Abstract
BackgroundThe 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.MethodsWe 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.ResultsThe 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.ConclusionOur 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.
Highlights
The extended tau haplotype (H1) that covers the entire human microtubuleassociated protein tau (MAPT) gene has been implicated in Parkinson's disease (PD)
We aimed to provide more data on MAPT variants with a potential functional role on the regulation of MAPT in tauopathies, since increased expression of H1 haplotype has been suggested as a mechanism of PD susceptibility [20]
The observed frequencies do not deviate from those predicted by Hardy-Weinberg equilibrium (Table 2) and were comparable to those previously reported in Caucasians [28]
Summary
The extended tau haplotype (H1) that covers the entire human microtubuleassociated protein tau (MAPT) gene has been implicated in Parkinson's disease (PD). Controversial results, such as two studies in Greek populations with opposite effects, have been reported. Tau proteins are a group of phosphorylated neuronal microtubule-associated proteins that bind to microtubules and promote microtubule assembly and stabilization. Due to the proposed interactions of α-synuclein and tau protein and their abnormal intracellular aggregation in neurodegenerative diseases,[5,6] the analysis of microtubule-associated protein tau (MAPT) gene as a genetic susceptibility factor for PD has been of interest
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