The p.Asp216His TOR1A allele effect is not found in the French population
Identifieur interne : 002881 ( Main/Merge ); précédent : 002880; suivant : 002882The p.Asp216His TOR1A allele effect is not found in the French population
Auteurs : Mélissa Yana Frédéric [France] ; Fabienne Clot [France] ; Arnaud Blanchard [France] ; Claire-Marie Dhaenens [France] ; Gaëtan Lesca [France] ; Laura Cif [France] ; Alexandra Dürr [France] ; Marie Vidailhet [France] ; Bernard Sablonniere [France] ; Alain Calender [France] ; Maria Martinez [France] ; Nicolas Molinari [France] ; Alexis Brice [France] ; Mireille Claustres [France] ; Sylvie Tuffery-Giraud [France] ; Gwenaëlle Collod-Beroud [France]Source :
- Movement Disorders [ 0885-3185 ] ; 2009-04-30.
Descripteurs français
- Wicri :
- geographic : France.
English descriptors
- KwdEn :
- Alleles, Aspartic Acid (genetics), DNA Mutational Analysis, DYT1, Dystonic Disorders (genetics), France (epidemiology), France (ethnology), Gene Frequency, Histidine (genetics), Humans, Molecular Chaperones (genetics), Polymorphism, Single Nucleotide (genetics), TOR1A, dystonia, genetic modifiers, movement disorders, population studies.
- MESH :
- chemical , genetics : Aspartic Acid, Histidine, Molecular Chaperones.
- geographic , epidemiology : France.
- geographic , ethnology : France.
- genetics : Dystonic Disorders, Polymorphism, Single Nucleotide.
- Alleles, DNA Mutational Analysis, Gene Frequency, Humans.
Abstract
DYT1 dystonia are one of the exceptions in human genetics with its unique and recurrent mutation (c.907delGAG). In this rare movement disorder, the mutation is associated with incomplete penetrance as well as great clinical variability, making this disease a benchmark to search for genetic modifiers. Recently, Risch et al. have demonstrated the implication of the rs1801968 SNP in disease penetrance. We attempted to replicate this result in an exhaustive DYT1 French population with no success. Our results argue that the rs1801968 H allele effect is not part of the modifiers in the French population of DYT1 patients and that others have to be identified in our population. © 2008 Movement Disorder Society
Url:
- https://api.istex.fr/document/DB787F55A9A4FE6C41D77828B89D3783BA73103F/fulltext/pdf
- http://www.hal.inserm.fr/inserm-00396259
DOI: 10.1002/mds.22407
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ISTEX:DB787F55A9A4FE6C41D77828B89D3783BA73103FLe document en format XML
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nuts="2">Rhône-Alpes</region></placeName><orgName type="university">Université Claude Bernard Lyon1</orgName></affiliation></author><author><name sortKey="Martinez, Maria" sort="Martinez, Maria" uniqKey="Martinez M" first="Maria" last="Martinez">Maria Martinez</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U563, Toulouse, F‐31024</wicri:regionArea><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Midi-Pyrénées</region></placeName></affiliation></author><author><name sortKey="Molinari, Nicolas" sort="Molinari, Nicolas" uniqKey="Molinari N" first="Nicolas" last="Molinari">Nicolas Molinari</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>CHU Nîmes, Département d'Information Médicale, Nîmes, F‐30025</wicri:regionArea><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale, Paris, F‐75013</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>UPMC Univ Paris 06, UMR_S679, Paris, F‐75005</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Institut Fédératif des Neurosciences (IFR70), Hôpital Pitié‐Salpêtrière, Paris, F‐75013</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>AP‐HP, Hôpital Pitié‐Salpêtrière, Département de Génétique et Cytogénétique, Paris, F‐75013</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>AP‐HP, Hôpital Pitié‐Salpêtrière, Fédération des Maladies du Système Nerveux, Paris, F‐75013</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U827, Montpellier, F‐34000</wicri:regionArea><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation><affiliation><wicri:noCountry code="subField">F‐34000 France</wicri:noCountry></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire, Montpellier, F‐34000</wicri:regionArea><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation></author><author><name