Thirty loci identified for heart rate response to exercise and recovery implicate autonomic nervous system

Julia Ramírez, Stefan Van Duijvenboden, Ioanna Ntalla, Borbala Mifsud, Helen R. Warren, Evan Tzanis, Michele Orini, Andrew Tinker, Pier D. Lambiase, Patricia B. Munroe*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

70 Citations (Scopus)

Abstract

Impaired capacity to increase heart rate (HR) during exercise (ΔHRex), and a reduced rate of recovery post-exercise (ΔHRrec) are associated with higher cardiovascular mortality rates. Currently, the genetic basis of both phenotypes remains to be elucidated. We conduct genome-wide association studies (GWASs) for ΔHRex and ΔHRrec in ~40,000 individuals, followed by replication in ~27,000 independent samples, all from UK Biobank. Six and seven single-nucleotide polymorphisms for ΔHRex and ΔHRrec, respectively, formally replicate. In a full data set GWAS, eight further loci for ΔHRex and nine for ΔHRrec are genome-wide significant (P ≤ 5 × 10-8). In total, 30 loci are discovered, 8 being common across traits. Processes of neural development and modulation of adrenergic activity by the autonomic nervous system are enriched in these results. Our findings reinforce current understanding of HR response to exercise and recovery and could guide future studies evaluating its contribution to cardiovascular risk prediction.

Original languageEnglish
Article number1947
JournalNature Communications
Volume9
Issue number1
DOIs
Publication statusPublished - 1 Dec 2018
Externally publishedYes

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