Imperial College London
Alternate

ProfessorSimonThom

Faculty of Medicine, National Heart & Lung Institute

Emeritus Professor
 
 
 
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Contact

 

+44 (0)20 7594 1100s.thom

 
 
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Assistant

 

Mrs Yvonne Green +44 (0)20 7594 1100

 
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Location

 

330ICTEM buildingHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@article{Wild:2017:10.1172/JCI84840,
author = {Wild, PS and Felix, JF and Schillert, A and Teumer, A and Chen, M-H and Leening, MJG and Voelker, U and Grossmann, V and Brody, JA and Irvin, MR and Shah, SJ and Pramana, S and Lieb, W and Schmidt, R and Stanton, AV and Malzahn, D and Smith, AV and Sundstrom, J and Minelli, C and Ruggiero, D and Lyytikainen, L-P and Tiller, D and Smith, JG and Monnereau, C and Di, Tullio MR and Musani, SK and Morrison, AC and Pers, TH and Morley, M and Kleber, ME and Aragam, J and Benjamin, EJ and Bis, JC and Bisping, E and Broeckel, U and Cheng, S and Deckers, JW and Del, Greco F and Edelmann, F and Fornage, M and Franke, L and Friedrich, N and Harris, TB and Hofer, E and Hofman, A and Huang, J and Hughes, AD and Kahonen, M and Kruppa, J and Lackner, KJ and Lannfelt, L and Laskowski, R and Launer, LJ and Leosdottir, M and Lin, H and Lindgren, CM and Loley, C and MacRae, CA and Mascalzoni, D and Mayet, J and Medenwald, D and Morris, AP and Mueller, C and Mueller-Nurasyid, M and Nappo, S and Nilsson, PM},
doi = {10.1172/JCI84840},
journal = {JOURNAL OF CLINICAL INVESTIGATION},
pages = {1798--1812},
title = {Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function},
url = {http://dx.doi.org/10.1172/JCI84840},
volume = {127},
year = {2017}
}
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TY  - JOUR
AB  - BACKGROUND. Understanding the genetic architecture of cardiac structure and function may help to prevent and treat heart disease. This investigation sought to identify common genetic variations associated with inter-individual variability in cardiac structure and function.METHODS. A GWAS meta-analysis of echocardiographic traits was performed, including 46,533 individuals from 30 studies (EchoGen consortium). The analysis included 16 traits of left ventricular (LV) structure, and systolic and diastolic function.RESULTS. The discovery analysis included 21 cohorts for structural and systolic function traits (n = 32,212) and 17 cohorts for diastolic function traits (n = 21,852). Replication was performed in 5 cohorts (n = 14,321) and 6 cohorts (n = 16,308), respectively. Besides 5 previously reported loci, the combined meta-analysis identified 10 additional genome-wide significant SNPs: rs12541595 near MTSS1 and rs10774625 in ATXN2 for LV end-diastolic internal dimension; rs806322 near KCNRG, rs4765663 in CACNA1C, rs6702619 near PALMD, rs7127129 in TMEM16A, rs11207426 near FGGY, rs17608766 in GOSR2, and rs17696696 in CFDP1 for aortic root diameter; and rs12440869 in IQCH for Doppler transmitral A-wave peak velocity. Findings were in part validated in other cohorts and in GWAS of related disease traits. The genetic loci showed associations with putative signaling pathways, and with gene expression in whole blood, monocytes, and myocardial tissue.CONCLUSION. The additional genetic loci identified in this large meta-analysis of cardiac structure and function provide insights into the underlying genetic architecture of cardiac structure and warrant follow-up in future functional studies.
AU  - Wild,PS
AU  - Felix,JF
AU  - Schillert,A
AU  - Teumer,A
AU  - Chen,M-H
AU  - Leening,MJG
AU  - Voelker,U
AU  - Grossmann,V
AU  - Brody,JA
AU  - Irvin,MR
AU  - Shah,SJ
AU  - Pramana,S
AU  - Lieb,W
AU  - Schmidt,R
AU  - Stanton,AV
AU  - Malzahn,D
AU  - Smith,AV
AU  - Sundstrom,J
AU  - Minelli,C
AU  - Ruggiero,D
AU  - Lyytikainen,L-P
AU  - Tiller,D
AU  - Smith,JG
AU  - Monnereau,C
AU  - Di,Tullio MR
AU  - Musani,SK
AU  - Morrison,AC
AU  - Pers,TH
AU  - Morley,M
AU  - Kleber,ME
AU  - Aragam,J
AU  - Benjamin,EJ
AU  - Bis,JC
AU  - Bisping,E
AU  - Broeckel,U
AU  - Cheng,S
AU  - Deckers,JW
AU  - Del,Greco F
AU  - Edelmann,F
AU  - Fornage,M
AU  - Franke,L
AU  - Friedrich,N
AU  - Harris,TB
AU  - Hofer,E
AU  - Hofman,A
AU  - Huang,J
AU  - Hughes,AD
AU  - Kahonen,M
AU  - Kruppa,J
AU  - Lackner,KJ
AU  - Lannfelt,L
AU  - Laskowski,R
AU  - Launer,LJ
AU  - Leosdottir,M
AU  - Lin,H
AU  - Lindgren,CM
AU  - Loley,C
AU  - MacRae,CA
AU  - Mascalzoni,D
AU  - Mayet,J
AU  - Medenwald,D
AU  - Morris,AP
AU  - Mueller,C
AU  - Mueller-Nurasyid,M
AU  - Nappo,S
AU  - Nilsson,PM
AU  - Nuding,S
AU  - Nutile,T
AU  - Peters,A
AU  - Pfeufer,A
AU  - Pietzner,D
AU  - Pramstaller,PP
AU  - Raitakari,OT
AU  - Rice,KM
AU  - Rivadeneira,F
AU  - Rotter,JI
AU  - Ruohonen,ST
AU  - Sacco,RL
AU  - Samdarshi,TE
AU  - Schmidt,H
AU  - Sharp,ASP
AU  - Shields,DC
AU  - Sorice,R
AU  - Sotoodehnia,N
AU  - Stricker,BH
AU  - Surendran,P
AU  - Thom,S
AU  - Toeglhofer,AM
AU  - Uitterlinden,AG
AU  - Wachter,R
AU  - Voelzke,H
AU  - Ziegler,A
AU  - Muenzel,T
AU  - Maerz,W
AU  - Cappola,TP
AU  - Hirschhorn,JN
AU  - Mitchell,GF
AU  - Smith,NL
AU  - Fox,ER
AU  - Dueker,ND
AU  - Jaddoe,VWV
AU  - Melander,O
AU  - Russ,M
AU  - Lehtimaki,T
AU  - Ciullo,M
AU  - Hicks,AA
AU  - Lind,L
AU  - Gudnason,V
AU  - Pieske,B
AU  - Barron,AJ
AU  - Zweiker,R
AU  - Schunkert,H
AU  - Ingelsson,E
AU  - Liu,K
AU  - Arnett,DK
AU  - Psaty,BM
AU  - Blankenberg,S
AU  - Larson,MG
AU  - Felix,SB
AU  - Franco,OH
AU  - Zeller,T
AU  - Vasan,RS
AU  - Doerr,M
DO  - 10.1172/JCI84840
EP  - 1812
PY  - 2017///
SN  - 0021-9738
SP  - 1798
TI  - Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function
T2  - JOURNAL OF CLINICAL INVESTIGATION
UR  - http://dx.doi.org/10.1172/JCI84840
UR  - http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000400381000022&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
UR  - http://hdl.handle.net/10044/1/48769
VL  - 127
ER  -
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