sortKey="Tuffery Iraud, Sylvie" sort="Tuffery Iraud, Sylvie" uniqKey="Tuffery Iraud S" first="Sylvie" last="Tuffery-Giraud">Sylvie Tuffery-Giraud</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U827, Montpellier, F‐34000</wicri:regionArea><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation><affiliation><wicri:noCountry code="subField">F‐34000 France</wicri:noCountry></affiliation></author><author><name sortKey="Collod Eroud, Gwenaelle" sort="Collod Eroud, Gwenaelle" uniqKey="Collod Eroud G" first="Gwenaëlle" last="Collod-Beroud">Gwenaëlle Collod-Beroud</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U827, Montpellier, F‐34000</wicri:regionArea><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation><affiliation><wicri:noCountry code="subField">F‐34000 France</wicri:noCountry></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2009-04-30">2009-04-30</date><biblScope unit="vol">24</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="919">919</biblScope><biblScope unit="page" to="921">921</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">DB787F55A9A4FE6C41D77828B89D3783BA73103F</idno><idno type="DOI">10.1002/mds.22407</idno><idno type="ArticleID">MDS22407</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Alleles</term><term>Aspartic Acid (genetics)</term><term>DNA Mutational Analysis</term><term>DYT1</term><term>Dystonic Disorders (genetics)</term><term>France (epidemiology)</term><term>France (ethnology)</term><term>Gene Frequency</term><term>Histidine (genetics)</term><term>Humans</term><term>Molecular Chaperones (genetics)</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>TOR1A</term><term>dystonia</term><term>genetic modifiers</term><term>movement disorders</term><term>population studies</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Aspartic Acid</term><term>Histidine</term><term>Molecular Chaperones</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>France</term></keywords><keywords scheme="MESH" type="geographic" qualifier="ethnology" xml:lang="en"><term>France</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Alleles</term><term>DNA Mutational Analysis</term><term>Gene Frequency</term><term>Humans</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>France</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="fr">DYT1 dystonia are one of the exceptions in human genetics with its unique and recurrent mutation (c.907delGAG). In this rare movement disorder, the mutation is associated with incomplete penetrance as well as great clinical variability, making this disease a benchmark to search for genetic modifiers. Recently, Risch et al. have demonstrated the implication of the rs1801968 SNP in disease penetrance. We attempted to replicate this result in an exhaustive DYT1 French population with no success. Our results argue that the rs1801968 H allele effect is not part of the modifiers in the French population of DYT1 patients and that others have to be identified in our population. © 2008 Movement Disorder Society</div></front></TEI><double doi="10.1002/mds.22407"><HAL><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">The p.Asp216His TOR1A allele effect is not found in the French population.</title><author><name sortKey="Frederic, Melissa Yana" sort="Frederic, Melissa Yana" uniqKey="Frederic M" first="Mélissa Yana" last="Frédéric">Mélissa Yana Frédéric</name><affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-27447" status="VALID"><orgName>Laboratoire de génétique des maladies rares. 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Paris 6</orgName><orgName type="acronym">UPMC</orgName><desc><address><addrLine>4 place Jussieu - 75005 Paris</addrLine><country key="FR"></country></address><ref type="url">http://www.upmc.fr/</ref></desc></org></tutelle><tutelle name="U679" active="#struct-300002" type="direct"><org type="institution" xml:id="struct-300002" status="VALID"><orgName>INSERM</orgName><desc><address><country key="FR"></country></address></desc></org></tutelle><tutelle active="#struct-300636" type="direct"><org type="institution" xml:id="struct-300636" status="VALID"><orgName>IFR70</orgName><desc><address><country key="FR"></country></address></desc></org></tutelle></tutelles></hal:affiliation><country>France</country></affiliation></author><author><name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name><affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-27447" status="VALID"><orgName>Laboratoire de génétique des maladies rares. 