How fast the heart beats at rest is substantially heritable, and one of the largest studies of it also found a genetically higher resting rate linked to a shorter life expectancy — a real, if modest, mortality signal, not a diagnosis.
Resting heart rate — how many times the heart beats per minute while at rest — varies substantially between people, and part of that variation is genetic. It is also known to correlate with cardiovascular outcomes, which is what makes the genetics worth mapping.
Eppinga et al. 2016 tested 19.9 million genetic variants in up to 265,046 people, finding 64 genome-wide-significant loci associated with resting heart rate, 46 of them newly discovered. This page holds 49 of those loci.
What makes this finding stronger than an ordinary correlation is the method: rather than simply observing that people with faster resting heart rates tend to die sooner, the study used the genetic variants themselves as an instrument — a Mendelian randomization design that gets closer to a causal estimate than an observational study can. A genetically predicted increase of 5 beats per minute in resting heart rate was associated with a 20% higher risk of death from any cause (hazard ratio 1.20, 95% CI 1.11-1.28). Translated into years, that corresponds to roughly 2.9 fewer years of life expectancy for men and 2.6 fewer years for women.
Among this page's 49 variants, GJA1 appears twice: rs9398652 and rs1320761. GJA1 encodes connexin-43, the gap-junction protein that lets electrical signals pass directly between heart muscle cells — a far more direct mechanistic candidate for a heart-rate trait than most of the other genes on this list, whose exact role the discovery study itself does not spell out. That is a genuine limitation of a large discovery GWAS: it tells you where the statistical signal sits, not always why it is there.
Positions joined since this page was written
What this is The text above discusses the variants this page was written around. Since then the catalogue has joined 1 more position to it, by shared trait or shared paper. They are listed here by the paper each came from; the text does not describe them, and each variant page carries that study's own record.
Ramírez J et al. 2018, Nature communications rs35118522 (CD46) — PMID:29769521
Resting heart rate is measured directly — a pulse check, an ECG, a wearable device — not inferred from genotype. No guideline uses these 49 variants to assess mortality risk or anything else for an individual.
The mortality association described above is a population-level Mendelian randomization estimate from up to 265,046 people, not a way to estimate any one person's own life expectancy. Genetics shifting a population-level average by a measurable amount is a different thing from predicting what will happen to a specific individual, and this page does neither of the latter.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Resting Heart Rate comes down to these specific, well-studied positions — not a diagnosis. 60 positions are linked to this page; the ones this page's own text discusses are shown first.
The studies behind these variants recruited participants from different ancestries — a result found in one population doesn't always transfer to another. Based on 58 of 60 linked studies with a resolved discovery ancestry.
Databases, guidelines and references
Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.
Resting Heart Rate. MyGeneLog™. https://www.mygenelog.com/conditions/resting-heart-rate
Resting heart rate is how many times the heart beats per minute while at rest, and how fast it beats varies substantially between people for reasons that are partly genetic.
The largest study of this found exactly that: a genetically predicted increase of 5 beats per minute was linked to a 20% higher risk of death from any cause, translating to roughly 2.9 fewer years of life for men and 2.6 for women.
No. This is a population-level estimate from up to 265,046 people, not a way to predict what will happen to any one person. Resting heart rate itself is measured directly with a pulse check or an ECG, not inferred from genotype.
GJA1 encodes connexin-43, the gap-junction protein that lets electrical signals pass directly between heart muscle cells — a more direct mechanistic candidate for setting heart rate than most of the genes on this list, whose exact role the discovery study does not spell out.
Free to reuse. This page's text is original writing from freely-available research, licensed CC BY 4.0 — reuse it, including commercially, with attribution to MyGeneLog™. It's general research-derived information, not medical advice or a diagnosis — see Terms of Use.