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@article{Liu:2017:10.1038/ng.3977,
author = {Liu, DJ and Peloso, GM and Yu, H and Butterworth, AS and Wang, X and Mahajan, A and Saleheen, D and Emdin, C and Alam, D and Alves, AC and Amouyel, P and Di, Angelantonio E and Arveiler, D and Assimes, TL and Auer, PL and Baber, U and Ballantyne, CM and Bang, LE and Benn, M and Bis, JC and Boehnke, M and Boerwinkle, E and Bork-Jensen, J and Bottinger, EP and Brandslund, I and Brown, M and Busonero, F and Caulfield, MJ and Chambers, JC and Chasman, DI and Chen, YE and Chen, Y-DI and Chowdhury, R and Christensen, C and Chu, AY and Connell, JM and Cucca, F and Cupples, LA and Damrauer, SM and Davies, G and Deary, IJ and Dedoussis, G and Denny, JC and Dominiczak, A and Dubé, M-P and Ebeling, T and Eiriksdottir, G and Esko, T and Farmaki, A-E and Feitosa, MF and Ferrario, M and Ferrieres, J and Ford, I and Fornage, M and Franks, PW and Frayling, TM and Frikke-Schmidt, R and Fritsche, LG and Frossard, P and Fuster, V and Ganesh, SK and Gao, W and Garcia, ME and Gieger, C and Giulianini, F an},
doi = {10.1038/ng.3977},
journal = {Nature Genetics},
pages = {1758--1766},
title = {Exome-wide association study of plasma lipids in >300,000 individuals.},
url = {http://dx.doi.org/10.1038/ng.3977},
volume = {49},
year = {2017}
}

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TY  - JOUR
AB  - We screened variants on an exome-focused genotyping array in >300,000 participants (replication in >280,000 participants) and identified 444 independent variants in 250 loci significantly associated with total cholesterol (TC), high-density-lipoprotein cholesterol (HDL-C), low-density-lipoprotein cholesterol (LDL-C), and/or triglycerides (TG). At two loci (JAK2 and A1CF), experimental analysis in mice showed lipid changes consistent with the human data. We also found that: (i) beta-thalassemia trait carriers displayed lower TC and were protected from coronary artery disease (CAD); (ii) excluding the CETP locus, there was not a predictable relationship between plasma HDL-C and risk for age-related macular degeneration; (iii) only some mechanisms of lowering LDL-C appeared to increase risk for type 2 diabetes (T2D); and (iv) TG-lowering alleles involved in hepatic production of TG-rich lipoproteins (TM6SF2 and PNPLA3) tracked with higher liver fat, higher risk for T2D, and lower risk for CAD, whereas TG-lowering alleles involved in peripheral lipolysis (LPL and ANGPTL4) had no effect on liver fat but decreased risks for both T2D and CAD.
AU  - Liu,DJ
AU  - Peloso,GM
AU  - Yu,H
AU  - Butterworth,AS
AU  - Wang,X
AU  - Mahajan,A
AU  - Saleheen,D
AU  - Emdin,C
AU  - Alam,D
AU  - Alves,AC
AU  - Amouyel,P
AU  - Di,Angelantonio E
AU  - Arveiler,D
AU  - Assimes,TL
AU  - Auer,PL
AU  - Baber,U
AU  - Ballantyne,CM
AU  - Bang,LE
AU  - Benn,M
AU  - Bis,JC
AU  - Boehnke,M
