A1 Journal article (refereed)
Associations of polygenic inheritance of physical activity with aerobic fitness, cardiometabolic risk factors and diseases : the HUNT study (2023)

Tynkkynen, N. P., Törmäkangas, T., Palviainen, T., Hyvärinen, M., Klevjer, M., Joensuu, L., Kujala, U., Kaprio, J., Bye, A., & Sillanpää, E. (2023). Associations of polygenic inheritance of physical activity with aerobic fitness, cardiometabolic risk factors and diseases : the HUNT study. European Journal of Epidemiology, 38, 995-1008. https://doi.org/10.1007/s10654-023-01029-w

JYU authors or editors

Publication details

All authors or editors: Tynkkynen, Niko Paavo; Törmäkangas, Timo; Palviainen, Teemu; Hyvärinen, Matti; Klevjer, Marie; Joensuu, Laura; Kujala, Urho; Kaprio, Jaakko; Bye, Anja; Sillanpää, Elina

Journal or series: European Journal of Epidemiology

ISSN: 0393-2990

eISSN: 1573-7284

Publication year: 2023

Publication date: 21/08/2023

Volume: 38

Pages range: 995-1008

Publisher: Springer

Publication country: Netherlands

Publication language: English

DOI: https://doi.org/10.1007/s10654-023-01029-w

Publication open access: Openly available

Publication channel open access: Partially open access channel

Publication is parallel published (JYX): https://jyx.jyu.fi/handle/123456789/88688

Web address of parallel published publication (pre-print): https://www.medrxiv.org/content/10.1101/2023.03.24.23287686v1

Abstract

Physical activity (PA), aerobic fitness, and cardiometabolic diseases (CMD) are highly heritable multifactorial phenotypes. Shared genetic factors may underlie the associations between higher levels of PA and better aerobic fitness and a lower risk for CMDs. We aimed to study how PA genotype associates with self-reported PA, aerobic fitness, cardiometabolic risk factors and diseases. PA genotype, which combined variation in over one million of gene variants, was composed using the SBayesR polygenic scoring methodology. First, we constructed a polygenic risk score for PA in the Trøndelag Health Study (N = 47,148) using UK Biobank single nucleotide polymorphism-specific weights (N = 400,124). The associations of the PA PRS and continuous variables were analysed using linear regression models and with CMD incidences using Cox proportional hazard models. The results showed that genotypes predisposing to higher amount of PA were associated with greater self-reported PA (Beta [B] = 0.282 MET-h/wk per SD of PRS for PA, 95% confidence interval [CI] = 0.211, 0.354) but not with aerobic fitness. These genotypes were also associated with healthier cardiometabolic profile (waist circumference [B = -0.003 cm, 95% CI = -0.004, -0.002], body mass index [B = -0.002 kg/m2, 95% CI = -0.004, -0.001], high-density lipoprotein cholesterol [B = 0.004 mmol/L, 95% CI = 0.002, 0.006]) and lower incidence of hypertensive diseases (Hazard Ratio [HR] = 0.97, 95% CI = 0.951, 0.990), stroke (HR = 0.94, 95% CI = 0.903, 0.978) and type 2 diabetes (HR = 0.94, 95 % CI = 0.902, 0.970). Observed associations were independent of self-reported PA. These results support earlier findings suggesting small pleiotropic effects between PA and CMDs and provide new evidence about associations of polygenic inheritance of PA and intermediate cardiometabolic risk factors.

Keywords: physical activity; physical fitness; cardiovascular diseases; risk factors; heredity; genetic factors

Free keywords: polygenic risk score; health behaviour; gene-environment interaction; physical activity; common disease

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Ministry reporting: Yes

Reporting Year: 2023

Preliminary JUFO rating: 3