Imperial College London
Professor Jaspal Kooner

ProfessorJaspalKooner

Faculty of Medicine, National Heart & Lung Institute

Professor Clinical Cardiology
 
 
 
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Contact

 

+44 (0)20 3313 4751j.kooner

 
 
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Location

 

Hammersmith HospitalHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@article{O'Seaghdha:2013:10.1371/journal.pgen.1003796,
author = {O'Seaghdha, CM and Wu, H and Yang, Q and Kapur, K and Guessous, I and Zuber, AM and Koettgen, A and Stoudmann, C and Teumer, A and Kutalik, Z and Mangino, M and Dehghan, A and Zhang, W and Eiriksdottir, G and Li, G and Tanaka, T and Portas, L and Lopez, LM and Hayward, C and Lohman, K and Matsuda, K and Padmanabhan, S and Firsov, D and Sorice, R and Ulivi, S and Brockhaus, AC and Kleber, ME and Mahajan, A and Ernst, FD and Gudnason, V and Launer, LJ and Mace, A and Boerwinckle, E and Arking, DE and Tanikawa, C and Nakamura, Y and Brown, MJ and Gaspoz, J-M and Theler, J-M and Siscovick, DS and Psaty, BM and Bergmann, S and Vollenweider, P and Vitart, V and Wright, AF and Zemunik, T and Boban, M and Kolcic, I and Navarro, P and Brown, EM and Estrada, K and Ding, J and Harris, TB and Bandinelli, S and Hernandez, D and Singleton, AB and Girotto, G and Ruggiero, D and d'Adamo, AP and Robino, A and Meitinger, T and Meisinger, C and Davies, G and Starr, JM and Chambers, JC and Boehm, BO and W},
doi = {10.1371/journal.pgen.1003796},
journal = {PLoS Genetics},
pages = {1--13},
title = {Meta-analysis of genome-wide association studies identifies six new loci for serum calcium concentrations},
url = {http://dx.doi.org/10.1371/journal.pgen.1003796},
volume = {9},
year = {2013}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Calcium is vital to the normal functioning of multiple organ systems and its serum concentration is tightly regulated. Apart from CASR, the genes associated with serum calcium are largely unknown. We conducted a genome-wide association meta-analysis of 39,400 individuals from 17 population-based cohorts and investigated the 14 most strongly associated loci in ≤21,679 additional individuals. Seven loci (six new regions) in association with serum calcium were identified and replicated. Rs1570669 near CYP24A1 (P=9.1E-12), rs10491003 upstream of GATA3 (P=4.8E-09) and rs7481584 in CARS (P=1.2E-10) implicate regions involved in Mendelian calcemic disorders: Rs1550532 in DGKD (P=8.2E-11), also associated with bone density, and rs7336933 near DGKH/KIAA0564 (P=9.1E-10) are near genes that encode distinct isoforms of diacylglycerol kinase. Rs780094 is in GCKR. We characterized the expression of these genes in gut, kidney, and bone, and demonstrate modulation of gene expression in bone in response to dietary calcium in mice. Our results shed new light on the genetics of calcium homeostasis.
AU  - O'Seaghdha,CM
AU  - Wu,H
AU  - Yang,Q
AU  - Kapur,K
AU  - Guessous,I
AU  - Zuber,AM
AU  - Koettgen,A
AU  - Stoudmann,C
AU  - Teumer,A
AU  - Kutalik,Z
AU  - Mangino,M
AU  - Dehghan,A
AU  - Zhang,W
AU  - Eiriksdottir,G
AU  - Li,G
AU  - Tanaka,T
AU  - Portas,L
AU  - Lopez,LM
AU  - Hayward,C
AU  - Lohman,K
AU  - Matsuda,K
AU  - Padmanabhan,S
AU  - Firsov,D
AU  - Sorice,R
AU  - Ulivi,S
AU  - Brockhaus,AC
AU  - Kleber,ME
AU  - Mahajan,A
AU  - Ernst,FD
AU  - Gudnason,V
AU  - Launer,LJ
AU  - Mace,A
AU  - Boerwinckle,E
AU  - Arking,DE
AU  - Tanikawa,C
AU  - Nakamura,Y
AU  - Brown,MJ
AU  - Gaspoz,J-M
AU  - Theler,J-M
AU  - Siscovick,DS
AU  - Psaty,BM
AU  - Bergmann,S
AU  - Vollenweider,P
AU  - Vitart,V
AU  - Wright,AF
AU  - Zemunik,T
AU  - Boban,M
AU  - Kolcic,I
AU  - Navarro,P
AU  - Brown,EM
AU  - Estrada,K
AU  - Ding,J
AU  - Harris,TB
AU  - Bandinelli,S
AU  - Hernandez,D
AU  - Singleton,AB
AU  - Girotto,G
AU  - Ruggiero,D
AU  - d'Adamo,AP
AU  - Robino,A
AU  - Meitinger,T
AU  - Meisinger,C
AU  - Davies,G
AU  - Starr,JM
AU  - Chambers,JC
AU  - Boehm,BO
AU  - Winkelmann,BR
AU  - Huang,J
AU  - Murgia,F
AU  - Wild,SH
AU  - Campbell,H
AU  - Morris,AP
AU  - Franco,OH
AU  - Hofman,A
AU  - Uitterlinden,AG
AU  - Rivadeneira,F
AU  - Voelker,U
AU  - Hannemann,A
AU  - Biffar,R
AU  - Hoffmann,W
AU  - Shin,S-Y
AU  - Lescuyer,P
AU  - Henry,H
AU  - Schurmann,C
AU  - Munroe,PB
AU  - Gasparini,P
AU  - Pirastu,N
AU  - Ciullo,M
AU  - Gieger,C
AU  - Maerz,W
AU  - Lind,L
AU  - Spector,TD
AU  - Smith,AV
AU  - Rudan,I
AU  - Wilson,JF
AU  - Polasek,O
AU  - Deary,IJ
AU  - Pirastu,M
AU  - Ferrucci,L
AU  - Liu,Y
AU  - Kestenbaum,B
AU  - Kooner,JS
AU  - Witteman,JCM
AU  - Nauck,M
AU  - Kao,WHL
AU  - Wallaschofski,H
AU  - Bonny,O
AU  - Fox,CS
AU  - Bochud,M
DO  - 10.1371/journal.pgen.1003796
EP  - 13
PY  - 2013///
SN  - 1553-7390
SP  - 1
TI  - Meta-analysis of genome-wide association studies identifies six new loci for serum calcium concentrations
T2  - PLoS Genetics
UR  - http://dx.doi.org/10.1371/journal.pgen.1003796
UR  - http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000325076600054&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
UR  - https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1003796
UR  - http://hdl.handle.net/10044/1/72542
VL  - 9
ER  -
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