Genome-Wide Gene-Set Analysis Approaches in Amyotrophic Lateral Sclerosis

Christina Vasilopoulou, Stephanie Duguez, William Duddy, Tadashi Kaname (Editor)

Research output: Contribution to journalReview articlepeer-review

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The rapid increase in the number of genetic variants identified to be associated with Amyotrophic Lateral Sclerosis (ALS) through genome-wide association studies (GWAS) has created an emerging need to understand the functional pathways that are implicated in the pathology of ALS. Gene-set analysis (GSA) is a powerful method that can provide insight into the associated biological pathways, determining the joint effect of multiple genetic markers. The main contribution of this review is the collection of ALS GSA studies that employ GWAS or individual-based genotype data, investigating their methodology and results related to ALS-associated molecular pathways. Furthermore, the limitations in standard single-gene analyses are summarized, highlighting the power of gene-set analysis, and a brief overview of the statistical properties of gene-set analysis and related concepts is provided. The main aims of this review are to investigate the reproducibility of the collected studies and identify their strengths and limitations, in order to enhance the experimental design and therefore the quality of the results of future studies, deepening our understanding of this devastating disease.
Original languageEnglish
Article number1932
Number of pages17
JournalJournal of Personalized Medicine
Issue number11
Early online date20 Nov 2022
Publication statusPublished online - 20 Nov 2022

Bibliographical note

Funding: This work was financed by the European Union Regional Development Fund (ERDF) EU Sustainable Competitiveness Programme for N. Ireland, Northern Ireland Public Health Agency (HSC R&D) & Ulster University. C.V. was the recipient of a DfE international scholarship from Ulster University


  • amyotrophic lateral sclerosis
  • genome-wide association studies
  • ALS pathology
  • gene-set analysis
  • functional genomics
  • Genome-wide Association Studies
  • Gene-set Analysis
  • Amyotrophic Lateral Sclerosis
  • Als Pathology
  • Functional genomics


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