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*

*Corresponding author for this work

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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.
Original languageEnglish
JournalComputational and Structural Biotechnology Journal
Volume21
Pages (from-to)5395-5407
ISSN2001-0370
DOIs
Publication statusPublished - 2023

Keywords

  • Bioinformatics
  • GWAS
  • Neurodegenerative diseases
  • SNPs

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