The p.Asp216His TOR1A allele effect is not found in the French population
Identifieur interne : 000232 ( France/Analysis ); précédent : 000231; suivant : 000233The 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
Affiliations:
- France
- Auvergne-Rhône-Alpes, Languedoc-Roussillon, Languedoc-Roussillon-Midi-Pyrénées, Midi-Pyrénées, Nord-Pas-de-Calais, Nord-Pas-de-Calais-Picardie, Rhône-Alpes, Île-de-France
- Université Claude Bernard Lyon1
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ISTEX:DB787F55A9A4FE6C41D77828B89D3783BA73103FLe document en format XML
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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><affiliations><list><country><li>France</li></country><region><li>Auvergne-Rhône-Alpes</li><li>Languedoc-Roussillon</li><li>Languedoc-Roussillon-Midi-Pyrénées</li><li>Midi-Pyrénées</li><li>Nord-Pas-de-Calais</li><li>Nord-Pas-de-Calais-Picardie</li><li>Rhône-Alpes</li><li>Île-de-France</li></region><orgName><li>Université Claude Bernard Lyon1</li></orgName></list><tree><country name="France"><region name="Languedoc-Roussillon-Midi-Pyrénées"><name sortKey="Frederic, Melissa Yana" sort="Frederic, Melissa Yana" uniqKey="Frederic M" first="Mélissa Yana" last="Frédéric">Mélissa Yana Frédéric</name></region><name sortKey="Blanchard, Arnaud" sort="Blanchard, Arnaud" uniqKey="Blanchard A" first="Arnaud" last="Blanchard">Arnaud Blanchard</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Calender, Alain" sort="Calender, Alain" uniqKey="Calender A" first="Alain" last="Calender">Alain Calender</name><name sortKey="Calender, Alain" sort="Calender, Alain" uniqKey="Calender A" first="Alain" last="Calender">Alain Calender</name><name sortKey="Cif, Laura" sort="Cif, Laura" uniqKey="Cif L" first="Laura" last="Cif">Laura Cif</name><name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name><name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name><name sortKey="Clot, Fabienne" sort="Clot, Fabienne" uniqKey="Clot F" first="Fabienne" last="Clot">Fabienne Clot</name><name sortKey="Clot, Fabienne" sort="Clot, Fabienne" uniqKey="Clot F" first="Fabienne" last="Clot">Fabienne Clot</name><name sortKey="Clot, Fabienne" sort="Clot, Fabienne" uniqKey="Clot F" first="Fabienne" last="Clot">Fabienne Clot</name><name sortKey="Clot, Fabienne" sort="Clot, Fabienne" uniqKey="Clot F" first="Fabienne" last="Clot">Fabienne Clot</name><name sortKey="Collod Eroud, Gwenaelle" sort="Collod Eroud, Gwenaelle" uniqKey="Collod Eroud G" first="Gwenaëlle" last="Collod-Beroud">Gwenaëlle Collod-Beroud</name><name sortKey="Dhaenens, Claire Arie" sort="Dhaenens, Claire Arie" uniqKey="Dhaenens C" first="Claire-Marie" last="Dhaenens">Claire-Marie Dhaenens</name><name sortKey="Dhaenens, Claire Arie" sort="Dhaenens, Claire Arie" uniqKey="Dhaenens C" first="Claire-Marie" last="Dhaenens">Claire-Marie Dhaenens</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><name sortKey="Lesca, Gaetan" sort="Lesca, Gaetan" uniqKey="Lesca G" first="Gaëtan" last="Lesca">Gaëtan Lesca</name><name sortKey="Lesca, Gaetan" sort="Lesca, Gaetan" uniqKey="Lesca G" first="Gaëtan" last="Lesca">Gaëtan Lesca</name><name sortKey="Martinez, Maria" sort="Martinez, Maria" uniqKey="Martinez M" first="Maria" last="Martinez">Maria Martinez</name><name sortKey="Molinari, Nicolas" sort="Molinari, Nicolas" uniqKey="Molinari N" first="Nicolas" last="Molinari">Nicolas Molinari</name><name sortKey="Sablonniere, Bernard" sort="Sablonniere, Bernard" uniqKey="Sablonniere B" first="Bernard" last="Sablonniere">Bernard Sablonniere</name><name sortKey="Sablonniere, Bernard" sort="Sablonniere, Bernard" uniqKey="Sablonniere B" first="Bernard" last="Sablonniere">Bernard Sablonniere</name><name sortKey="Tuffery Iraud, Sylvie" sort="Tuffery Iraud, Sylvie" uniqKey="Tuffery Iraud S" first="Sylvie" last="Tuffery-Giraud">Sylvie Tuffery-Giraud</name><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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