AU  - Boerwinkle,E
AU  - Bork-Jensen,J
AU  - Bottinger,EP
AU  - Brandslund,I
AU  - Brown,M
AU  - Busonero,F
AU  - Caulfield,MJ
AU  - Chambers,JC
AU  - Chasman,DI
AU  - Chen,YE
AU  - Chen,Y-DI
AU  - Chowdhury,R
AU  - Christensen,C
AU  - Chu,AY
AU  - Connell,JM
AU  - Cucca,F
AU  - Cupples,LA
AU  - Damrauer,SM
AU  - Davies,G
AU  - Deary,IJ
AU  - Dedoussis,G
AU  - Denny,JC
AU  - Dominiczak,A
AU  - Dubé,M-P
AU  - Ebeling,T
AU  - Eiriksdottir,G
AU  - Esko,T
AU  - Farmaki,A-E
AU  - Feitosa,MF
AU  - Ferrario,M
AU  - Ferrieres,J
AU  - Ford,I
AU  - Fornage,M
AU  - Franks,PW
AU  - Frayling,TM
AU  - Frikke-Schmidt,R
AU  - Fritsche,LG
AU  - Frossard,P
AU  - Fuster,V
AU  - Ganesh,SK
AU  - Gao,W
AU  - Garcia,ME
AU  - Gieger,C
AU  - Giulianini,F
AU  - Goodarzi,MO
AU  - Grallert,H
AU  - Grarup,N
AU  - Groop,L
AU  - Grove,ML
AU  - Gudnason,V
AU  - Hansen,T
AU  - Harris,TB
AU  - Hayward,C
AU  - Hirschhorn,JN
AU  - Holmen,OL
AU  - Huffman,J
AU  - Huo,Y
AU  - Hveem,K
AU  - Jabeen,S
AU  - Jackson,AU
AU  - Jakobsdottir,J
AU  - Jarvelin,M-R
AU  - Jensen,GB
AU  - Jørgensen,ME
AU  - Jukema,JW
AU  - Justesen,JM
AU  - Kamstrup,PR
AU  - Kanoni,S
AU  - Karpe,F
AU  - Kee,F
AU  - Khera,AV
AU  - Klarin,D
AU  - Koistinen,HA
AU  - Kooner,JS
AU  - Kooperberg,C
AU  - Kuulasmaa,K
AU  - Kuusisto,J
AU  - Laakso,M
AU  - Lakka,T
AU  - Langenberg,C
AU  - Langsted,A
AU  - Launer,LJ
AU  - Lauritzen,T
AU  - Liewald,DCM
AU  - Lin,LA
AU  - Linneberg,A
AU  - Loos,RJF
AU  - Lu,Y
AU  - Lu,X
AU  - Mägi,R
AU  - Malarstig,A
AU  - Manichaikul,A
AU  - Manning,AK
AU  - Mäntyselkä,P
AU  - Marouli,E
AU  - Masca,NGD
AU  - Maschio,A
AU  - Meigs,JB
AU  - Melander,O
AU  - Metspalu,A
AU  - Morris,AP
AU  - Morrison,AC
AU  - Mulas,A
AU  - Müller-Nurasyid,M
AU  - Munroe,PB
AU  - Neville,MJ
AU  - Nielsen,JB
AU  - Nielsen,SF
AU  - Nordestgaard,BG
AU  - Ordovas,JM
AU  - Mehran,R
AU  - O'Donnell,CJ
AU  - Orho-Melander,M
AU  - Molony,CM
AU  - Muntendam,P
AU  - Padmanabhan,S
AU  - Palmer,CNA
AU  - Pasko,D
AU  - Patel,AP
AU  - Pedersen,O
AU  - Perola,M
AU  - Peters,A
AU  - Pisinger,C
AU  - Pistis,G
AU  - Polasek,O
AU  - Poulter,N
AU  - Psaty,BM
AU  - Rader,DJ
AU  - Rasheed,A
AU  - Rauramaa,R
AU  - Reilly,DF
AU  - Reiner,AP
AU  - Renström,F
AU  - Rich,SS
AU  - Ridker,PM
AU  - Rioux,JD
AU  - Robertson,NR
AU  - Roden,DM
AU  - Rotter,JI
AU  - Rudan,I
AU  - Salomaa,V
AU  - Samani,NJ
AU  - Sanna,S
AU  - Sattar,N
AU  - Schmidt,EM
AU  - Scott,RA
AU  - Sever,P
AU  - Sevilla,RS
AU  - Shaffer,CM
AU  - Sim,X
AU  - Sivapalaratnam,S
AU  - Small,KS
AU  - Smith,AV
AU  - Smith,BH
AU  - Somayajula,S
DO  - 10.1038/ng.3977
EP  - 1766
PY  - 2017///
SN  - 1061-4036
SP  - 1758
TI  - Exome-wide association study of plasma lipids in >300,000 individuals.
T2  - Nature Genetics
UR  - http://dx.doi.org/10.1038/ng.3977
UR  - http://hdl.handle.net/10044/1/53907
VL  - 49
ER  -

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