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Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques</orgName><desc><address><addrLine>IURC 641, avenue du doyen gaston giraud CHU montpellier 34093 MONTPELLIER CEDEX 5</addrLine><country key="FR"></country></address></desc><listRelation><relation active="#struct-42570" type="direct"></relation><relation name="U827" active="#struct-300002" type="direct"></relation><relation active="#struct-300451" type="direct"></relation></listRelation><tutelles><tutelle active="#struct-42570" type="direct"><org type="institution" xml:id="struct-42570" status="VALID"><orgName>Université Montpellier 1</orgName><orgName type="acronym">UM1</orgName><desc><address><addrLine>5, boulevard Henri IV - CS 19044 - 34967 Montpellier cedex</addrLine><country key="FR"></country></address><ref type="url">http://www.univ-montp1.fr/</ref></desc></org></tutelle><tutelle name="U827" active="#struct-300002" type="direct"><org type="institution" xml:id="struct-300002" status="VALID"><orgName>INSERM</orgName><desc><address><country key="FR"></country></address></desc></org></tutelle><tutelle active="#struct-300451" type="direct"><org type="institution" xml:id="struct-300451" status="VALID"><orgName>IFR3</orgName><desc><address><country key="FR"></country></address></desc></org></tutelle></tutelles></hal:affiliation><country>France</country><placeName><settlement type="city">Montpellier</settlement><region type="region" nuts="2">Languedoc-Roussillon</region></placeName><orgName type="university">Université Montpellier 1</orgName><orgName type="institution" wicri:auto="newGroup">PRES Sud de France</orgName></affiliation></author><author><name sortKey="Collod Beroud, Gwenaelle" sort="Collod Beroud, Gwenaelle" uniqKey="Collod Beroud G" first="Gwenaëlle" last="Collod-Beroud">Gwenaëlle Collod-Beroud</name><affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-27447" status="VALID"><orgName>Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques</orgName><desc><address><addrLine>IURC 641, avenue du doyen gaston giraud CHU montpellier 34093 MONTPELLIER CEDEX 5</addrLine><country key="FR"></country></address></desc><listRelation><relation active="#struct-42570" type="direct"></relation><relation name="U827" active="#struct-300002" type="direct"></relation><relation active="#struct-300451" type="direct"></relation></listRelation><tutelles><tutelle active="#struct-42570" type="direct"><org type="institution" xml:id="struct-42570" status="VALID"><orgName>Université Montpellier 1</orgName><orgName type="acronym">UM1</orgName><desc><address><addrLine>5, boulevard Henri IV - CS 19044 - 34967 Montpellier cedex</addrLine><country key="FR"></country></address><ref type="url">http://www.univ-montp1.fr/</ref></desc></org></tutelle><tutelle name="U827" active="#struct-300002" type="direct"><org type="institution" xml:id="struct-300002" status="VALID"><orgName>INSERM</orgName><desc><address><country key="FR"></country></address></desc></org></tutelle><tutelle active="#struct-300451" type="direct"><org type="institution" xml:id="struct-300451" status="VALID"><orgName>IFR3</orgName><desc><address><country key="FR"></country></address></desc></org></tutelle></tutelles></hal:affiliation><country>France</country><placeName><settlement type="city">Montpellier</settlement><region type="region" nuts="2">Languedoc-Roussillon</region></placeName><orgName type="university">Université Montpellier 1</orgName><orgName type="institution" wicri:auto="newGroup">PRES Sud de France</orgName></affiliation></author></analytic><idno type="DOI">10.1002/mds.22407</idno><series><title level="j">Movement Disorders</title><idno type="ISSN">0885-3185</idno><imprint><date type="datePub">2009-04-30</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">DYT1 