Rapid screening of ATP13A2 variant with high‐resolution melting analysis
Identifieur interne : 001A66 ( Main/Exploration ); précédent : 001A65; suivant : 001A67Rapid screening of ATP13A2 variant with high‐resolution melting analysis
Auteurs : Manabu Funayama [Japon] ; Hiroyuki Tomiyama [Japon] ; Ruey-Meei Wu [Taïwan] ; Kotaro Ogaki [Japon] ; Hiroyo Yoshino [Japon] ; Yoshikuni Mizuno [Japon] ; Nobutaka Hattori [Japon]Source :
- Movement Disorders [ 0885-3185 ] ; 2010-10-30.
Descripteurs français
- Pascal (Inist)
- Wicri :
- geographic : Japon.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Aged, 80 and over, Asian Continental Ancestry Group (ethnology), Cross-Cultural Comparison, Female, Genetic Predisposition to Disease, Genetic Testing, Genetic Variation (genetics), Genotype, High resolution, Humans, Japan (epidemiology), Japan (ethnology), Male, Medical screening, Melting, Middle Aged, Nervous system diseases, PARK9, Parkinson Disease (genetics), Parkinson disease, Parkinson's disease, Proton-Translocating ATPases (genetics), Risk factor, Young Adult, gene risk factor, lightscanner.
- MESH :
- chemical , genetics : Proton-Translocating ATPases.
- geographic , epidemiology : Japan.
- ethnology : Asian Continental Ancestry Group, Japan.
- genetics : Genetic Variation, Parkinson Disease.
- Adolescent, Adult, Aged, Aged, 80 and over, Cross-Cultural Comparison, Female, Genetic Predisposition to Disease, Genetic Testing, Genotype, Humans, Male, Middle Aged, Young Adult.
Abstract
Several genetic and environmental factors are involved in the pathogenesis of Parkinson's disease (PD). Recently, a novel variant of ATP13A2 (p.A746T) responsible for PARK9 was reported as a risk factor for PD in the Han‐Chinese population. To investigate the role of this variant in Japanese PD patients, we examined 917 Japanese PD patients (871 index cases) and 190 controls by high‐resolution melting curve analysis. We detected heterozygous p.A746T variant in a single patient with sporadic PD and a single control subject. These results suggest that ATP13A2 p.A746T variant is unlikely to play a role as a common risk factor or a pathogenic mutation for PD at least in Japanese. Our data on Japanese differ from those reported recently on Han‐Chinese. Further studies are needed to confirm conclusions on roles of ATP13A2 variant in Asians or other populations. © 2010 Movement Disorder Society.
Url:
DOI: 10.1002/mds.23106
Affiliations:
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wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Juntendo University School of 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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="2010-10-30">2010-10-30</date><biblScope unit="vol">25</biblScope><biblScope unit="issue">14</biblScope><biblScope unit="page" from="2434">2434</biblScope><biblScope unit="page" to="2437">2437</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">729851685FA90774262460A7CD9C1C1354B32587</idno><idno type="DOI">10.1002/mds.23106</idno><idno type="ArticleID">MDS23106</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Asian Continental Ancestry Group (ethnology)</term><term>Cross-Cultural Comparison</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Genetic Testing</term><term>Genetic Variation (genetics)</term><term>Genotype</term><term>High resolution</term><term>Humans</term><term>Japan (epidemiology)</term><term>Japan (ethnology)</term><term>Male</term><term>Medical screening</term><term>Melting</term><term>Middle Aged</term><term>Nervous system diseases</term><term>PARK9</term><term>Parkinson Disease (genetics)</term><term>Parkinson disease</term><term>Parkinson's disease</term><term>Proton-Translocating ATPases (genetics)</term><term>Risk factor</term><term>Young Adult</term><term>gene risk factor</term><term>lightscanner</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Proton-Translocating ATPases</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Japan</term></keywords><keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>Asian Continental Ancestry Group</term><term>Japan</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genetic Variation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Cross-Cultural Comparison</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Genetic Testing</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Young Adult</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dépistage</term><term>Facteur risque</term><term>Fusion</term><term>Haute résolution</term><term>Maladie de Parkinson</term><term>Pathologie du système nerveux</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Japon</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Several genetic and environmental factors are involved in the pathogenesis of Parkinson's disease (PD). Recently, a novel variant of ATP13A2 (p.A746T) responsible for PARK9 was reported as a risk factor for PD in the Han‐Chinese population. To investigate the role of this variant in Japanese PD patients, we examined 917 Japanese PD patients (871 index cases) and 190 controls by high‐resolution melting curve analysis. We detected heterozygous p.A746T variant in a single patient with sporadic PD and a single control subject. These results suggest that ATP13A2 p.A746T variant is unlikely to play a role as a common risk factor or a pathogenic mutation for PD at least in Japanese. Our data on Japanese differ from those reported recently on Han‐Chinese. Further studies are needed to confirm conclusions on roles of ATP13A2 variant in Asians or other populations. © 2010 Movement Disorder Society.</div></front></TEI><affiliations><list><country><li>Japon</li><li>Taïwan</li></country><settlement><li>Tokyo</li></settlement></list><tree><country name="Japon"><noRegion><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name></noRegion><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name><name sortKey="Ogaki, Kotaro" sort="Ogaki, Kotaro" uniqKey="Ogaki K" first="Kotaro" last="Ogaki">Kotaro Ogaki</name><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name><name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name></country><country name="Taïwan"><noRegion><name sortKey="Wu, Ruey Eei" sort="Wu, Ruey Eei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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