Genetic variability in molecular pathways implicated in Alzheimer's disease : a comprehensive review

Vogrinc, David (author), Goričar, Katja (author), Dolžan, Vita (author)

Alzheimer's disease (AD) is a complex neurodegenerative disease, affecting a significant part of the population. The majority of AD cases occur in the elderly with a typical age of onset of the disease above 65 years. AD presents a major burden for the healthcare system and since population is rapidly aging, the burden of the disease will increase in the future. However, no effective drug treatment for a full-blown disease has been developed to date. The genetic background of AD is extensively studied; numerous genome-wide association studies (GWAS) identified significant genes associated with increased risk of AD development. This review summarizes more than 100 risk loci. Many of them may serve as biomarkers of AD progression, even in the preclinical stage of the disease. Furthermore, we used GWAS data to identify key pathways of AD pathogenesis: cellular processes, metabolic processes, biological regulation, localization, transport, regulation of cellular processes, and neurological system processes. Gene clustering into molecular pathways can provide background for identification of novel molecular targets and may support the development of tailored and personalized treatment of AD.

• Language: English
• Keywords: Alzheimer's disease, genetic risk factors, pathogenesis, genetics, biomarker, molecular pathways, gene ontology
• Work type: Article
• Typology: 1.02 - Review Article
• Organization: MF - Faculty of Medicine
• Publication status: Published
• Publication version: Version of Record
• Year: 2021
• Number of pages: 30 str.
• Numbering: Vol. 13, art. 646901
• PID: 20.500.12556/RUL-144670
• UDC: 616.8
• ISSN on article: 1663-4365
• DOI: 10.3389/fnagi.2021.646901
• COBISS.SI-ID: 57793283
• Publication date in RUL: 07.03.2023

Record is a part of a journal

• Title: Frontiers in aging neuroscience
• Shortened title: Front. aging neurosci.
• Publisher: Frontiers Media
• ISSN: 1663-4365
• COBISS.SI-ID: 20576008

Licences

• License: CC BY 4.0, Creative Commons Attribution 4.0 International
• Link: http://creativecommons.org/licenses/by/4.0/
• Description: This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.

Secondary language

• Language: Slovenian
• Keywords: Alzheimerjeva bolezen, genetski dejavniki tveganja, patogeneza

Projects

• Funder: ARRS - Slovenian Research Agency
• Project number: P1-0170
• Name: Molekulski mehanizmi uravnavanja celičnih procesov v povezavi z nekaterimi boleznimi pri človeku

• Funder: EC - European Commission
• Funding programme: H2020
• Project number: 951851
• Name: Chair of Neuroinformatics
• Acronym: CONI