dystonia are one of the exceptions in human genetics with its unique and recurrent mutation (c.907delGAG). In this rare movement disorder, the mutation is associated with incomplete penetrance as well as great clinical variability, making this disease a benchmark to search for genetic modifiers. Recently, Risch et al. have demonstrated the implication of the rs1801968 SNP in disease penetrance. We attempted to replicate this result in an exhaustive DYT1 French population with no success. Our results argue that the rs1801968 H allele effect is not part of the modifiers in the French population of DYT1 patients and that others have to be identified in our population.</div></front></TEI></HAL><ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">The p.Asp216His TOR1A allele effect is not found in the French population</title><author><name sortKey="Frederic, Melissa Yana" sort="Frederic, Melissa Yana" uniqKey="Frederic M" first="Mélissa Yana" last="Frédéric">Mélissa Yana Frédéric</name></author><author><name sortKey="Clot, Fabienne" sort="Clot, Fabienne" uniqKey="Clot F" first="Fabienne" last="Clot">Fabienne Clot</name></author><author><name sortKey="Blanchard, Arnaud" sort="Blanchard, Arnaud" uniqKey="Blanchard A" first="Arnaud" last="Blanchard">Arnaud Blanchard</name></author><author><name sortKey="Dhaenens, Claire Arie" sort="Dhaenens, Claire Arie" uniqKey="Dhaenens C" first="Claire-Marie" last="Dhaenens">Claire-Marie Dhaenens</name></author><author><name sortKey="Lesca, Gaetan" sort="Lesca, Gaetan" uniqKey="Lesca G" first="Gaëtan" last="Lesca">Gaëtan Lesca</name></author><author><name sortKey="Cif, Laura" sort="Cif, Laura" uniqKey="Cif L" first="Laura" last="Cif">Laura Cif</name></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name></author><author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name></author><author><name sortKey="Sablonniere, Bernard" sort="Sablonniere, Bernard" uniqKey="Sablonniere B" first="Bernard" last="Sablonniere">Bernard Sablonniere</name></author><author><name sortKey="Calender, Alain" sort="Calender, Alain" uniqKey="Calender A" first="Alain" last="Calender">Alain Calender</name></author><author><name sortKey="Martinez, Maria" sort="Martinez, Maria" uniqKey="Martinez M" first="Maria" last="Martinez">Maria Martinez</name></author><author><name sortKey="Molinari, Nicolas" sort="Molinari, Nicolas" uniqKey="Molinari N" first="Nicolas" last="Molinari">Nicolas Molinari</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author><author><name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name></author><author><name sortKey="Tuffery Iraud, Sylvie" sort="Tuffery Iraud, Sylvie" uniqKey="Tuffery Iraud S" first="Sylvie" last="Tuffery-Giraud">Sylvie Tuffery-Giraud</name></author><author><name sortKey="Collod Eroud, Gwenaelle" sort="Collod Eroud, Gwenaelle" uniqKey="Collod Eroud G" first="Gwenaëlle" last="Collod-Beroud">Gwenaëlle Collod-Beroud</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:DB787F55A9A4FE6C41D77828B89D3783BA73103F</idno><date when="2009" year="2009">2009</date><idno type="doi">10.1002/mds.22407</idno><idno type="url">https://api.istex.fr/document/DB787F55A9A4FE6C41D77828B89D3783BA73103F/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001412</idno><idno type="wicri:Area/Istex/Curation">001412</idno><idno type="wicri:Area/Istex/Checkpoint">000C22</idno><idno type="wicri:doubleKey">0885-3185:2009:Frederic M:the:p:asp</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">The p.Asp216His TOR1A allele effect is not found in the French population</title><author><name sortKey="Frederic, Melissa Yana" sort="Frederic, Melissa Yana" uniqKey="Frederic M" first="Mélissa Yana" last="Frédéric">Mélissa Yana Frédéric</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U827, Montpellier, F‐34000</wicri:regionArea><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation><affiliation><wicri:noCountry code="subField">F‐34000 France</wicri:noCountry></affiliation></author><author><name sortKey="Clot, Fabienne" sort="Clot, Fabienne" uniqKey="Clot F" first="Fabienne" last="Clot">Fabienne Clot</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale, Paris, F‐75013</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>UPMC