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来自一个7年痴呆症队列研究(VALCODIS)的见解:载脂蛋白E基因型评估。

Insights from a 7-Year Dementia Cohort (VALCODIS): ApoE Genotype Evaluation.

作者信息

Baquero Miguel, Ferré-González Laura, Álvarez-Sánchez Lourdes, Ferrer-Cairols Inés, García-Vallés Lorena, Peretó Mar, Raga Luis, García-Lluch Gemma, Peña-Bautista Carmen, Muria Beatriz, Prieto Aitana, Jareño Inés, Cháfer-Pericás Consuelo

机构信息

Research Group in Alzheimer's Disease, Instituto de Investigación Sanitaria La Fe, Avda. Fernando Abril Martorell, 106, 46026 Valencia, Spain.

Neurology Unit, University and Polytechnic Hospital La Fe, Avda. Fernando Abril Martorell, 106, 46026 Valencia, Spain.

出版信息

J Clin Med. 2024 Aug 12;13(16):4735. doi: 10.3390/jcm13164735.

Abstract

The VALCODIS (Valencian Cognitive Diseases Study) cohort was designed and studied at the Hospital Universitari i Politècnic La Fe (Valencia, Spain) for the research of cognitive diseases, especially in the search for new biomarkers of Alzheimer's disease (AD). Participants in the VALCODIS cohort had cerebrospinal fluid (CSF) and blood samples, neuroimaging, and neuropsychological tests. The ApoE genotype was evaluated to identify its relationship with CSF biomarkers and neuropsychological tests in AD and non-AD participants. A total of 1249 participants were included. They were mainly AD patients ( = 547) but also patients with other dementias (frontotemporal lobar dementia ( = 61), Lewy body dementia without AD CSF signature ( = 10), vascular dementia ( = 24) and other specific causes of cognitive impairment ( = 442), and patients with subjective memory complaints ( = 165)). In the ApoE genotype evaluation, significant differences were found for Aβ42 levels between genotypes in both AD and non-AD patients, as well as a negative correlation between tau values and a cognitive test in non-carriers and ε4 heterozygous. The VALCODIS cohort provides biologically diagnosed patients with demographical, clinical and biochemical data, and biological samples for further studies on early AD diagnosis. Also, the ApoE genotype evaluation showed correlations between CSF biomarkers and neuropsychological tests.

摘要

瓦伦西亚认知疾病研究(VALCODIS)队列是在西班牙巴伦西亚的拉斐尔大学医院和理工大学设计并开展研究的,旨在研究认知疾病,特别是寻找阿尔茨海默病(AD)的新生物标志物。VALCODIS队列的参与者进行了脑脊液(CSF)和血液样本检测、神经影像学检查以及神经心理学测试。对载脂蛋白E(ApoE)基因型进行了评估,以确定其在AD患者和非AD患者中与CSF生物标志物及神经心理学测试之间的关系。总共纳入了1249名参与者。他们主要是AD患者(n = 547),但也包括其他痴呆症患者(额颞叶痴呆(n = 61)、无AD脑脊液特征的路易体痴呆(n = 10)、血管性痴呆(n = 24)以及其他认知障碍的特定病因患者(n = 442)),还有主观记忆障碍患者(n = 165)。在ApoE基因型评估中,发现AD患者和非AD患者中不同基因型之间的β淀粉样蛋白42(Aβ42)水平存在显著差异,并且在非携带者和ε4杂合子中,tau值与一项认知测试之间存在负相关。VALCODIS队列提供了具有人口统计学、临床和生化数据的生物学诊断患者以及用于AD早期诊断进一步研究的生物样本。此外,ApoE基因型评估显示了CSF生物标志物与神经心理学测试之间的相关性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ece9/11355866/6d661abf8b07/jcm-13-04735-g001.jpg

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