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Evaluating the Impact of Physiological Variability in Genome-Wide Association Studies of Resting Heart Rate

Van Duijvenboden, S; Ramírez, J; Young, WJ; Tinker, A; Munroe, PB; Lambiase, PD; Orini, M; (2020) Evaluating the Impact of Physiological Variability in Genome-Wide Association Studies of Resting Heart Rate. In: Proceedings of 2020 Computing in Cardiology (CinC 2020). Computing in Cardiology (CinC): Rimini, Italy. Green open access

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Abstract

Genome-wide association studies (GWAS) have discovered hundreds of genetic loci for resting heart rate (RHR). However, the impact of intra-individual variation in RHR on GWAS results is unclear. We evaluated this impact by analyzing two RHR recordings from N ~61,000 subjects from UK Biobank. In addition, we modelled variations in RHR as independent white zero-mean Gaussian noise with a standard deviation of 0.5x, 1x, and 2x the standard deviation of the difference between the original RHR values (4, 8, and 16 bpm, respectively). The two original RHR recordings were highly correlated (ρ=0.77), but results from the genetic analyses were slightly different: the number of genome-wide significant (p < 5x10-8 ) variants at the locus with the strongest reported association (MYH6): n=39 vs. n=34; the pvalue of the corresponding lead-variant, 3.6x10-24 vs. 2.1x10-19; and the estimated heritability 20.0% vs. 16.7%. Simulated data showed an inverse relationship between RHR variation and genetic association strength and heritability. Results formally demonstrate the impact of intra-individual RHR variability on the discovery of genetic variants in single-measurement studies.

Type: Proceedings paper
Title: Evaluating the Impact of Physiological Variability in Genome-Wide Association Studies of Resting Heart Rate
Event: 2020 Computing in Cardiology (CinC 2020)
Open access status: An open access version is available from UCL Discovery
DOI: 10.22489/CinC.2020.483
Publisher version: https://doi.org/10.22489/CinC.2020.483
Language: English
Additional information: This is an Open Access paper published under a Creative Commons Attribution 4.0 International (CC BY 4.0) Licence (https://creativecommons.org/licenses/by/4.0/).
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science > Clinical Science
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science > Population Science and Experimental Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science > Population Science and Experimental Medicine > MRC Unit for Lifelong Hlth and Ageing
URI: https://discovery.ucl.ac.uk/id/eprint/10123266
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