Univ Paris 06, UMR_S679, Paris, F‐75005</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Institut Fédératif des Neurosciences (IFR70), Hôpital Pitié‐Salpêtrière, Paris, F‐75013</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>AP‐HP, Hôpital Pitié‐Salpêtrière, Département de Génétique et Cytogénétique, Paris, F‐75013</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Blanchard, Arnaud" sort="Blanchard, Arnaud" uniqKey="Blanchard A" first="Arnaud" last="Blanchard">Arnaud Blanchard</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U827, Montpellier, F‐34000</wicri:regionArea><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation><affiliation><wicri:noCountry code="subField">F‐34000 France</wicri:noCountry></affiliation></author><author><name sortKey="Dhaenens, Claire Arie" sort="Dhaenens, Claire Arie" uniqKey="Dhaenens C" first="Claire-Marie" last="Dhaenens">Claire-Marie Dhaenens</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>CHRU de Lille, UF de Neurobiologie, Centre de Biologie‐Pathologie, Lille, F‐59037</wicri:regionArea><placeName><region type="region" nuts="2">Nord-Pas-de-Calais-Picardie</region><region type="old region" nuts="2">Nord-Pas-de-Calais</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U837, Institut de Médecine Prédictive et de Recherche Thérapeutique, Lille, F‐59045</wicri:regionArea><placeName><region type="region" nuts="2">Nord-Pas-de-Calais-Picardie</region><region type="old region" nuts="2">Nord-Pas-de-Calais</region></placeName></affiliation></author><author><name sortKey="Lesca, Gaetan" sort="Lesca, Gaetan" uniqKey="Lesca G" first="Gaëtan" last="Lesca">Gaëtan Lesca</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Hôpital Edouard Herriot, Service de Génétique Moléculaire et Clinique, Lyon, F‐69437</wicri:regionArea><placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region><region type="old region" nuts="2">Rhône-Alpes</region></placeName></affiliation><affiliation wicri:level="4"><country xml:lang="fr">France</country><wicri:regionArea>Université Claude Bernard Lyon 1, Villeurbanne, F‐69622</wicri:regionArea><placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region><region type="old region" nuts="2">Rhône-Alpes</region></placeName><orgName type="university">Université Claude Bernard Lyon1</orgName></affiliation></author><author><name sortKey="Cif, Laura" sort="Cif, Laura" uniqKey="Cif L" first="Laura" last="Cif">Laura Cif</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>CHU Montpellier, Hôpital Guy de Chauliac, Service de Neurochirurgie, Montpellier, F‐34000</wicri:regionArea><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale, Paris, F‐75013</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>UPMC Univ Paris 06, UMR_S679, Paris, F‐75005</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Institut Fédératif des Neurosciences (IFR70), Hôpital Pitié‐Salpêtrière, Paris, F‐75013</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>AP‐HP, Hôpital Pitié‐Salpêtrière, Département de Génétique et Cytogénétique, Paris, F‐75013</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale, Paris, F‐75013</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>UPMC Univ Paris 06, UMR_S679, Paris, F‐75005</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Institut Fédératif des Neurosciences (IFR70), Hôpital Pitié‐Salpêtrière, Paris, F‐75013</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>AP‐HP, Hôpital Pitié‐Salpêtrière, Fédération des Maladies du Système Nerveux, Paris, F‐75013</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Sablonniere, Bernard" sort="Sablonniere, Bernard" uniqKey="Sablonniere B" first="Bernard" last="Sablonniere">Bernard Sablonniere</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>CHRU de Lille, UF de Neurobiologie, Centre de Biologie‐Pathologie, Lille, F‐59037</wicri:regionArea><placeName><region type="region" nuts="2">Nord-Pas-de-Calais-Picardie</region><region type="old region" nuts="2">Nord-Pas-de-Calais</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U837, Institut de Médecine Prédictive et de Recherche