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GWAS Study

Genome-wide association analysis identifies multiple loci related to resting heart rate.

Eijgelsheim M, Newton-Cheh C, Sotoodehnia N et al.

20639392 PubMed ID
GWAS Study Type
38991 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

EM
Eijgelsheim M
NC
Newton-Cheh C
SN
Sotoodehnia N
DB
de Bakker PI
MM
Müller M
MA
Morrison AC
SA
Smith AV
IA
Isaacs A
SS
Sanna S
DM
Dörr M
NP
Navarro P
FC
Fuchsberger C
NI
Nolte IM
DG
de Geus EJ
EK
Estrada K
HS
Hwang SJ
BJ
Bis JC
RI
Rückert IM
AA
Alonso A
LL
Launer LJ
HJ
Hottenga JJ
RF
Rivadeneira F
NP
Noseworthy PA
RK
Rice KM
PS
Perz S
AD
Arking DE
ST
Spector TD
KJ
Kors JA
AY
Aulchenko YS
TK
Tarasov KV
HG
Homuth G
WS
Wild SH
MF
Marroni F
GC
Gieger C
LC
Licht CM
PR
Prineas RJ
HA
Hofman A
RJ
Rotter JI
HA
Hicks AA
EF
Ernst F
NS
Najjar SS
WA
Wright AF
PA
Peters A
FE
Fox ER
OB
Oostra BA
KH
Kroemer HK
CD
Couper D
VH
Völzke H
CH
Campbell H
MT
Meitinger T
UM
Uda M
WJ
Witteman JC
PB
Psaty BM
WH
Wichmann HE
HT
Harris TB
KS
Kääb S
SD
Siscovick DS
JY
Jamshidi Y
UA
Uitterlinden AG
FA
Folsom AR
LM
Larson MG
WJ
Wilson JF
PB
Penninx BW
SH
Snieder H
PP
Pramstaller PP
VD
van Duijn CM
LE
Lakatta EG
FS
Felix SB
GV
Gudnason V
PA
Pfeufer A
HS
Heckbert SR
SB
Stricker BH
BE
Boerwinkle E
OC
O'Donnell CJ
Chapter II

Abstract

Summary of the research findings

Higher resting heart rate is associated with increased cardiovascular disease and mortality risk. Though heritable factors play a substantial role in population variation, little is known about specific genetic determinants. This knowledge can impact clinical care by identifying novel factors that influence pathologic heart rate states, modulate heart rate through cardiac structure and function or by improving our understanding of the physiology of heart rate regulation. To identify common genetic variants associated with heart rate, we performed a meta-analysis of 15 genome-wide association studies (GWAS), including 38,991 subjects of European ancestry, estimating the association between age-, sex- and body mass-adjusted RR interval (inverse heart rate) and approximately 2.5 million markers. Results with P < 5 × 10(-8) were considered genome-wide significant. We constructed regression models with multiple markers to assess whether results at less stringent thresholds were likely to be truly associated with RR interval. We identified six novel associations with resting heart rate at six loci: 6q22 near GJA1; 14q12 near MYH7; 12p12 near SOX5, c12orf67, BCAT1, LRMP and CASC1; 6q22 near SLC35F1, PLN and c6orf204; 7q22 near SLC12A9 and UfSp1; and 11q12 near FADS1. Associations at 6q22 400 kb away from GJA1, at 14q12 MYH6 and at 1q32 near CD34 identified in previously published GWAS were confirmed. In aggregate, these variants explain approximately 0.7% of RR interval variance. A multivariant regression model including 20 variants with P < 10(-5) increased the explained variance to 1.6%, suggesting that some loci falling short of genome-wide significance are likely truly associated. Future research is warranted to elucidate underlying mechanisms that may impact clinical care.

38,991 European ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

38991
Total Participants
GWAS
Study Type
No
Replicated
European
Ancestry
U.S., Italy, Netherlands, Germany, U.K.
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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Analysis In Progress

Our analysis of this publication is currently being prepared. Please check back soon for comprehensive insights into the health and genetic findings discussed in this research.