ArticleScientific reports2020
A telescope GWAS analysis strategy, based on SNPs-genes-pathways ensamble and on multivariate algorithms, to characterize late onset Alzheimer's disease.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 20 citations in OpenAlex.
- The Genetics of Amyloid Deposition: A Systematic Review of Genome-Wide Association Studies Using Amyloid PET Imaging in Alzheimer's Disease.Journal of imaging · 2025Review
- Pleiotropic Effects ofBiomolecules · 2025Review
- GRM7 deficiency, from excitotoxicity and neuroinflammation to neurodegeneration: Systematic review of GRM7 deficient patients.Brain, behavior, & immunity - health · 2024Review
- A genome-wide association study reveals a polygenic architecture of speech-in-noise deficits in individuals with self-reported normal hearing.Scientific reports · 2024Article
- c-Diadem: a constrained dual-input deep learning model to identify novel biomarkers in Alzheimer's disease.BMC medical genomics · 2023Article
- Improving genetic risk prediction across diverse population by disentangling ancestry representations.Communications biology · 2023Article
- A global view of the genetic basis of Alzheimer disease.Nature reviews. Neurology · 2023Review
- Wide and deep learning based approaches for classification of Alzheimer's disease using genome-wide association studies.PloS one · 2023Article
- Apolipoprotein A1, the neglected relative of Apolipoprotein E and its potential role in Alzheimer's disease.Neural regeneration research · 2021Review
- Genome-wide association analysis of cognitive function in Danish long-lived individuals.Mechanisms of ageing and development · 2021Article
- Reassessment of Pioglitazone for Alzheimer's Disease.Frontiers in neuroscience · 2021Review
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Authors and funding
7 authors at 20 institutions in 5 countries.
Funding
Abstract
Genome-wide association studies (GWAS) have revealed a plethora of putative susceptibility genes for Alzheimer's disease (AD), with the sole exception of APOE gene unequivocally validated in independent study. Considering that the etiology of complex diseases like AD could depend on functional multiple genes interaction network, here we proposed an alternative GWAS analysis strategy based on (i) multivariate methods and on a (ii) telescope approach, in order to guarantee the identification of correlated variables, and reveal their connections at three biological connected levels. Specifically as multivariate methods, we employed two machine learning algorithms and a genetic association test and we considered SNPs, Genes and Pathways features in the analysis of two public GWAS dataset (ADNI-1 and ADNI-2). For each dataset and for each feature we addressed two binary classifications tasks: cases vs. controls and the low vs. high risk of developing AD considering the allelic status of APOEe4. This complex strategy allowed the identification of SNPs, genes and pathways lists statistically robust and meaningful from the biological viewpoint. Among the results, we confirm the involvement of TOMM40 gene in AD and we propose GRM7 as a novel gene significantly associated with AD.
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