Imperial College London
Alternate

ProfessorJohnChambers

Faculty of Medicine, School of Public Health

Professor of Cardiovascular Medicine & Epidemiology
 
 
 
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Contact

 

+44 (0)7866 365 776john.chambers

 
 
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Location

 

172Medical SchoolSt Mary's Campus

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Summary

 

Publications

Citation

BibTex format

@article{Wood:2014:10.1038/ng.3097,
author = {Wood, AR and Esko, T and Yang, J and Vedantam, S and Pers, TH and Gustafsson, S and Chun, AY and Estrada, K and Luan, J and Kutalik, Z and Amin, N and Buchkovich, ML and Croteau-Chonka, DC and Day, FR and Duan, Y and Fall, T and Fehrmann, R and Ferreira, T and Jackson, AU and Karjalainen, J and Lo, KS and Locke, AE and Maegi, R and Mihailov, E and Porcu, E and Randall, JC and Scherag, A and Vinkhuyzen, AAE and Westra, H-J and Winkler, TW and Workalemahu, T and Zhao, JH and Absher, D and Albrecht, E and Anderson, D and Baron, J and Beekman, M and Demirkan, A and Ehret, GB and Feenstra, B and Feitosa, MF and Fischer, K and Fraser, RM and Goel, A and Gong, J and Justice, AE and Kanoni, S and Kleber, ME and Kristiansson, K and Lim, U and Lotay, V and Lui, JC and Mangino, M and Leach, IM and Medina-Gomez, C and Nalls, MA and Nyholt, DR and Palmer, CD and Pasko, D and Pechlivanis, S and Prokopenko, I and Ried, JS and Ripke, S and Shungin, D and Stancakova, A and Strawbridge, RJ and Sung, YJ },
doi = {10.1038/ng.3097},
journal = {Nature Genetics},
pages = {1173--1186},
title = {Defining the role of common variation in the genomic and biological architecture of adult human height},
url = {http://dx.doi.org/10.1038/ng.3097},
volume = {46},
year = {2014}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in independent studies, we show that the most strongly associated ~2,000, ~3,700 and ~9,500 SNPs explained ~21%, ~24% and ~29% of phenotypic variance. Furthermore, all common variants together captured 60% of heritability. The 697 variants clustered in 423 loci were enriched for genes, pathways and tissue types known to be involved in growth and together implicated genes and pathways not highlighted in earlier efforts, such as signaling by fibroblast growth factors, WNT/β-catenin and chondroitin sulfate–related genes. We identified several genes and pathways not previously connected with human skeletal growth, including mTOR, osteoglycin and binding of hyaluronic acid. Our results indicate a genetic architecture for human height that is characterized by a very large but finite number (thousands) of causal variants.
AU  - Wood,AR
AU  - Esko,T
AU  - Yang,J
AU  - Vedantam,S
AU  - Pers,TH
AU  - Gustafsson,S
AU  - Chun,AY
AU  - Estrada,K
AU  - Luan,J
AU  - Kutalik,Z
AU  - Amin,N
AU  - Buchkovich,ML
AU  - Croteau-Chonka,DC
AU  - Day,FR
AU  - Duan,Y
AU  - Fall,T
AU  - Fehrmann,R
AU  - Ferreira,T
AU  - Jackson,AU
AU  - Karjalainen,J
AU  - Lo,KS
AU  - Locke,AE
AU  - Maegi,R
