Role of the H1 haplotype of microtubule-associated protein tau (MAPT) gene in Greek patients with Parkinson's disease
Identifieur interne : 000828 ( Main/Curation ); précédent : 000827; suivant : 000829Role of the H1 haplotype of microtubule-associated protein tau (MAPT) gene in Greek patients with Parkinson's disease
Auteurs : Nikolaos Refenes [Grèce, Allemagne] ; Juliane Bolbrinker [Allemagne] ; Georgios Tagaris [Grèce] ; Antonio Orlacchio [Italie] ; Nikolaos Drakoulis [Grèce] ; Reinhold Kreutz [Allemagne]Source :
- BMC Neurology ; 2009.
Abstract
The extended tau haplotype (H1) that covers the entire human microtubule-associated protein tau (
We analysed
The presence of the H1 haplotype was significantly associated with PD (odds ratio for H1H1 vs. H1H2 and H2H2: 1.566; 95% CI: 1.137–2.157;
Our data support the overall genetic role of
Url:
DOI: 10.1186/1471-2377-9-26
PubMed: 19558713
PubMed Central: 2709887
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000107
- to stream Pmc, to step Curation: Pour aller vers cette notice dans l'étape Curation :000107
- to stream Pmc, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :000177
- to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :000238
- to stream Ncbi, to step Curation: Pour aller vers cette notice dans l'étape Curation :000238
- to stream Ncbi, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :000238
- to stream Main, to step Merge: Pour aller vers cette notice dans l'étape Curation :000837
Links to Exploration step
PMC:2709887Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Role of the H1 haplotype of microtubule-associated protein tau (<italic>MAPT</italic>) gene in Greek patients with Parkinson's disease</title><author><name sortKey="Refenes, Nikolaos" sort="Refenes, Nikolaos" uniqKey="Refenes N" first="Nikolaos" last="Refenes">Nikolaos Refenes</name><affiliation wicri:level="1"><nlm:aff id="I1">School of Pharmacy, Department of Pharmaceutical Technology, National and Kapodistrian University of Athens, Athens, Greece</nlm:aff><country xml:lang="fr">Grèce</country><wicri:regionArea>School of Pharmacy, Department of Pharmaceutical Technology, National and Kapodistrian University of Athens, Athens</wicri:regionArea><wicri:noRegion>Athens</wicri:noRegion></affiliation><affiliation wicri:level="3"><nlm:aff id="I2">Institute of Clinical Pharmacology and Toxicology, Charité – Universitätsmedizin Berlin, Berlin, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Clinical Pharmacology and Toxicology, Charité – Universitätsmedizin Berlin, Berlin</wicri:regionArea><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Bolbrinker, Juliane" sort="Bolbrinker, Juliane" uniqKey="Bolbrinker J" first="Juliane" last="Bolbrinker">Juliane Bolbrinker</name><affiliation wicri:level="3"><nlm:aff id="I2">Institute of Clinical Pharmacology and Toxicology, Charité – Universitätsmedizin Berlin, Berlin, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Clinical Pharmacology and Toxicology, Charité – Universitätsmedizin Berlin, Berlin</wicri:regionArea><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Tagaris, Georgios" sort="Tagaris, Georgios" uniqKey="Tagaris G" first="Georgios" last="Tagaris">Georgios Tagaris</name><affiliation wicri:level="1"><nlm:aff id="I3">Department of Neurology, "G. Gennimatas" General Hospital, Athens, Greece</nlm:aff><country xml:lang="fr">Grèce</country><wicri:regionArea>Department of Neurology, "G. Gennimatas" General Hospital, Athens</wicri:regionArea><wicri:noRegion>Athens</wicri:noRegion></affiliation></author><author><name sortKey="Orlacchio, Antonio" sort="Orlacchio, Antonio" uniqKey="Orlacchio A" first="Antonio" last="Orlacchio">Antonio Orlacchio</name><affiliation wicri:level="3"><nlm:aff id="I4">Laboratory of Neurogenetics, CERC-IRCCS Santa Lucia, Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Laboratory of Neurogenetics, CERC-IRCCS Santa Lucia, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="I5">Department of Neuroscience, University