Affordable Access

deepdyve-link
Publisher Website

Polygenic risk and pleiotropy in neurodegenerative diseases

Authors
  • Bellou, Eftychia
  • Stevenson-Hoare, Joshua
  • Escott-Price, Valentina
Type
Published Article
Journal
Neurobiology of Disease
Publisher
Elsevier
Publication Date
Aug 01, 2020
Volume
142
Identifiers
DOI: 10.1016/j.nbd.2020.104953
PMID: 32445791
PMCID: PMC7378564
Source
PubMed Central
Keywords
License
Unknown

Abstract

In this paper we explore the phenomenon of pleiotropy in neurodegenerative diseases, focusing on Alzheimer's disease (AD). We summarize the various techniques developed to investigate pleiotropy among traits, elaborating in the polygenic risk scores (PRS) analysis. PRS was designed to assess a cumulative effect of a large number of SNPs for association with a disease and, later for disease risk prediction. Since genetic predictions rely on heritability, we discuss SNP-based heritability from genome-wide association studies and its contribution to the prediction accuracy of PRS. We review work examining pleiotropy in neurodegenerative diseases and related phenotypes and biomarkers. We conclude that the exploitation of pleiotropy may aid in the identification of novel genes and provide further insights in the disease mechanisms, and along with PRS analysis, may be advantageous for precision medicine.

Report this publication

Statistics

Seen <100 times