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Strong association between Saitohin gene polymorphism and tau haplotype in the Polish population

Strong association between Saitohin gene polymorphism and tau haplotype in the Polish population,10.1016/S0304-3940(03)00788-2,Neuroscience Letters,Be

Strong association between Saitohin gene polymorphism and tau haplotype in the Polish population   (Citations: 15)
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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.
Journal: Neuroscience Letters - NEUROSCI LETT , vol. 348, no. 3, pp. 163-166, 2003
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    • ...So far, studies, [13-26] have mostly observed an increase in the frequency of the H1H1 genotype in patients with PD but they did not always reach levels of statistical significance (for review see Zabetian et al., 2007) [27]...

    Nikolaos Refeneset al. Role of the H1 haplotype of microtubule-associated protein tau (MAPT) ...

    • ...The A224G polymorphism in the STH gene, which causes a glutamine (Q) to arginine (R) substitution at residue 7 (Q7R), is in linkage disequilibrium with the extended tau H1/H2 haplotype [21,22]...
    • ...Nevertheless, these findings remain controversial [22,25-29]...
    • ...This finding was consistent with our regression analysis and the studies by Conrad et al. [23] and Peplonska et al. [22]...
    • ...Moreover, our negative findings are in good agreement with many other studies, which also have much larger sample sizes (e.g., 499 AD cases and 402 controls by Verpillat et al. [25]; 225 AD cases and 144 controls by Streffer et al. [27]; 200 AD cases and 458 controls by Clark et al. [28]; 690 AD families, 903 AD cases and 320 controls by Oliveira et al. [29]; 100 AD cases and 100 controls by Peplonska et al. [22])...
    • ...Additionally, the Q allele frequency (0.867) in controls in the initial study is similar to both controls and cases in our and the other negative studies; but the Q allele frequency (0.676) in AD cases is significantly lower than those in cases and controls in most of the published studies [22,25,27-29]...

    Lingjun Zuoet al. Variation at APOE and STH loci and Alzheimer's disease

    • ...The STH encodes a protein which is expressed and functions together with the tau protein. A nonsynonymous polymorphism (Q7R; CAA to CGA) in this gene has been found to be in complete linkage disequilibrium with the tau haplotype and associated with PD [,...

    Jun Zhanget al. The Tau Gene Haplotype H1 Confers a Susceptibility to Parkinson’s Dise...

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