of Rome "Tor Vergata", Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neuroscience, University of Rome "Tor Vergata", Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Drakoulis, Nikolaos" sort="Drakoulis, Nikolaos" uniqKey="Drakoulis N" first="Nikolaos" last="Drakoulis">Nikolaos Drakoulis</name><affiliation wicri:level="1"><nlm:aff id="I1">School of Pharmacy, Department of Pharmaceutical Technology, National and Kapodistrian University of Athens, Athens, Greece</nlm:aff><country xml:lang="fr">Grèce</country><wicri:regionArea>School of Pharmacy, Department of Pharmaceutical Technology, National and Kapodistrian University of Athens, Athens</wicri:regionArea><wicri:noRegion>Athens</wicri:noRegion></affiliation></author><author><name sortKey="Kreutz, Reinhold" sort="Kreutz, Reinhold" uniqKey="Kreutz R" first="Reinhold" last="Kreutz">Reinhold Kreutz</name><affiliation wicri:level="3"><nlm:aff id="I2">Institute of Clinical Pharmacology and Toxicology, Charité – Universitätsmedizin Berlin, Berlin, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Clinical Pharmacology and Toxicology, Charité – Universitätsmedizin Berlin, Berlin</wicri:regionArea><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">19558713</idno><idno type="pmc">2709887</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2709887</idno><idno type="RBID">PMC:2709887</idno><idno type="doi">10.1186/1471-2377-9-26</idno><date when="2009">2009</date><idno type="wicri:Area/Pmc/Corpus">000107</idno><idno type="wicri:Area/Pmc/Curation">000107</idno><idno type="wicri:Area/Pmc/Checkpoint">000177</idno><idno type="wicri:Area/Ncbi/Merge">000238</idno><idno type="wicri:Area/Ncbi/Curation">000238</idno><idno type="wicri:Area/Ncbi/Checkpoint">000238</idno><idno type="wicri:Area/Main/Merge">000837</idno><idno type="wicri:Area/Main/Curation">000828</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Role of the H1 haplotype of microtubule-associated protein tau (<italic>MAPT</italic>) gene in Greek patients with Parkinson's disease</title><author><name sortKey="Refenes, Nikolaos" sort="Refenes, Nikolaos" uniqKey="Refenes N" first="Nikolaos" last="Refenes">Nikolaos Refenes</name><affiliation wicri:level="1"><nlm:aff id="I1">School of Pharmacy, Department of Pharmaceutical Technology, National and Kapodistrian University of Athens, Athens, Greece</nlm:aff><country xml:lang="fr">Grèce</country><wicri:regionArea>School of Pharmacy, Department of Pharmaceutical Technology, National and Kapodistrian University of Athens, Athens</wicri:regionArea><wicri:noRegion>Athens</wicri:noRegion></affiliation><affiliation wicri:level="3"><nlm:aff id="I2">Institute of Clinical Pharmacology and Toxicology, Charité – Universitätsmedizin Berlin, Berlin, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Clinical Pharmacology and Toxicology, Charité – Universitätsmedizin Berlin, Berlin</wicri:regionArea><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Bolbrinker, Juliane" sort="Bolbrinker, Juliane" uniqKey="Bolbrinker J" first="Juliane" last="Bolbrinker">Juliane Bolbrinker</name><affiliation wicri:level="3"><nlm:aff id="I2">Institute of Clinical Pharmacology and Toxicology, Charité – Universitätsmedizin Berlin, Berlin, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Clinical Pharmacology and Toxicology, Charité – Universitätsmedizin Berlin, Berlin</wicri:regionArea><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Tagaris, Georgios" sort="Tagaris, Georgios" uniqKey="Tagaris G" first="Georgios" last="Tagaris">Georgios Tagaris</name><affiliation wicri:level="1"><nlm:aff id="I3">Department of Neurology, "G. Gennimatas" General Hospital, Athens, Greece</nlm:aff><country xml:lang="fr">Grèce</country><wicri:regionArea>Department of Neurology, "G. Gennimatas" General Hospital, Athens</wicri:regionArea><wicri:noRegion>Athens</wicri:noRegion></affiliation></author><author><name sortKey="Orlacchio, Antonio" sort="Orlacchio, Antonio" uniqKey="Orlacchio A" first="Antonio" last="Orlacchio">Antonio