通过条件选择推断新发现的阿尔茨海默病的遗传关联:对Tau假说的潜在影响。

IF 2.4 Q3 BIOCHEMICAL RESEARCH METHODS
Bioinformatics and Biology Insights Pub Date : 2025-08-17 eCollection Date: 2025-01-01 DOI:10.1177/11779322251358309
Scott Hebert, Eric Nels Pederson, Zhengqing Ouyang
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引用次数: 0

摘要

到2020年,估计有600多万人患有阿尔茨海默病(AD),另有1200万人患有轻度认知障碍(MCI)。已经进行了一些研究来评估与AD的遗传联系,但需要更多的研究来提高疾病的早期检测和改善患者的预后。诊断、人口统计信息和单核苷酸多态性(SNP)数据由阿尔茨海默病神经影像学倡议(ADNI)收集。我们使用LASSO回归和条件选择推理对snp和其他预测因子(包括教育、种族和婚姻状况)进行特征选择,将snp的数量从55106个减少到13个,并去除除教育年限和婚姻状况外的所有非snp预测因子。所包括的snp存在于具有临床意义的基因中,可能与影响认知表现的疾病有关。结果表明,7个snp的替代等位基因与AD/MCI诊断风险增加相关,而6个snp与诊断风险降低相关。这一结果指出了PAK5基因与Tau蛋白假说之间的一种新的潜在疾病通路,这一假说得到了以往研究的支持。本研究可能具有临床意义,值得进一步研究。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Newly Identified Genetic Associations of Alzheimer Disease by Conditional Selective Inference: Potential Implications for the Tau Hypothesis.

Newly Identified Genetic Associations of Alzheimer Disease by Conditional Selective Inference: Potential Implications for the Tau Hypothesis.

Newly Identified Genetic Associations of Alzheimer Disease by Conditional Selective Inference: Potential Implications for the Tau Hypothesis.

Newly Identified Genetic Associations of Alzheimer Disease by Conditional Selective Inference: Potential Implications for the Tau Hypothesis.

Over 6 million people are estimated to have been living with Alzheimer disease (AD) in 2020, with another 12 million living with Mild Cognitive Impairment (MCI). Research has been conducted to evaluate genetic links to AD, but more research is needed to improve early disease detection and improve patient outcomes. Diagnostic, demographic information, and single nucleotide polymorphism (SNP) data were collected by the Alzheimer's Disease Neuroimaging Initiative (ADNI). We performed LASSO regression with conditional selective inference to perform feature selection on the SNPs and other predictors (which included education, race, and marital status), which reduced the number of SNPs from 55 106 to 13 and removed all non-SNP predictors except years of education and marital status. The included SNPs reside in genes that have clinical significance and may be associated with diseases that affect cognitive performance. The results propose the alternative alleles for 7 SNPs are associated with increased risk of AD/MCI diagnosis, while 6 SNPs are associated with decreased risk of diagnosis. The results point to a new potential pathway of disease regarding the PAK5 gene and the Tau protein hypothesis, which is supported by previous research. This research may have clinical implications and should be further studied.

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来源期刊
Bioinformatics and Biology Insights
Bioinformatics and Biology Insights BIOCHEMICAL RESEARCH METHODS-
CiteScore
6.80
自引率
1.70%
发文量
36
审稿时长
8 weeks
期刊介绍: Bioinformatics and Biology Insights is an open access, peer-reviewed journal that considers articles on bioinformatics methods and their applications which must pertain to biological insights. All papers should be easily amenable to biologists and as such help bridge the gap between theories and applications.
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