Loading...
Please wait, while we are loading the content...
Similar Documents
Role of the H 1 haplotype of microtubule-associated protein tau ( MAPT ) gene in Greek patients with Parkinson ' s disease
| Content Provider | Semantic Scholar |
|---|---|
| Author | Refenes, Nikolaos Bolbrinker, Juliane Tagaris, Georgios L. Orlacchio, Antonio Drakoulis, Nikolaos Kreutz, Reinhold |
| Copyright Year | 2009 |
| Abstract | Background: The extended tau haplotype (H1) that covers the entire human microtubuleassociated 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 subhaplotypes with PD could not be confirmed in our study. Background Parkinson's disease (PD) is the most common movement disorder that becomes more prevalent with advanced age and represents the second most common neurodegenerative disorder after Alzheimer's disease (AD) [1]. PD is characterized by four cardinal symptoms: resting tremor, bradykinesia, muscle rigidity and postural instability [2]. The degeneration of the nigrostriatal dopaminergic neurons causes symptoms of PD and one of the main neuropathological features of the disease consists of Published: 28 June 2009 BMC Neurology 2009, 9:26 doi:10.1186/1471-2377-9-26 Received: 10 February 2009 Accepted: 28 June 2009 This article is available from: http://www.biomedcentral.com/1471-2377/9/26 © 2009 Refenes et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | http://download-redirector.springer.com/redirect?contentType=pdf&ddsId=art:10.1186/1471-2377-9-26&originUrl=http://bmcneurol.biomedcentral.com/article/10.1186/1471-2377-9-26 |
| Alternate Webpage(s) | https://www.biomedcentral.com/imedia/6022243232545554_manuscript.pdf |
| Language | English |
| Access Restriction | Open |
| Content Type | Text |
| Resource Type | Article |
