Several studies have suggested an association between polymorphisms and an extended haplotype of the microtubule associated protein tau gene and Alzheimer's disease (AD) in synergy with apolipoprotein E (APOE) ε4 status. However these findings have not been consistently replicated. We investigated the role of the tau haplotype in AD by conducting an association study as well as a meta-analysis of all the studies conducted to date. We examined six polymorphisms known to be in the extended tau haplotypes, one in exon 7 and five in and around exon 9 in 200 late onset AD and 189 control samples. All the polymorphisms examined fell into the recognised tau haplotypes. There was no statistical significant association with any of the polymorphisms and late onset AD. Stratification of data by APOE ε4 status also produced no strongly significant association. The meta-analysis showed no significant differences between AD cases and controls, however stratification of data by APOE ε4 status showed a small significant decrease in the H1 haplotype in AD before correction for multiple testing.

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Neuroscience Letters
Department of Biostatistics

Russ, C., Powell, J., Zhao, J. H., Baker, M., Hutton, M., Crawford, F., … Lovestone, S. (2001). The microtubule associated protein tau gene and Alzheimer's disease - An association study and meta-analysis. Neuroscience Letters, 314(1-2), 92–96. doi:10.1016/S0304-3940(01)02289-3