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GWAS Study

GWAS analysis of handgrip and lower body strength in older adults in the CHARGE consortium.

Matteini AM, Tanaka T, Karasik D et al.

27325353 PubMed ID
GWAS Study Type
33974 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

MA
Matteini AM
TT
Tanaka T
KD
Karasik D
AG
Atzmon G
CW
Chou WC
EJ
Eicher JD
JA
Johnson AD
AA
Arnold AM
CM
Callisaya ML
DG
Davies G
ED
Evans DS
HB
Holtfreter B
LK
Lohman K
LK
Lunetta KL
MM
Mangino M
SA
Smith AV
SJ
Smith JA
TA
Teumer A
YL
Yu L
AD
Arking DE
BA
Buchman AS
CL
Chibinik LB
DJ
De Jager PL
ED
Evans DA
FJ
Faul JD
GM
Garcia ME
GI
Gillham-Nasenya I
GV
Gudnason V
HA
Hofman A
HY
Hsu YH
IT
Ittermann T
LL
Lahousse L
LD
Liewald DC
LY
Liu Y
LL
Lopez L
RF
Rivadeneira F
RJ
Rotter JI
SK
Siggeirsdottir K
SJ
Starr JM
TR
Thomson R
TG
Tranah GJ
UA
Uitterlinden AG
VU
Völker U
VH
Völzke H
WD
Weir DR
YK
Yaffe K
ZW
Zhao W
ZW
Zhuang WV
ZJ
Zmuda JM
BD
Bennett DA
CS
Cummings SR
DI
Deary IJ
FL
Ferrucci L
HT
Harris TB
KS
Kardia SL
KT
Kocher T
KS
Kritchevsky SB
PB
Psaty BM
SS
Seshadri S
ST
Spector TD
SV
Srikanth VK
WB
Windham BG
ZM
Zillikens MC
NA
Newman AB
WJ
Walston JD
KD
Kiel DP
MJ
Murabito JM
Chapter II

Abstract

Summary of the research findings

Decline in muscle strength with aging is an important predictor of health trajectory in the elderly. Several factors, including genetics, are proposed contributors to variability in muscle strength. To identify genetic contributors to muscle strength, a meta-analysis of genomewide association studies of handgrip was conducted. Grip strength was measured using a handheld dynamometer in 27 581 individuals of European descent over 65 years of age from 14 cohort studies. Genomewide association analysis was conducted on ~2.7 million imputed and genotyped variants (SNPs). Replication of the most significant findings was conducted using data from 6393 individuals from three cohorts. GWAS of lower body strength was also characterized in a subset of cohorts. Two genomewide significant (P-value< 5 × 10(-8) ) and 39 suggestive (P-value< 5 × 10(-5) ) associations were observed from meta-analysis of the discovery cohorts. After meta-analysis with replication cohorts, genomewide significant association was observed for rs752045 on chromosome 8 (β = 0.47, SE = 0.08, P-value = 5.20 × 10(-10) ). This SNP is mapped to an intergenic region and is located within an accessible chromatin region (DNase hypersensitivity site) in skeletal muscle myotubes differentiated from the human skeletal muscle myoblasts cell line. This locus alters a binding motif of the CCAAT/enhancer-binding protein-β (CEBPB) that is implicated in muscle repair mechanisms. GWAS of lower body strength did not yield significant results. A common genetic variant in a chromosomal region that regulates myotube differentiation and muscle repair may contribute to variability in grip strength in the elderly. Further studies are needed to uncover the mechanisms that link this genetic variant with muscle strength.

27,581 European ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

33974
Total Participants
GWAS
Study Type
Yes
Replicated
6,393 individuals
Replication Participants
European
Ancestry
Australia, U.S., Germany, Iceland, U.K., Italy
Recruitment Country
Chapter IV

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