKey="Soininen H" first="Hilkka" last="Soininen">Hilkka Soininen</name></noRegion></country><country name="Italie"><noRegion><name sortKey="Mecocci, Patrizia" sort="Mecocci, Patrizia" uniqKey="Mecocci P" first="Patrizia" last="Mecocci">Patrizia Mecocci</name></noRegion></country><country name="France"><region name="Occitanie (région administrative)"><name sortKey="Vellas, Bruno" sort="Vellas, Bruno" uniqKey="Vellas B" first="Bruno" last="Vellas">Bruno Vellas</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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