Content area

Abstract

Individuals with Alzheimer’s Disease (AD) often experience sleep disturbances. Studies in model organisms have demonstrated ways in which sleep deprivation affects the pathophysiological pathways involved in AD pathogenesis. Studies in elderly and middle-aged individuals have shown that sleep disturbances precede the onset of cognitive impairment and dementia. However, Alzheimer’s disease pathology begins accumulating decades before symptom onset, thus the causal effect of sleep fragmentation (SF) on Alzheimer’s disease is unclear. To address this gap, genetic techniques such as Mendelian Randomization (MR) can be used to suggest causality. This study aims to disambiguate the direction of causal links between SF and AD. A genome-wide association analysis (GWAS) in adults of European ancestry from UK Biobank was conducted to identify genetic instrumental variables of SF. A two-sample MR using an inverse variance weighted approach was conducted. GWAS identified 3 risk loci for SF. MR revealed no significant causal associations in either direction.

Details

1010268
Title
Genome-Wide Association Study Identifies Genetic Loci Involved With Sleep Fragmentation
Number of pages
103
Publication year
2025
Degree date
2025
School code
0779
Source
MAI 87/5(E), Masters Abstracts International
ISBN
9798265436979
Advisor
Committee member
Felsky, Dan; Rabin, Jennifer
University/institution
University of Toronto (Canada)
Department
Medical Science
University location
Canada -- Ontario, CA
Degree
M.Sc.
Source type
Dissertation or Thesis
Language
English
Document type
Dissertation/Thesis
Dissertation/thesis number
32121381
ProQuest document ID
3276223528
Document URL
https://www.proquest.com/dissertations-theses/genome-wide-association-study-identifies-genetic/docview/3276223528/se-2?accountid=208611
Copyright
Database copyright ProQuest LLC; ProQuest does not claim copyright in the individual underlying works.
Database
ProQuest One Academic