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  • Title: Strong association between Saitohin gene polymorphism and tau haplotype in the Polish population.
    Author: Pepłońska B, Zekanowski C, Religa D, Czyzewski K, Styczyńska M, Pfeffer A, Gabryelewicz T, Gołebiowski M, Luczywek E, Wasiak B, Barczak A, Chodakowska M, Barcikowska M, Kuźnicki J.
    Journal: Neurosci Lett; 2003 Sep 18; 348(3):163-6. PubMed ID: 12932819.
    Abstract:
    The saitohin (STH) gene is located in intron 9 of the tau protein gene. It has been postulated that the R allele of Q7R polymorphism at the Saitohin gene is over-represented in the homozygous state in sporadic Alzheimer's disease (AD). Tau protein was implicated in AD pathophysiology and the tau gene haplotype is probably connected with sporadic late-onset Parkinson's disease (PD). We analyzed the STH polymorphism and tau gene haplotype in 100 clinically diagnosed AD cases, 100 PD cases and 100 age-matched healthy controls. We found that the R allele of the STH gene is associated with the H2 haplotype of tau in all cases. Additionally we observed no correlation between R allele frequency and AD or PD.
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