Abstract

Background: The deposition of tau protein in neurofibrillary tangles constitutes an important feature of many neurodegenerative disorders, including Alzheimer’s disease. A polymorphic gene, saitohin (STH), nested within the tau gene (microtubule associated protein tau, MAPT), was recently identified and an association of a non-synonymous polymorphism in STH with increased risk for Alzheimer’s disease was suggested.

Objective and methods: To test the above hypothesis in a case–control association study of two independent white populations within Switzerland and Greece, comparing genotype and allele frequencies from 225 Alzheimer’s disease patients and 144 healthy control subjects.

Results: No differences in allelic or genotypic distributions between Alzheimer’s disease patients and controls was found in the individual samples (Swiss/Greek) or in the combined sample. Stratification for the presence of apolipoprotein E (APOE) ε4 allele, sex, or age did not show significant effects in the populations studied, nor was there an effect on the age of onset.

Conclusions: No evidence was found for an association of the non-synonymous polymorphism (Q7R) in STH and Alzheimer’s disease. This finding is in line with earlier studies showing no association between MAPT and Alzheimer’s disease.