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Polygenic risk and pleiotropy in neurodegenerative diseases

Bellou, Eftychia, Stevenson-Hoare, Joshua and Escott-Price, Valentina ORCID: 2020. Polygenic risk and pleiotropy in neurodegenerative diseases. Neurobiology of Disease 142 , 104953. 10.1016/j.nbd.2020.104953

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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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Publisher: Elsevier
ISSN: 0969-9961
Funders: MRC
Date of First Compliant Deposit: 21 May 2020
Date of Acceptance: 18 May 2020
Last Modified: 05 May 2023 12:38

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