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Open Access Research article

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

Nikolaos Refenes12*, Juliane Bolbrinker2, Georgios Tagaris3, Antonio Orlacchio45, Nikolaos Drakoulis1 and Reinhold Kreutz2

Author Affiliations

1 School of Pharmacy, Department of Pharmaceutical Technology, National and Kapodistrian University of Athens, Athens, Greece

2 Institute of Clinical Pharmacology and Toxicology, Charité – Universitätsmedizin Berlin, Berlin, Germany

3 Department of Neurology, "G. Gennimatas" General Hospital, Athens, Greece

4 Laboratory of Neurogenetics, CERC-IRCCS Santa Lucia, Rome, Italy

5 Department of Neuroscience, University of Rome "Tor Vergata", Rome, Italy

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BMC Neurology 2009, 9:26  doi:10.1186/1471-2377-9-26

Published: 28 June 2009

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.