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首页> 外文期刊>American journal of medical genetics, Part B. Neuropsychiatric genetics: the official publication of the International Society of Psychiatric Genetics >Tau phosphorylation pathway genes and cerebrospinal fluid tau levels in Alzheimer's disease
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Tau phosphorylation pathway genes and cerebrospinal fluid tau levels in Alzheimer's disease

机译：阿尔茨海默氏病中Tau磷酸化途径基因和脑脊液tau水平

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摘要

Alzheimer's disease (AD) is characterized by the presence in the brain of amyloid plaques, consisting predominately of the amyloid β peptide (Aβ), and neurofibrillary tangles, consisting primarily of tau. Hyper-phosphorylated-tau (p-tau) contributes to neuronal damage, and both p-tau and total-tau (t-tau) levels are elevated in AD cerebrospinal fluid (CSF) compared to cognitively normal controls. Our hypothesis was that increased ratios of CSF phosphorylated-tau levels relative to total-tau levels correlate with regulatory region genetic variation of kinase or phosphatase genes biologically associated with the phosphorylation status of tau. Eighteen SNPs located within 5′ and 3′ regions of 5 kinase and 4 phosphatase genes, as well as two SNPs within regulatory regions of the MAPT gene were chosen for this analysis. The study sample consisted of 101 AD patients and 169 cognitively normal controls. Rs7768046 in the FYN kinase gene and rs913275 in the PPP2R4 phosphatase gene were both associated with CSF p-tau and t-tau levels in AD. These SNPs were also differentially associated with either CSF t-tau (rs7768046) or CSF p-tau (rs913275) relative to t-tau levels in AD compared to controls. These results suggest that rs7768046 and rs913275 both influence CSF tau levels in an AD-associated manner.
机译：阿尔茨海默氏病（AD）的特征是在大脑中存在主要由淀粉样β肽（Aβ）组成的淀粉样斑块和主要由tau组成的神经原纤维缠结。与认知正常对照相比，AD脑脊液（CSF）中的高磷酸化tau（p-tau）有助于神经元损伤，并且p-tau和总tau（t-tau）水平均升高。我们的假设是，CSF磷酸化tau水平相对于总tau水平的比率增加与与tau磷酸化状态生物学相关的激酶或磷酸酶基因的调控区域遗传变异有关。选择了位于5个激酶和4个磷酸酶基因的5'和3'区域内的18个SNP，以及MAPT基因的调控区域内的两个SNP用于此分析。该研究样本包括101名AD患者和169名认知正常对照。 FYN激酶基因中的Rs7768046和PPP2R4磷酸酶基因中的rs913275均与AD中的CSF p-tau和t-tau水平相关。相对于AD中的t-tau水平，这些SNPs还与CSF的t-tau（rs7768046）或CSF的p-tau（rs913275）存在差异。这些结果表明，rs7768046和rs913275都以AD相关的方式影响CSF tau水平。

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