Thérapeutique, Lille, F‐59045</wicri:regionArea><placeName><region type="region" nuts="2">Nord-Pas-de-Calais-Picardie</region><region type="old region" nuts="2">Nord-Pas-de-Calais</region></placeName></affiliation></author><author><name sortKey="Calender, Alain" sort="Calender, Alain" uniqKey="Calender A" first="Alain" last="Calender">Alain Calender</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Hôpital Edouard Herriot, Service de Génétique Moléculaire et Clinique, Lyon, F‐69437</wicri:regionArea><placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region><region type="old region" nuts="2">Rhône-Alpes</region></placeName></affiliation><affiliation wicri:level="4"><country xml:lang="fr">France</country><wicri:regionArea>Université Claude Bernard Lyon 1, Villeurbanne, F‐69622</wicri:regionArea><placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region><region type="old region" nuts="2">Rhône-Alpes</region></placeName><orgName type="university">Université Claude Bernard Lyon1</orgName></affiliation></author><author><name sortKey="Martinez, Maria" sort="Martinez, Maria" uniqKey="Martinez M" first="Maria" last="Martinez">Maria Martinez</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U563, Toulouse, F‐31024</wicri:regionArea><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Midi-Pyrénées</region></placeName></affiliation></author><author><name sortKey="Molinari, Nicolas" sort="Molinari, Nicolas" uniqKey="Molinari N" first="Nicolas" last="Molinari">Nicolas Molinari</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>CHU Nîmes, Département d'Information Médicale, Nîmes, F‐30025</wicri:regionArea><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale, Paris, F‐75013</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>UPMC Univ Paris 06, UMR_S679, Paris, F‐75005</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Institut Fédératif des Neurosciences (IFR70), Hôpital Pitié‐Salpêtrière, Paris, F‐75013</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>AP‐HP, Hôpital Pitié‐Salpêtrière, Département de Génétique et Cytogénétique, Paris, F‐75013</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>AP‐HP, Hôpital Pitié‐Salpêtrière, Fédération des Maladies du Système Nerveux, Paris, F‐75013</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U827, Montpellier, F‐34000</wicri:regionArea><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation><affiliation><wicri:noCountry code="subField">F‐34000 France</wicri:noCountry></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire, Montpellier, F‐34000</wicri:regionArea><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation></author><author><name sortKey="Tuffery Iraud, Sylvie" sort="Tuffery Iraud, Sylvie" uniqKey="Tuffery Iraud S" first="Sylvie" last="Tuffery-Giraud">Sylvie Tuffery-Giraud</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U827, Montpellier, F‐34000</wicri:regionArea><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation><affiliation><wicri:noCountry code="subField">F‐34000 France</wicri:noCountry></affiliation></author><author><name sortKey="Collod Eroud, Gwenaelle" sort="Collod Eroud, Gwenaelle" uniqKey="Collod Eroud G" first="Gwenaëlle" last="Collod-Beroud">Gwenaëlle Collod-Beroud</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U827, Montpellier, F‐34000</wicri:regionArea><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation><affiliation><wicri:noCountry code="subField">F‐34000 France</wicri:noCountry></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2009-04-30">2009-04-30</date><biblScope unit="vol">24</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="919">919</biblScope><biblScope unit="page" to="921">921</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">DB787F55A9A4FE6C41D77828B89D3783BA73103F</idno><idno type="DOI">10.1002/mds.22407</idno><idno type="ArticleID">MDS22407</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>DYT1</term><term>TOR1A</term><term>dystonia</term><term>genetic modifiers</term><term>movement disorders</term><term>population studies</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="fr">DYT1 dystonia are one of the exceptions in human genetics with its unique and recurrent