Polymorphisms in the MAPT gene and risk of Parkinson disease in a Greek population: A case-control study.

The extended tau haplotype (H1) that covers the entire human microtubule-associated protein tau (MAPT) gene has been implicated in Parkinson’s disease (PD). We studied the frequency of H1 haplotype and H1 subhaplotypes of the tau gene in PD in Greek population. As two previous conflicting results were reported, we addressed this question again. We studied 122 PD patients and 123 age matched control subjects. We found significantly higher frequency of H1H1 genotype compared with H1H2 and H2H2 among PD patients (OR for H1H1 vs. H1H2 and H2H2: 1.566; 95% CI, 1.137- 2.157; p = 0.006). Whereas when adjusted for sex, the strong association with H1H1 genotype remained only for males. We further analyzed two single nucleotide polymorphisms frequencies in patients and subjects carrying H1H1 genotype which demonstrated no significant association with PD. In conclusion, these results show that Greek population is consistent with the hypothesis that MAPT alters risk in PD. However, the previously supported association of H1 sub-haplotypes with PD could not be confirmed in our study.