Evidence map›Paper›PMID 38022694›Full record

ArticleComputational and structural biotechnology journal2023

Computational analysis of five neurodegenerative diseases reveals shared and specific genetic loci.

Francesca Maselli, Salvatore D'Antona, Mattia Utichi, Matteo Arnaudi, Isabella Castiglioni, Danilo Porro, Elena Papaleo, Paolo Gandellini, Claudia Cava

Open access · goldAbstract read
In one paragraph

Article in Computational and structural biotechnology journal, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.9field-weighted citation impact, top 24% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 5 institutions in 2 countries.

Francesca MaselliInstitute of Bioimaging and Molecular Physiology, National Research Council, Milan, Italy.
Salvatore D'AntonaInstitute of Bioimaging and Molecular Physiology, National Research Council, Milan, Italy.
Mattia UtichiCancer Systems Biology, Section for Bioinformatics, Department of Health and Technology, Lyngby, Technical University of Denmark.
Matteo ArnaudiCancer Systems Biology, Section for Bioinformatics, Department of Health and Technology, Lyngby, Technical University of Denmark.
Isabella CastiglioniDepartment of Physics ''Giuseppe Occhialini", University of Milan, Bicocca, Italy.
Danilo PorroInstitute of Bioimaging and Molecular Physiology, National Research Council, Milan, Italy.
Elena PapaleoCancer Systems Biology, Section for Bioinformatics, Department of Health and Technology, Lyngby, Technical University of Denmark.
Paolo GandelliniDepartment of Biosciences, University of Milan, Milan, Italy.
Claudia CavaInstitute of Bioimaging and Molecular Physiology, National Research Council, Milan, Italy.
Danish Cancer Society · DKInstitute of Molecular Bioimaging and Physiology · ITUniversity of Milan · ITIstituto Universitario di Studi Superiori di Pavia · ITUniversity of Milano-Bicocca · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Neurodegenerative diseases (ND) are heterogeneous disorders of the central nervous system that share a chronic and selective process of neuronal cell death. A computational approach to investigate shared genetic and specific loci was applied to 5 different ND: Amyotrophic lateral sclerosis (ALS), Alzheimer's disease (AD), Parkinson's disease (PD), Multiple sclerosis (MS), and Lewy body dementia (LBD). The datasets were analyzed separately, and then we compared the obtained results. For this purpose, we applied a genetic correlation analysis to genome-wide association datasets and revealed different genetic correlations with several human traits and diseases. In addition, a clumping analysis was carried out to identify SNPs genetically associated with each disease. We found 27 SNPs in AD, 6 SNPs in ALS, 10 SNPs in PD, 17 SNPs in MS, and 3 SNPs in LBD. Most of them are located in non-coding regions, with the exception of 5 SNPs on which a protein structure and stability prediction was performed to verify their impact on disease. Furthermore, an analysis of the differentially expressed miRNAs of the 5 examined pathologies was performed to reveal regulatory mechanisms that could involve genes associated with selected SNPs. In conclusion, the results obtained constitute an important step toward the discovery of diagnostic biomarkers and a better understanding of the diseases.

Indexed as

BioinformaticsGWASNeurodegenerative diseasesSNPs

Identifiers

PMID38022694
PMCPMC10651457
OpenAlexW4387844357

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.