Role of the H1 haplotype of microtubule-associated protein tau (MAPT) gene in Greek patients with Parkinson's disease
Identifieur interne : 000828 ( Main/Exploration ); 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
Affiliations:
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Le document en format XML
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<author><name sortKey="Orlacchio, Antonio" sort="Orlacchio, Antonio" uniqKey="Orlacchio A" first="Antonio" last="Orlacchio">Antonio Orlacchio</name>
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<author><name sortKey="Kreutz, Reinhold" sort="Kreutz, Reinhold" uniqKey="Kreutz R" first="Reinhold" last="Kreutz">Reinhold Kreutz</name>
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<series><title level="j">BMC Neurology</title>
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<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>
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<tree><country name="Grèce"><noRegion><name sortKey="Refenes, Nikolaos" sort="Refenes, Nikolaos" uniqKey="Refenes N" first="Nikolaos" last="Refenes">Nikolaos Refenes</name>
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<name sortKey="Tagaris, Georgios" sort="Tagaris, Georgios" uniqKey="Tagaris G" first="Georgios" last="Tagaris">Georgios Tagaris</name>
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<country name="Allemagne"><region name="Berlin"><name sortKey="Refenes, Nikolaos" sort="Refenes, Nikolaos" uniqKey="Refenes N" first="Nikolaos" last="Refenes">Nikolaos Refenes</name>
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<name sortKey="Bolbrinker, Juliane" sort="Bolbrinker, Juliane" uniqKey="Bolbrinker J" first="Juliane" last="Bolbrinker">Juliane Bolbrinker</name>
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