mutation (c.907delGAG). In this rare movement disorder, the mutation is associated with incomplete penetrance as well as great clinical variability, making this disease a benchmark to search for genetic modifiers. Recently, Risch et al. have demonstrated the implication of the rs1801968 SNP in disease penetrance. We attempted to replicate this result in an exhaustive DYT1 French population with no success. Our results argue that the rs1801968 H allele effect is not part of the modifiers in the French population of DYT1 patients and that others have to be identified in our population. © 2008 Movement Disorder Society</div></front></TEI></ISTEX><PubMed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">The p.Asp216His TOR1A allele effect is not found in the French population.</title><author><name sortKey="Frederic, Melissa Yana" sort="Frederic, Melissa Yana" uniqKey="Frederic M" first="Mélissa Yana" last="Frédéric">Mélissa Yana Frédéric</name><affiliation wicri:level="1"><nlm:affiliation>INSERM U827, Institut Universitaire de Recherche Clinique, 641 av du doyen Gaston Giraud, Montpellier Cedex 05, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U827, Institut Universitaire de Recherche Clinique, 641 av du doyen Gaston Giraud, Montpellier Cedex 05</wicri:regionArea><wicri:noRegion>Montpellier Cedex 05</wicri:noRegion><wicri:noRegion>Montpellier Cedex 05</wicri:noRegion></affiliation></author><author><name sortKey="Clot, Fabienne" sort="Clot, Fabienne" uniqKey="Clot F" first="Fabienne" last="Clot">Fabienne Clot</name></author><author><name sortKey="Blanchard, Arnaud" sort="Blanchard, Arnaud" uniqKey="Blanchard A" first="Arnaud" last="Blanchard">Arnaud Blanchard</name></author><author><name sortKey="Dhaenens, Claire Marie" sort="Dhaenens, Claire Marie" uniqKey="Dhaenens C" first="Claire-Marie" last="Dhaenens">Claire-Marie Dhaenens</name></author><author><name sortKey="Lesca, Gaetan" sort="Lesca, Gaetan" uniqKey="Lesca G" first="Gaëtan" last="Lesca">Gaëtan Lesca</name></author><author><name sortKey="Cif, Laura" sort="Cif, Laura" uniqKey="Cif L" first="Laura" last="Cif">Laura Cif</name></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name></author><author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name></author><author><name sortKey="Sablonniere, Bernard" sort="Sablonniere, Bernard" uniqKey="Sablonniere B" first="Bernard" last="Sablonniere">Bernard Sablonniere</name></author><author><name sortKey="Calender, Alain" sort="Calender, Alain" uniqKey="Calender A" first="Alain" last="Calender">Alain Calender</name></author><author><name sortKey="Martinez, Maria" sort="Martinez, Maria" uniqKey="Martinez M" first="Maria" last="Martinez">Maria Martinez</name></author><author><name sortKey="Molinari, Nicolas" sort="Molinari, Nicolas" uniqKey="Molinari N" first="Nicolas" last="Molinari">Nicolas Molinari</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author><author><name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name></author><author><name sortKey="Tuffery Giraud, Sylvie" sort="Tuffery Giraud, Sylvie" uniqKey="Tuffery Giraud S" first="Sylvie" last="Tuffery-Giraud">Sylvie Tuffery-Giraud</name></author><author><name sortKey="Collod Beroud, Gwenaelle" sort="Collod Beroud, Gwenaelle" uniqKey="Collod Beroud G" first="Gwenaëlle" last="Collod-Beroud">Gwenaëlle Collod-Beroud</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2009">2009</date><idno type="doi">10.1002/mds.22407</idno><idno type="RBID">pubmed:19260107</idno><idno type="pmid">19260107</idno><idno type="wicri:Area/PubMed/Corpus">001D86</idno><idno type="wicri:Area/PubMed/Curation">001D86</idno><idno type="wicri:Area/PubMed/Checkpoint">001B34</idno><idno type="wicri:Area/Ncbi/Merge">002591</idno><idno type="wicri:Area/Ncbi/Curation">002591</idno><idno type="wicri:Area/Ncbi/Checkpoint">002591</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">The p.Asp216His TOR1A allele effect is not found in the French population.