tau蛋白磷酸酶2A通路中的基因变异与阿尔茨海默病风险无关。
Genetic variation in the tau protein phosphatase-2A pathway is not associated with Alzheimer's disease risk.
作者信息
Vázquez-Higuera José L, Mateo Ignacio, Sánchez-Juan Pascual, Rodríguez-Rodríguez Eloy, Pozueta Ana, Calero Miguel, Dobato José L, Frank-García Ana, Valdivieso Fernando, Berciano José, Bullido Maria J, Combarros Onofre
机构信息
Neurology Service and CIBERNED, "Marqués de Valdecilla" University Hospital (University of Cantabria and IFIMAV), Santander, Spain.
出版信息
BMC Res Notes. 2011 Sep 7;4:327. doi: 10.1186/1756-0500-4-327.
BACKGROUND
Tau abnormal hyperphosphorylation and the formation of neurofibrillary tangles in AD brain is the result of upregulation of tau kinases and downregulation of tau phosphatases.
METHODS
In a group of 729 Spanish late-onset Alzheimer's disease (AD) patients and 670 healthy controls, we examined variations into a set of candidate genes (PPP2CA, PPP2R2A, ANP32A, LCMT1, PPME1 and PIN1) in the tau protein phosphatase-2A (PP2A) pathway, to address hypotheses of genetic variation that might influence AD risk.
RESULTS
There were no differences in the genotypic, allelic or haplotypic distributions between cases and controls in the overall analysis or after stratification by age, gender or APOE ε4 allele.
CONCLUSION
Our negative findings in the Spanish population argue against the hypothesis that genetic variation in the tau protein phosphatase-2A (PP2A) pathway is causally related to AD risk.
背景
阿尔茨海默病（AD）大脑中tau蛋白异常过度磷酸化及神经原纤维缠结的形成是tau激酶上调和tau磷酸酶下调的结果。
方法
在一组729名西班牙晚发性阿尔茨海默病（AD）患者和670名健康对照中，我们检测了tau蛋白磷酸酶-2A（PP2A）途径中一组候选基因（PPP2CA、PPP2R2A、ANP32A、LCMT1、PPME1和PIN1）的变异情况，以探讨可能影响AD风险的基因变异假说。
结果
在总体分析中，以及按年龄、性别或APOE ε4等位基因分层后，病例组和对照组在基因型、等位基因或单倍型分布上均无差异。
结论
我们在西班牙人群中的阴性结果与tau蛋白磷酸酶-2A（PP2A）途径中的基因变异与AD风险存在因果关系这一假说相悖。
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