Major Quantitative Trait Locus for Resting Heart Rate Maps to a Region on Chromosome 4

Lisa J. Martin, Anthony G. Comuzzie, Gabriele E. Sonnenberg, Joel Myklebust, Roland James, Jacqueline Marks, John Blangero, Ahmed H. Kissebah

Research output: Contribution to journalArticlepeer-review

36 Scopus citations


Multiple studies have identified resting heart rate as a risk factor for cardiovascular disease independent of other cardiovascular disease risk factors (such as dyslipidemia and hypertension). Previous studies have examined heart rate in hypertensive individuals, but little is known about the genetic determination of resting heart rate in a normal population. Therefore, our objective was to perform a genome screen on a population containing normotensive and hypertensive individuals. We performed variance decomposition linkage analysis using maximum likelihood methods at ≈10 cM intervals in 2209 individuals of predominantly North European ancestry. We estimated the heritability of resting heart rate to be 26% and obtained significant evidence of linkage (logarithm of the odds [LOD]= 3.9) for resting heart rate on chromosome 4q. This signal is in the same region as a quantitative trait locus (QTL) for long QT syndrome 4 and a QTL for heart rate in rats. Within the 1-LOD unit support interval, there are 2 strong candidates: ankyrin-B and myozenin 2.

Original languageEnglish (US)
Pages (from-to)1146-1151
Number of pages6
Issue number5
StatePublished - May 2004
Externally publishedYes


  • Cardiovascular diseases
  • Genetics
  • Human
  • Pulse

ASJC Scopus subject areas

  • Internal Medicine


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