AU  - Mihailov,E
AU  - Porcu,E
AU  - Randall,JC
AU  - Scherag,A
AU  - Vinkhuyzen,AAE
AU  - Westra,H-J
AU  - Winkler,TW
AU  - Workalemahu,T
AU  - Zhao,JH
AU  - Absher,D
AU  - Albrecht,E
AU  - Anderson,D
AU  - Baron,J
AU  - Beekman,M
AU  - Demirkan,A
AU  - Ehret,GB
AU  - Feenstra,B
AU  - Feitosa,MF
AU  - Fischer,K
AU  - Fraser,RM
AU  - Goel,A
AU  - Gong,J
AU  - Justice,AE
AU  - Kanoni,S
AU  - Kleber,ME
AU  - Kristiansson,K
AU  - Lim,U
AU  - Lotay,V
AU  - Lui,JC
AU  - Mangino,M
AU  - Leach,IM
AU  - Medina-Gomez,C
AU  - Nalls,MA
AU  - Nyholt,DR
AU  - Palmer,CD
AU  - Pasko,D
AU  - Pechlivanis,S
AU  - Prokopenko,I
AU  - Ried,JS
AU  - Ripke,S
AU  - Shungin,D
AU  - Stancakova,A
AU  - Strawbridge,RJ
AU  - Sung,YJ
AU  - Tanaka,T
AU  - Teumer,A
AU  - Trompet,S
AU  - van,der Laan SW
AU  - van,Setten J
AU  - Van,Vliet-Ostaptchouk JV
AU  - Wang,Z
AU  - Yengo,L
AU  - Zhang,W
AU  - Afzal,U
AU  - Arnloev,J
AU  - Arscott,GM
AU  - Bandinelli,S
AU  - Barrett,A
AU  - Bellis,C
AU  - Bennett,AJ
AU  - Berne,C
AU  - Blueher,M
AU  - Bolton,JL
AU  - Boettcher,Y
AU  - Boyd,HA
AU  - Bruinenberg,M
AU  - Buckley,BM
AU  - Buyske,S
AU  - Caspersen,IH
AU  - Chines,PS
AU  - Clarke,R
AU  - Claudi-Boehm,S
AU  - Cooper,M
AU  - Daw,EW
AU  - De,Jong PA
AU  - Deelen,J
AU  - Delgado,G
AU  - Denny,JC
AU  - Dhonukshe-Rutten,R
AU  - Dimitriou,M
AU  - Doney,ASF
AU  - Doerr,M
AU  - Eklund,N
AU  - Eury,E
AU  - Folkersen,L
AU  - Garcia,ME
AU  - Geller,F
AU  - Giedraitis,V
AU  - Go,AS
AU  - Grallert,H
AU  - Grammer,TB
AU  - Graessler,J
AU  - Groenberg,H
AU  - de,Groot LCPGM
AU  - Groves,CJ
AU  - Haessler,J
AU  - Hall,P
AU  - Haller,T
AU  - Hallmans,G
AU  - Hannemann,A
AU  - Hartman,CA
AU  - Hassinen,M
AU  - Hayward,C
AU  - Heard-Costa,NL
AU  - Helmer,Q
AU  - Hemani,G
AU  - Henders,AK
AU  - Hillege,HL
AU  - Hlatky,MA
AU  - Hoffmann,W
AU  - Hoffmann,P
AU  - Holmen,O
AU  - Houwing-Duistermaat,JJ
AU  - Illig,T
AU  - Isaacs,A
AU  - James,AL
AU  - Jeff,J
AU  - Johansen,B
AU  - Johansson,A
AU  - Jolley,J
AU  - Juliusdottir,T
AU  - Junttila,J
AU  - Kho,AN
AU  - Kinnunen,L
AU  - Klopp,N
AU  - Kocher,T
AU  - Kratzer,W
AU  - Lichtner,P
AU  - Lind,L
AU  - Lindstroem,J
AU  - Lobbens,S
AU  - Lorentzon,M
AU  - Lu,Y
AU  - Lyssenko,V
AU  - Magnusson,PKE
AU  - Mahajan,A
AU  - Maillard,M
AU  - McArdle,WL
AU  - McKenzie,CA
AU  - McLachlan,S
AU  - McLaren,PJ
AU  - Menni,C
AU  - Merger,S
AU  - Milani,L
AU  - Moayyeri,A
AU  - Monda,KL
AU  - Morken,MA
AU  - Mueller,G
AU  - Mueller-Nurasyid,M
AU  - Musk,AW
AU  - Narisu,N
AU  - Nauck,M
AU  - Nolte,IM
AU  - No
DO  - 10.1038/ng.3097
EP  - 1186
PY  - 2014///
SN  - 1546-1718
SP  - 1173
TI  - Defining the role of common variation in the genomic and biological architecture of adult human height
T2  - Nature Genetics
UR  - http://dx.doi.org/10.1038/ng.3097
UR  - http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000344131900008&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
UR  - http://hdl.handle.net/10044/1/30170
VL  - 46
ER  -
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