Orlacchio</name><affiliation wicri:level="3"><nlm:aff id="I4">Laboratory of Neurogenetics, CERC-IRCCS Santa Lucia, Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Laboratory of Neurogenetics, CERC-IRCCS Santa Lucia, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="I5">Department of Neuroscience, University of Rome "Tor Vergata", Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neuroscience, University of Rome "Tor Vergata", Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Drakoulis, Nikolaos" sort="Drakoulis, Nikolaos" uniqKey="Drakoulis N" first="Nikolaos" last="Drakoulis">Nikolaos Drakoulis</name><affiliation wicri:level="1"><nlm:aff id="I1">School of Pharmacy, Department of Pharmaceutical Technology, National and Kapodistrian University of Athens, Athens, Greece</nlm:aff><country xml:lang="fr">Grèce</country><wicri:regionArea>School of Pharmacy, Department of Pharmaceutical Technology, National and Kapodistrian University of Athens, Athens</wicri:regionArea><wicri:noRegion>Athens</wicri:noRegion></affiliation></author><author><name sortKey="Kreutz, Reinhold" sort="Kreutz, Reinhold" uniqKey="Kreutz R" first="Reinhold" last="Kreutz">Reinhold Kreutz</name><affiliation wicri:level="3"><nlm:aff id="I2">Institute of Clinical Pharmacology and Toxicology, Charité – Universitätsmedizin Berlin, Berlin, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Clinical Pharmacology and Toxicology, Charité – Universitätsmedizin Berlin, Berlin</wicri:regionArea><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author></analytic><series><title level="j">BMC Neurology</title><idno type="e-ISSN">1471-2377</idno><imprint><date when="2009">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Background</title><p>The extended tau haplotype (H1) that covers the entire human microtubule-associated protein tau (<italic>MAPT</italic>) gene has been implicated in Parkinson's disease (PD). Nevertheless, controversial results, such as two studies in Greek populations with opposite effects, have been reported. Therefore, we set out to determine whether the H1 haplotype and additional single nucleotide polymorphisms (SNPs) included in H1 are associated with PD in a sample of Greek patients.</p></sec><sec sec-type="methods"><title>Methods</title><p>We analysed <italic>MAPT </italic>haplotypes in cohorts of 122 patients and 123 controls of Greek origin, respectively. SNP genotyping was performed with Taqman assays and genotyping results were confirmed by sequencing.</p></sec><sec><title>Results</title><p>The presence of the H1 haplotype was significantly associated with PD (odds ratio for H1H1 vs. H1H2 and H2H2: 1.566; 95% CI: 1.137–2.157; <italic>P </italic>= 0.006) and remained so after adjustment for sex. Further analysis of H1 sub-haplotypes with three single nucleotide polymorphisms (rs242562, rs2435207 and rs3785883) demonstrated no significant association with PD.</p></sec><sec><title>Conclusion</title><p>Our data support the overall genetic role of <italic>MAPT </italic>and the H1 haplotype for PD susceptibility in Greek patients. However, the previously supported association of H1 sub-haplotypes with PD could not be confirmed in our study.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct></listBibl></div1></back></TEI></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/JankovicV1/Data/Main/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000828 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Curation/biblio.hfd -nk 000828 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= JankovicV1
|flux= Main
|étape= Curation
|type= RBID
|clé= PMC:2709887
|texte= Role of the H1 haplotype of microtubule-associated protein tau (MAPT) gene in Greek patients with Parkinson's disease
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Curation/RBID.i -Sk "pubmed:19558713" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Curation/biblio.hfd \
| NlmPubMed2Wicri -a JankovicV1
| This area was generated with Dilib version V0.6.19. |  |