Imperial College London


Faculty of MedicineSchool of Public Health

Reader in Cardiometabolic Disease Epidemiology



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BibTex format

author = {van, Leeuwen EM and Sabo, A and Bis, JC and Huffman, JE and Manichaikul, A and Smith, AV and Feitosa, MF and Demissie, S and Joshi, PK and Duan, Q and Marten, J and van, Klinken JB and Surakka, I and Nolte, IM and Zhang, W and Mbarek, H and Li-Gao, R and Trompet, S and Verweij, N and Evangelou, E and Lyytikäinen, LP and Tayo, BO and Deelen, J and van, der Most PJ and van, der Laan SW and Arking, DE and Morrison, A and Dehghan, A and Franco, OH and Hofman, A and Rivadeneira, F and Sijbrands, EJ and Uitterlinden, AG and Mychaleckyj, JC and Campbell, A and Hocking, LJ and Padmanabhan, S and Brody, JA and Rice, KM and White, CC and Harris, T and Isaacs, A and Campbell, H and Lange, LA and Rudan, I and Kolcic, I and Navarro, P and Zemunik, T and Salomaa, V and LifeLines, Cohort Study and Kooner, AS and Kooner, JS and Lehne, B and Scott, WR and Tan, ST and de, Geus EJ and Milaneschi, Y and Penninx, BW and Willemsen, G and de, Mutsert R and Ford, I and Gansevoort, RT and Segura-Lepe, MP and R},
doi = {10.1136/jmedgenet-2015-103439},
journal = {Journal of Medical Genetics},
pages = {441--449},
title = {Meta-analysis of 49549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels},
url = {},
volume = {53},
year = {2016}

RIS format (EndNote, RefMan)

AB - BACKGROUND: So far, more than 170 loci have been associated with circulating lipid levels through genome-wide association studies (GWAS). These associations are largely driven by common variants, their function is often not known, and many are likely to be markers for the causal variants. In this study we aimed to identify more new rare and low-frequency functional variants associated with circulating lipid levels. METHODS: We used the 1000 Genomes Project as a reference panel for the imputations of GWAS data from ∼60000 individuals in the discovery stage and ∼90000 samples in the replication stage. RESULTS: Our study resulted in the identification of five new associations with circulating lipid levels at four loci. All four loci are within genes that can be linked biologically to lipid metabolism. One of the variants, rs116843064, is a damaging missense variant within the ANGPTL4 gene. CONCLUSIONS: This study illustrates that GWAS with high-scale imputation may still help us unravel the biological mechanism behind circulating lipid levels.
AU - van,Leeuwen EM
AU - Sabo,A
AU - Bis,JC
AU - Huffman,JE
AU - Manichaikul,A
AU - Smith,AV
AU - Feitosa,MF
AU - Demissie,S
AU - Joshi,PK
AU - Duan,Q
AU - Marten,J
AU - van,Klinken JB
AU - Surakka,I
AU - Nolte,IM
AU - Zhang,W
AU - Mbarek,H
AU - Li-Gao,R
AU - Trompet,S
AU - Verweij,N
AU - Evangelou,E
AU - Lyytikäinen,LP
AU - Tayo,BO
AU - Deelen,J
AU - van,der Most PJ
AU - van,der Laan SW
AU - Arking,DE
AU - Morrison,A
AU - Dehghan,A
AU - Franco,OH
AU - Hofman,A
AU - Rivadeneira,F
AU - Sijbrands,EJ
AU - Uitterlinden,AG
AU - Mychaleckyj,JC
AU - Campbell,A
AU - Hocking,LJ
AU - Padmanabhan,S
AU - Brody,JA
AU - Rice,KM
AU - White,CC
AU - Harris,T
AU - Isaacs,A
AU - Campbell,H
AU - Lange,LA
AU - Rudan,I
AU - Kolcic,I
AU - Navarro,P
AU - Zemunik,T
AU - Salomaa,V
AU - LifeLines,Cohort Study
AU - Kooner,AS
AU - Kooner,JS
AU - Lehne,B
AU - Scott,WR
AU - Tan,ST
AU - de,Geus EJ
AU - Milaneschi,Y
AU - Penninx,BW
AU - Willemsen,G
AU - de,Mutsert R
AU - Ford,I
AU - Gansevoort,RT
AU - Segura-Lepe,MP
AU - Raitakari,OT
AU - Viikari,JS
AU - Nikus,K
AU - Forrester,T
AU - McKenzie,CA
AU - de,Craen AJ
AU - de,Ruijter HM
AU - Pasterkamp,G
AU - Snieder,H
AU - Oldehinkel,AJ
AU - Slagboom,PE
AU - Cooper,RS
AU - Kähönen,M
AU - Lehtimäki,T
AU - Elliott,P
AU - van,der Harst P
AU - Jukema,JW
AU - Mook-Kanamori,DO
AU - Boomsma,DI
AU - Chambers,JC
AU - Swertz,M
AU - Ripatti,S
AU - Willems,van Dijk K
AU - Vitart,V
AU - Polasek,O
AU - Hayward,C
AU - Wilson,JG
AU - Wilson,JF
AU - Gudnason,V
AU - Rich,SS
AU - Psaty,BM
AU - Borecki,IB
AU - Boerwinkle,E
AU - Rotter,JI
AU - Cupples,LA
AU - van,Duijn CM
DO - 10.1136/jmedgenet-2015-103439
EP - 449
PY - 2016///
SN - 1468-6244
SP - 441
TI - Meta-analysis of 49549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels
T2 - Journal of Medical Genetics
UR -
UR -
VL - 53
ER -