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It is widely recognized that Alzheimer’s disease (AD) is the main cause of dementia in the elderly. AD is typically characterized by the extraneuronal plaque made up essentially of the amyloid β peptide and intraneuronal tangles of hyperphosphorylated microtubule-associated  Tau  protein. This study investigates the possible interaction between AD and the deletion/insertion polymorphism in intron 9 of the  Tau  gene haplotype and  APOE  state in a Tunisian AD cases population (n = 85) and control (n = 91). The H2/H2 genotype was higher in the AD group as compared to the controls (22.4% vs. 7.8%). The frequency of H2 allele is higher in the patients group, and the difference of allele frequency is statistically significant between the two groups (χ2 = 12.220,  p &lt; 0.05 ). H2 allele is correlated with the female gender within the patient group (χ2 = 7.649, p = 0.006)  Tau  H2 haplotype can be identified as a risk factor of AD in the studied Tunisian population and was associated to female gender. There is no significant correlation between the frequency of  Tau  gene ins/del polymorphism and cognitive profile distribution in the patient group (p &gt; 0.05).

Association between H2 haplotype of microtubule associated protein tau gene (deletion / insertion) with Alzheimer Disease in Tunisian patients