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BMC Neurology
Published in: BMC Neurology 1/2009

Open Access 01-12-2009 | Research article

Role of the H1 haplotype of microtubule-associated protein tau (MAPT) gene in Greek patients with Parkinson's disease

Authors: Nikolaos Refenes, Juliane Bolbrinker, Georgios Tagaris, Antonio Orlacchio, Nikolaos Drakoulis, Reinhold Kreutz

Published in: BMC Neurology | Issue 1/2009

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Abstract

Background

The extended tau haplotype (H1) that covers the entire human microtubule-associated protein tau (MAPT) 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.

Methods

We analysed MAPT 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.

Results

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; P = 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.

Conclusion

Our data support the overall genetic role of MAPT 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.
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Metadata
Title
Role of the H1 haplotype of microtubule-associated protein tau (MAPT) gene in Greek patients with Parkinson's disease
Authors
Nikolaos Refenes
Juliane Bolbrinker
Georgios Tagaris
Antonio Orlacchio
Nikolaos Drakoulis
Reinhold Kreutz
Publication date
01-12-2009
Publisher
BioMed Central
Published in
BMC Neurology / Issue 1/2009
Electronic ISSN: 1471-2377
DOI
https://doi.org/10.1186/1471-2377-9-26

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