Imperial College London
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DrRahaPazoki

Faculty of Medicine, School of Public Health

Honorary Lecturer
 
 
 
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Contact

 

+44 (0)20 7594 1174r.pazoki

 
 
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Location

 

VC7Praed StreetSt Mary's Campus

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Summary

 

Publications

Citation

BibTex format

@article{Iotchkova:2016:10.1038/ng.3668,
author = {Iotchkova, V and Huang, J and Morris, JA and Jain, D and Barbieri, C and Walter, K and Min, JL and Chen, L and Astle, W and Cocca, M and Deelen, P and Elding, H and Farmaki, A-E and Franklin, CS and Franberg, M and Gaunt, TR and Hofman, A and Jiang, T and Kleber, ME and Lachance, G and Luan, J and Malerba, G and Matchan, A and Mead, D and Memari, Y and Ntalla, I and Panoutsopoulou, K and Pazoki, R and Perry, JRB and Rivadeneira, F and Sabater-Lleal, M and Sennblad, B and Shin, S-Y and Southam, L and Traglia, M and van, Dijk F and van, Leeuwen EM and Zaza, G and Zhang, W and Amin, N and Butterworth, A and Chambers, JC and Dedoussis, G and Dehghan, A and Franco, OH and Franke, L and Frontini, M and Gambaro, G and Gasparini, P and Hamsten, A and Issacs, A and Kooner, JS and Kooperberg, C and Langenberg, C and Marz, W and Scott, RA and Swertz, MA and Toniolo, D and Uitterlinden, AG and van, Duijn CM and Watkins, H and Zeggini, E and Maurano, MT and Timpson, NJ and Reiner, AP and Auer, PL a},
doi = {10.1038/ng.3668},
journal = {Nature Genetics},
pages = {1303--1312},
title = {Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps},
url = {http://dx.doi.org/10.1038/ng.3668},
volume = {48},
year = {2016}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Large-scale whole genome sequence datasets offer novel opportunities to identify genetic variation underlying human traits. Here we apply genotype imputation based on whole genome sequence data from the UK10K and the 1000 Genomes Projects into 35,981 study participants of European ancestry, followed by association analysis with twenty quantitative cardiometabolic and hematologic traits. We describe 17 novel associations, including six rare (minor allele frequency [MAF]<1%) or low frequency variants (1%<MAF<5%) with platelet count (PLT), red cell indices (MCH, MCV) and high-density lipoprotein (HDL) cholesterol. Applying fine-mapping analysis to 233 known and novel loci associated with the twenty traits, we resolve associations of 59 loci to credible sets of 20 or less variants, and describe trait enrichments within regions of predicted regulatory function. These findings augment understanding of the allelic architecture of risk factors for cardiometabolic and hematologic diseases, and provide additional functional insights with the identification of potentially novel biological targets.
AU  - Iotchkova,V
AU  - Huang,J
AU  - Morris,JA
AU  - Jain,D
AU  - Barbieri,C
AU  - Walter,K
AU  - Min,JL
AU  - Chen,L
AU  - Astle,W
AU  - Cocca,M
AU  - Deelen,P
AU  - Elding,H
AU  - Farmaki,A-E
AU  - Franklin,CS
AU  - Franberg,M
AU  - Gaunt,TR
AU  - Hofman,A
AU  - Jiang,T
AU  - Kleber,ME
AU  - Lachance,G
AU  - Luan,J
AU  - Malerba,G
AU  - Matchan,A
AU  - Mead,D
AU  - Memari,Y
AU  - Ntalla,I
AU  - Panoutsopoulou,K
AU  - Pazoki,R
AU  - Perry,JRB
AU  - Rivadeneira,F
AU  - Sabater-Lleal,M
AU  - Sennblad,B
AU  - Shin,S-Y
AU  - Southam,L
AU  - Traglia,M
AU  - van,Dijk F
AU  - van,Leeuwen EM
AU  - Zaza,G
AU  - Zhang,W
AU  - Amin,N
AU  - Butterworth,A
AU  - Chambers,JC
AU  - Dedoussis,G
AU  - Dehghan,A
AU  - Franco,OH
AU  - Franke,L
AU  - Frontini,M
AU  - Gambaro,G
AU  - Gasparini,P
AU  - Hamsten,A
AU  - Issacs,A
AU  - Kooner,JS
AU  - Kooperberg,C
AU  - Langenberg,C
AU  - Marz,W
AU  - Scott,RA
AU  - Swertz,MA
AU  - Toniolo,D
AU  - Uitterlinden,AG
AU  - van,Duijn CM
AU  - Watkins,H
AU  - Zeggini,E
AU  - Maurano,MT
AU  - Timpson,NJ
AU  - Reiner,AP
AU  - Auer,PL
AU  - Soranzo,N
DO  - 10.1038/ng.3668
EP  - 1312
PY  - 2016///
SN  - 1061-4036
SP  - 1303
TI  - Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps
T2  - Nature Genetics
UR  - http://dx.doi.org/10.1038/ng.3668
UR  - http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000386543400005&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
UR  - http://hdl.handle.net/10044/1/51337
VL  - 48
ER  -
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