</title><author><name sortKey="Frederic, Melissa Yana" sort="Frederic, Melissa Yana" uniqKey="Frederic M" first="Mélissa Yana" last="Frédéric">Mélissa Yana Frédéric</name><affiliation wicri:level="1"><nlm:affiliation>INSERM U827, Institut Universitaire de Recherche Clinique, 641 av du doyen Gaston Giraud, Montpellier Cedex 05, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U827, Institut Universitaire de Recherche Clinique, 641 av du doyen Gaston Giraud, Montpellier Cedex 05</wicri:regionArea><wicri:noRegion>Montpellier Cedex 05</wicri:noRegion><wicri:noRegion>Montpellier Cedex 05</wicri:noRegion></affiliation></author><author><name sortKey="Clot, Fabienne" sort="Clot, Fabienne" uniqKey="Clot F" first="Fabienne" last="Clot">Fabienne Clot</name></author><author><name sortKey="Blanchard, Arnaud" sort="Blanchard, Arnaud" uniqKey="Blanchard A" first="Arnaud" last="Blanchard">Arnaud Blanchard</name></author><author><name sortKey="Dhaenens, Claire Marie" sort="Dhaenens, Claire Marie" uniqKey="Dhaenens C" first="Claire-Marie" last="Dhaenens">Claire-Marie Dhaenens</name></author><author><name sortKey="Lesca, Gaetan" sort="Lesca, Gaetan" uniqKey="Lesca G" first="Gaëtan" last="Lesca">Gaëtan Lesca</name></author><author><name sortKey="Cif, Laura" sort="Cif, Laura" uniqKey="Cif L" first="Laura" last="Cif">Laura Cif</name></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name></author><author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name></author><author><name sortKey="Sablonniere, Bernard" sort="Sablonniere, Bernard" uniqKey="Sablonniere B" first="Bernard" last="Sablonniere">Bernard Sablonniere</name></author><author><name sortKey="Calender, Alain" sort="Calender, Alain" uniqKey="Calender A" first="Alain" last="Calender">Alain Calender</name></author><author><name sortKey="Martinez, Maria" sort="Martinez, Maria" uniqKey="Martinez M" first="Maria" last="Martinez">Maria Martinez</name></author><author><name sortKey="Molinari, Nicolas" sort="Molinari, Nicolas" uniqKey="Molinari N" first="Nicolas" last="Molinari">Nicolas Molinari</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author><author><name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name></author><author><name sortKey="Tuffery Giraud, Sylvie" sort="Tuffery Giraud, Sylvie" uniqKey="Tuffery Giraud S" first="Sylvie" last="Tuffery-Giraud">Sylvie Tuffery-Giraud</name></author><author><name sortKey="Collod Beroud, Gwenaelle" sort="Collod Beroud, Gwenaelle" uniqKey="Collod Beroud G" first="Gwenaëlle" last="Collod-Beroud">Gwenaëlle Collod-Beroud</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2009" type="published">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Alleles</term><term>Aspartic Acid (genetics)</term><term>DNA Mutational Analysis</term><term>Dystonic Disorders (genetics)</term><term>France (epidemiology)</term><term>France (ethnology)</term><term>Gene Frequency</term><term>Histidine (genetics)</term><term>Humans</term><term>Molecular Chaperones (genetics)</term><term>Polymorphism, Single Nucleotide (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Aspartic Acid</term><term>Histidine</term><term>Molecular Chaperones</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>France</term></keywords><keywords scheme="MESH" type="geographic" qualifier="ethnology" xml:lang="en"><term>France</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Alleles</term><term>DNA Mutational Analysis</term><term>Gene Frequency</term><term>Humans</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>France</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">DYT1 dystonia are one of the exceptions in human genetics with its unique and recurrent mutation (c.907delGAG). In this rare movement disorder, the mutation is associated with incomplete penetrance as well as great clinical variability, making this disease a benchmark to search for genetic modifiers. Recently, Risch et al. have demonstrated the implication of the rs1801968 SNP in disease penetrance. We attempted to replicate this result in an exhaustive DYT1 French population with no success. Our results argue that the rs1801968 H allele effect is not part of the modifiers in the French population of DYT1 patients and that others have to be identified in our population.</div></front></TEI></PubMed></double></record>Pour manipuler ce document sous Unix (Dilib)
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