Evidence for a gene influencing heart rate on chromosome 5p13-14 in a meta-analysis of genome-wide scans from the NHLBI Family Blood Pressure Program

Laramie, Jason M.; Wilk, Jemma B.; Hunt, Steven C.; Ellison, R. Curtis; Chakravarti, Aravinda; Boerwinkle, Eric; Myers, Richard H.

doi:10.1186/1471-2350-7-17

Cited by 11 publications

(7 citation statements)

References 44 publications

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“…Heart rate, often more accurately measured as the length in milliseconds of the RR interval (heart rate = 60,000/RR), is a well known risk factor for morbidity in cardiovascular disease1,2 and all-cause mortality 3. Heritability, linkage, and association studies have suggested that RR interval is modified by common genetic variations4,5 but no RR modifier variants have yet been consistently confirmed.…”

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confidence: 99%

A Genome-Wide Association Scan of RR and QT Interval Duration in 3 European Genetically Isolated Populations

Marroni

Pfeufer

Aulchenko

et al. 2009

Circ Cardiovasc Genet

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on behalf of the EUROSPAN Consortium Background-We set out to identify common genetic determinants of the length of the RR and QT intervals in 2325 individuals from isolated European populations. Methods and Results-We analyzed the heart rate at rest, measured as the RR interval, and the length of the corrected QT interval for association with 318 237 single-nucleotide polymorphisms. The RR interval was associated with common variants within GPR133, a G-protein-coupled receptor (rs885389, Pϭ3.9ϫ10

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confidence: 99%

A Genome-Wide Association Scan of RR and QT Interval Duration in 3 European Genetically Isolated Populations

Marroni

Pfeufer

Aulchenko

et al. 2009

Circ Cardiovasc Genet

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“…Thus, MYOZ2 may indirectly influence calcium signaling and pacemaker function in the heart. In a larger study of 3,282 Caucasian and African-American populations (Family Blood Pressure Program) two loci were found [24]. A significant locus on chromosome 10 (142.78cM; LOD=4.6) was linked to HR in the Caucasian group of HyperGEN.…”

Section: Genetics Of Hr Trait In Humansmentioning

confidence: 97%

“…A significant locus on chromosome 10 (142.78cM; LOD=4.6) was linked to HR in the Caucasian group of HyperGEN. However, a common region on chromosome 5p13-14 (LOD=1.9) influenced HR in both races [24]. Genome-wide linkage for HR showed a peak on chromosome 18 (77cM; LOD = 2.03) in 73 Mongolian families [25].…”

Section: Genetics Of Hr Trait In Humansmentioning

confidence: 99%

Genetic Determinants of Heart Rate Variation and Cardiovascular Diseases

Korshunov¹,

Dyachenko²,

Мурашев³

2013

Genetic Disorders

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Additional information is available at the end of the chapter http://dx.doi.org/10.5772/53642 . IntroductionHeart rate HR is a variable parameter that rapidly adjusts to changing hemodynamic demands Fig. . HR is determined by several mechanisms. First, chronotropic regulation of the heart occurs through spontaneous and periodic depolarization of sino-atrial SA pacemaker cells. The activity of the SA node is modulated by the autonomic nervous system, intrinsic cardiac nervous system, baroreflexes, and respiration. Second, the sympathetic nervous system SNS stimulates postganglionic sympathetic nerve fibers and triggers norepinephrine release in the SA node that results in an increase in HR. Third, the parasympathetic nervous system PNS also plays a significant role in regulation of HR. Parasympathetic vagal nerve endings release acetylcholine, which binds to muscarinic cholinergic receptors on pacemaker cells, causing opening of potassium channels, hyperpolarization of the membrane, and, consequently, a decrease in HR. Fourth, humoral and mechanical signals have an effect on HR and its variability. Mechanoreceptors in the atrium respond to stretch occurs during respiration and change HR without neural input [ ]. Βhanges in blood pressure ΑP impact HR via baroreceptor reflexes. In response to high ΑP, stretch-sensitive receptors in the carotid sinus and aortic arch send action potentials via the vagus and glossopharyngeal nerves to the solitary tract nucleus NTS of the brainstem. The NTS affects the ventrolateral medulla is causing an inhibition of sympathetic drive and activates the PNS by triggering the nucleus ambiguous. The result is a decrease in HR and ΑP. In response to hypotension, the baroreceptor reflex works in the opposite direction, leading to an increase in sympathetic drive and decrease in vagal tone, which raises HR and ΑP. Mechanical signals also lead to respiratory sinus arrhythmia -increased in HR during inhalation and decreased HR during exhalation. This normal physiologic phenomenon involves an © 2013 Korshunov et al.; licensee InTech. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.increase in intrathoracic volume during inspiration that results in an increase in HR by activation of SNS and a decrease in parasympathetic tone. The integrated spectral power of high frequency HF, > . Hz HR variability HRV is used as an index of the level of parasympathetic activity. Low frequency LF, . -. Hz power of HRV reflects both sympathetic and parasympathetic activity and the LF/HF ratio is an indicator of sympatho-vagal balance [ ]. Αody temperature plays a relatively minor role in HRV. It has been shown that hypothermia is associated with bradycardia decrease in HR and fever associates with tachycardia increase in HR in neonates [ ]. However, the contribution of baseline HR to HRV i...

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“…Singh et al, (2002) identified significant genetic regions contributing to heart rate variability on chromosome 15 at 62 cM and chromosome 2 at 153 cM. In the recent meta-analysis of genome-wide scans for study networks that enrolled Caucasians and AfricanAmericans, Laramie et al (2006) concluded in the replication between various ethnic groups as well as the study networks with low heterogeneity on chromosome 5p13-14. Wilk et al (2002) also identified that 195.06 cM region of chromosome 4 is seemingly related to the variability in resting heart rate.…”

Section: Introductionmentioning

confidence: 99%

“…The mechanism for elevated heart rate and its association with such diseases and death is still not well understood. A number of twin and family studies have reported that genetic factors influence the regulation of heart rate (Singh et al, 1999;Woodman et al, 2002;Wilk et al, 2002;Martin et al, 2004;Neumann et al, 2005;Laramie et al, 2006;Larson et al, 2007;Newton-Cheh et al, 2007;O'Donnell et al, 2007). Voss et al (1996) reported that there is a genetic component in heart rate generation and heart rate variability in monozygotic and dizygotic twin pairs.…”

Section: Introductionmentioning

confidence: 99%

Heritability and linkage study on heart rates in a Mongolian population

et al. 2008

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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.

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Evidence for a gene influencing heart rate on chromosome 5p13-14 in a meta-analysis of genome-wide scans from the NHLBI Family Blood Pressure Program

Cited by 11 publications

References 44 publications

A Genome-Wide Association Scan of RR and QT Interval Duration in 3 European Genetically Isolated Populations

A Genome-Wide Association Scan of RR and QT Interval Duration in 3 European Genetically Isolated Populations

Genetic Determinants of Heart Rate Variation and Cardiovascular Diseases

Heritability and linkage study on heart rates in a Mongolian population

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