University of Oulu

Kujala, U., Palviainen, T., Pesonen, P., Waller, K., Sillanpää, E., Niemelä, M., Kangas, M., Vähä-Ypyä, H., Sievänen, H., Korpelainen, R., Jämsä, T., Männikkö, M., Kaprio, J. (2020) Polygenic Risk Scores and Physical Activity, Medicine & Science in Sports & Exercise: July 2020 - Volume 52 - Issue 7 - p 1518-1524 doi: 10.1249/MSS.0000000000002290

Polygenic risk scores and physical activity

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Author: Kujala, Urho M.1; Palviainen, Teemu2; Pesonen, Paula3;
Organizations: 1Faculty of Sport and Health Sciences, University of Jyväskylä, Jyväskylä, FINLAND
2Institute for Molecular Medicine Finland, Helsinki, FINLAND
3Northern Finland Birth Cohorts, Infrastructure for Population Studies, Faculty of Medicine, University of Oulu, Oulu, FINLAND
4Gerontology Research Center, Faculty of Sport and Health Sciences, University of Jyväskylä, Jyväskylä, FINLAND
5Research Unit of Medical Imaging, Physics and Technology, University of Oulu, Oulu, FINLAND
6The UKK Institute for Health Promotion Research, Tampere, FINLAND
7Medical Research Center, Oulu University Hospital and University of Oulu, Oulu, FINLAND
8Oulu Deaconess Institute Foundation Sr., Department of Sports and Exercise Medicine, Oulu, FINLAND
9Center for Life Course Health Research, University of Oulu, Oulu, FINLAND
10Department of Diagnostic Radiology, Oulu University Hospital, Oulu, FINLAND
11Department of Public Health, University of Helsinki, Helsinki, FINLAND
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 0.3 MB)
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Language: English
Published: Wolters Kluwer, 2020
Publish Date: 2020-09-04


Purpose: Polygenic risk scores (PRS) summarize genome-wide genotype data into a single variable that produces an individual-level risk score for genetic liability. PRS has been used for prediction of chronic diseases and some risk factors. As PRS has been studied less for physical activity (PA), we constructed PRS for PA and studied how much variation in PA can be explained by this PRS in independent population samples.

Methods: We calculated PRS for self-reported and objectively measured PA using UK Biobank genome-wide association study summary statistics, and analyzed how much of the variation in self-reported (MET-hours per day) and measured (steps and moderate-to-vigorous PA minutes per day) PA could be accounted for by the PRS in the Finnish Twin Cohorts (FTC; N = 759–11,528) and the Northern Finland Birth Cohort 1966 (NFBC1966; N = 3263–4061). Objective measurement of PA was done with wrist-worn accelerometer in UK Biobank and NFBC1966 studies, and with hip-worn accelerometer in the FTC.

Results: The PRS accounted from 0.07% to 1.44% of the variation (R2) in the self-reported and objectively measured PA volumes (P value range = 0.023 to <0.0001) in the FTC and NFBC1966. For both self-reported and objectively measured PA, individuals in the highest PRS deciles had significantly (11%–28%) higher PA volumes compared with the lowest PRS deciles (P value range = 0.017 to <0.0001).

Conclusions: PA is a multifactorial phenotype, and the PRS constructed based on UK Biobank results accounted for statistically significant but overall small proportion of the variation in PA in the Finnish cohorts. Using identical methods to assess PA and including less common and rare variants in the construction of PRS may increase the proportion of PA explained by the PRS.

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Series: Medicine & science in sports & exercise
ISSN: 0195-9131
ISSN-E: 1530-0315
ISSN-L: 0195-9131
Volume: 52
Issue: 7
Pages: 1518 - 1524
DOI: 10.1249/MSS.0000000000002290
Type of Publication: A1 Journal article – refereed
Field of Science: 1184 Genetics, developmental biology, physiology
315 Sport and fitness sciences
Funding: Financial support of this work included the Finnish Ministry of Education and Culture (grant OKM/56/626/2013 to U. M. K.), European Regional Development Fund (grant number 539/2010 A31592), Ministry of Education and Culture in Finland (grant numbers OKM/86/626/2014, OKM/43/626/2015, OKM/17/626/2016, OKM/54/626/2019 to R. K. and T. J.). NFBC1966 data collection at 46 y received financial support from the University of Oulu (grant no. 24000692) and Oulu University Hospital (grant no. 24301140). Phenotype and genotype data collection in the twin cohort has been supported by the Wellcome Trust Sanger Institute, the Broad Institute, ENGAGE – European Network for Genetic and Genomic Epidemiology, FP7-HEALTH-F4-2007, grant agreement number 201413, National Institute of Alcohol Abuse and Alcoholism (grants AA-12502, AA-00145, and AA-09203 to R. J. Rose and AA15416 and K02AA018755 to D. M. Dick), and the Academy of Finland (grants 100499, 205585, 118555, 141054, 264146, 308248, and 312073 to J. K.). J. K. has been supported by the Academy of Finland (grants 265240, 263278, 308248, 312073). The funding sources had no roles in the study design, collection, analysis, or interpretations of the data or in the publication process.
Copyright information: © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American College of Sports Medicine. This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.