Exp Mol Med.  2008 Oct;40(5):558-564. 10.3858/emm.2008.40.5.558.

Heritability and linkage study on heart rates in a Mongolian population

  • 1Department of Public Health, The Graduate School, Yonsei University, Seoul, Korea.
  • 2Department of Biochemistry and Molecular Biology, Seoul National University College of Medicine, Korea. jeongsun@snu.ac.kr
  • 3ILCHUN Genomic Medicine Institute Medical Research Center, Seoul National University, Korea.
  • 4Department of Epidemiology, School of Public Health and Institute for Health and Environment, Seoul National University, Korea.
  • 5PSOMA therapeutics Inc, Seoul, Korea.
  • 6Department of Preventive Medicine and Public Health, Yonsei University College of Medicine, Seoul, Korea.
  • 7State Research Center on Maternal and Child Health, Ulaanbaatar, Mongolia.


Elevated heart rate has been proposed as an independent risk factor for cardiovascular diseases, but their interrelationships are not well understood. In this study, we performed a genome-wide linkage scan in 1,026 individuals (mean age 30.6 years, 54.5% women) from 73 extended families of Mongolia and determined quantitative trait loci that influence heart rate. The DNA samples were genotyped using deCODE 1,039 microsatellite markers for 3 cM density genome-wide linkage scan. Correlation analysis was carried out to evaluate the correlation of the covariates and the heart rate. T-tests of the heart rate were also performed on sex, smoking and alcohol intake. Consequently, this model was used in a nonparametric genome-wide linkage analysis using variance component model to create a multipoint logarithm of odds (LOD) score and a corresponding P value. In the adjusted model, the heritability of heart rate was estimated as 0.32 (P<.0001) and a maximum multipoint LOD score of 2.03 was observed in 77 cM region at chromosome 18. The second largest LOD score of 1.52 was seen on chromosome 5 at 216 cM. Genes located on the specified locations in chromosomes 5 and 18 may be involved in the regulation of heart rate.


cardiovascular diseases; chromosome mapping; genomics; heart rate; Mongolia

MeSH Terms

Chromosome Mapping/*methods
Genetics, Population
Genome, Human/*genetics
Genome-Wide Association Study/methods
*Heart Rate
Linkage (Genetics)
Middle Aged
Quantitative Trait Loci/*genetics
Young Adult
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