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与晚发性阿尔茨海默病相关的基因指纹中存在。

Is Entailed in a Genetic Fingerprint Associated with Late-Onset Alzheimer's Disease.

作者信息

Climer Sharlee

机构信息

Alzheimer's Disease Neuroimaging Initiative (ADNI), University of Missouri-St. Louis, St. Louis, MO 63121, USA.

出版信息

Biomolecules. 2025 Feb 26;15(3):337. doi: 10.3390/biom15030337.

DOI:10.3390/biom15030337
PMID:40149871
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11939865/
Abstract

In a systematic explorative study of genetic patterns on chromosome 19, we discovered a pattern comprising 23 SNP alleles that is significantly associated with late-onset Alzheimer's disease (AD). This association was validated using two independent datasets. The pattern includes (), which has a long and disputatious relationship with AD. It also spans () and () and is upstream from (). We utilized population data to observe the frequencies of this genetic pattern for 11 different ancestries and noted that it is highly common for Europeans and relatively infrequent for Africans. This research provides a distinct genetic signature for AD risk, as well as insights into the complicated relationship between this disease and .

摘要

在一项对19号染色体上基因模式的系统性探索研究中,我们发现了一种由23个单核苷酸多态性(SNP)等位基因组成的模式,该模式与晚发性阿尔茨海默病(AD)显著相关。这种关联在两个独立的数据集中得到了验证。该模式包括(),它与AD有着长期且有争议的关系。它还跨越了()和(),并且位于()的上游。我们利用群体数据观察了这种基因模式在11种不同血统中的频率,发现它在欧洲人中非常常见,而在非洲人中相对较少见。这项研究为AD风险提供了独特的基因特征,也为该疾病与()之间的复杂关系提供了见解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/95f2/11939865/2a6e969cb7bd/biomolecules-15-00337-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/95f2/11939865/2a6e969cb7bd/biomolecules-15-00337-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/95f2/11939865/2a6e969cb7bd/biomolecules-15-00337-g001.jpg

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本文引用的文献

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Nat Commun. 2023 Sep 13;14(1):5635. doi: 10.1038/s41467-023-41122-y.
2
Thimet oligopeptidase as a potential CSF biomarker for Alzheimer's disease: A cross-platform validation study.作为阿尔茨海默病潜在脑脊液生物标志物的硫醇寡肽酶:一项跨平台验证研究。
Alzheimers Dement (Amst). 2023 Jul 26;15(3):e12456. doi: 10.1002/dad2.12456. eCollection 2023 Jul-Sep.
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Entorhinal cortex epigenome-wide association study highlights four novel loci showing differential methylation in Alzheimer's disease.
内嗅皮层表观基因组全基因组关联研究突出了四个新的位点,这些位点在阿尔茨海默病中表现出不同的甲基化。
Alzheimers Res Ther. 2023 May 6;15(1):92. doi: 10.1186/s13195-023-01232-7.
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CSF proteome profiling across the Alzheimer's disease spectrum reflects the multifactorial nature of the disease and identifies specific biomarker panels.在阿尔茨海默病谱中进行脑脊液蛋白质组谱分析反映了疾病的多因素性质,并确定了特定的生物标志物组合。
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