非痴呆老年人 CSF tau 纵向变化的全基因组关联研究。

IF 1.5 4区医学 Q2 MEDICINE, GENERAL & INTERNAL

Bratislava Medical Journal-Bratislavske Lekarske Listy Pub Date : 2024-01-01 DOI:10.4149/BLL_2024_99

Yingbei Liu, Na Zhang, Shulei Liu, Xiaoling Zhong, Ling Wang

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引用次数: 0

摘要

研究方法这项研究对阿尔茨海默病神经影像学倡议（ADNI）队列中319名非西班牙裔白种人的纵向CSF t-tau和基因型数据进行了全基因组关联研究（GWAS）。研究的目的是确定影响CSF t-tau变化率的遗传决定因素：GWAS发现了C9orf171 (CFAP77)基因区域内一个重要的单核苷酸多态性（SNP）rs17149074，它与CSF t-tau随时间的变化有显著关联。此外，研究还发现其他五个 SNPs-rs10916844、rs10916846、rs9425869、rs3744474 和 rs8078303 有可能影响 CSF t-tau 的变化：这些发现不仅加深了我们对t-tau在AD中的进展的理解，而且还表明这些确定的SNPs可作为新型遗传生物标记物，通过完善CSF-tau测量的预测价值，为AD的预后提供新的见解（表2，图2，参考文献31）。Text in PDF www.elis.sk Keywords: cerebrospinal fluid, t-tau, genome-wide association study, single nucleotide polymorphism, genetic factors.

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A genome-wide association study of longitudinal change in CSF tau among non-demented elderly.

Methods: This study conducted a genome-wide association study (GWAS) on longitudinal CSF t-tau and genotype data from 319 non-Hispanic Caucasians within the Alzheimer's Disease Neuroimaging Initiative (ADNI) cohort. The aim was to identify genetic determinants influencing the rate of change in CSF t-tau, a key biomarker in AD.

Results: The GWAS identified a significant single nucleotide polymorphism (SNP), rs17149074, within the C9orf171 (CFAP77) gene region that showed significant association with changes in CSF t-tau over time. Additionally, five other SNPs-rs10916844, rs10916846, rs9425869, rs3744474, and rs8078303-were found to potentially influence CSF t-tau variability.

Conclusions: These findings not only enhance our understanding of t-tau's progression in AD but also suggest that these identified SNPs could serve as novel genetic biomarkers, potentially providing novel insights in the prognostic landscape of AD by refining the predictive value of CSF-tau measurements (Tab. 2, Fig. 2, Ref. 31). Text in PDF www.elis.sk Keywords: cerebrospinal fluid, t-tau, genome-wide association study, single nucleotide polymorphism, genetic factors.

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来源期刊

Bratislava Medical Journal-Bratislavske Lekarske Listy 医学-医学：内科

CiteScore

2.60

自引率

0.00%

发文量

185

审稿时长

3-8 weeks

期刊介绍： The international biomedical journal - Bratislava Medical Journal – Bratislavske lekarske listy (Bratisl Lek Listy/Bratisl Med J) publishes peer-reviewed articles on all aspects of biomedical sciences, including experimental investigations with clear clinical relevance, original clinical studies and review articles.