Efficient polygenic risk scores for biobank scale data by exploiting phenotypes from inferred relatives

Title
Efficient polygenic risk scores for biobank scale data by exploiting phenotypes from inferred relatives
Publication Date
2020
Author(s)
Truong, Buu
Zhou, Xuan
Shin, Jisu
Li, Jiuyong
Van Der Werf, Julius H J
( author )
OrcID: https://orcid.org/0000-0003-2512-1696
Email: jvanderw@une.edu.au
UNE Id une-id:jvanderw
Le, Thuc D
Lee, S Hong
Type of document
Journal Article
Language
en
Entity Type
Publication
Publisher
Nature Publishing Group
Place of publication
United Kingdom
DOI
10.1038/s41467-020-16829-x
UNE publication id
une:1959.11/51468
Abstract

Polygenic risk scores are emerging as a potentially powerful tool to predict future phenotypes of target individuals, typically using unrelated individuals, thereby devaluing information from relatives. Here, for 50 traits from the UK Biobank data, we show that a design of 5,000 individuals with first-degree relatives of target individuals can achieve a prediction accuracy similar to that of around 220,000 unrelated individuals (mean prediction accuracy = 0.26 vs. 0.24, mean fold-change = 1.06 (95% CI: 0.99-1.13), P-value = 0.08), despite a 44-fold difference in sample size. For lifestyle traits, the prediction accuracy with 5,000 individuals including first-degree relatives of target individuals is significantly higher than that with 220,000 unrelated individuals (mean prediction accuracy = 0.22 vs. 0.16, mean fold-change = 1.40 (1.17-1.62), P-value = 0.025). Our findings suggest that polygenic prediction integrating family information may help to accelerate precision health and clinical intervention.

Link
Citation
Nature Communications, v.11, p. 1-11
ISSN
2041-1723
Pubmed ID
32555176
Start page
1
End page
11
Rights
Attribution 4.0 International

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