Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels

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van Leeuwen , E M , Sabo , A , Bis , J C , Huffman , J E , Manichaikul , A , Smith , A V , Feitosa , M F , Demissie , S , Joshi , P K , Duan , Q , Marten , J , van Klinken , J B , Surakka , I , Nolte , I M , Zhang , W , Mbarek , H , Li-Gao , R , Trompet , S , Verweij , N , Evangelou , E , Lyytikainen , L-P , Tayo , B O , Deelen , J , van der Most , P J , van der Laan , S W , Arking , D E , Morrison , A , Dehghan , A , Franco , O H , Hofman , A , Rivadeneira , F , Sijbrands , E J , Uitterlinden , A G , Mychaleckyj , J C , Campbell , A , Hocking , L J , Padmanabhan , S , Brody , J A , Rice , K M , White , C C , Harris , T , Isaacs , A , Campbell , H , Lange , L A , Rudan , I , Kolcic , I , Navarro , P , Zemunik , T , Salomaa , V , Ripatti , S & CHARGE Lipids Working Grp 2016 , ' Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels ' Journal of Medical Genetics , vol. 53 , no. 7 , pp. 441-449 . DOI: 10.1136/jmedgenet-2015-103439

Title: Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels
Author: van Leeuwen, Elisabeth M.; Sabo, Aniko; Bis, Joshua C.; Huffman, Jennifer E.; Manichaikul, Ani; Smith, Albert V.; Feitosa, Mary F.; Demissie, Serkalem; Joshi, Peter K.; Duan, Qing; Marten, Jonathan; van Klinken, Jan B.; Surakka, Ida; Nolte, Ilja M.; Zhang, Weihua; Mbarek, Hamdi; Li-Gao, Ruifang; Trompet, Stella; Verweij, Niek; Evangelou, Evangelos; Lyytikainen, Leo-Pekka; Tayo, Bamidele O.; Deelen, Joris; van der Most, Peter J.; van der Laan, Sander W.; Arking, Dan E.; Morrison, Alanna; Dehghan, Abbas; Franco, Oscar H.; Hofman, Albert; Rivadeneira, Fernando; Sijbrands, Eric J.; Uitterlinden, Andre G.; Mychaleckyj, Josyf C.; Campbell, Archie; Hocking, Lynne J.; Padmanabhan, Sandosh; Brody, Jennifer A.; Rice, Kenneth M.; White, Charles C.; Harris, Tamara; Isaacs, Aaron; Campbell, Harry; Lange, Leslie A.; Rudan, Igor; Kolcic, Ivana; Navarro, Pau; Zemunik, Tatijana; Salomaa, Veikko; Ripatti, Samuli; CHARGE Lipids Working Grp
Contributor: University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Department of Public Health
Date: 2016-07
Language: eng
Number of pages: 9
Belongs to series: Journal of Medical Genetics
ISSN: 0022-2593
URI: http://hdl.handle.net/10138/164964
Abstract: 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 similar to 60 000 individuals in the discovery stage and similar to 90 000 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.
Subject: ELEMENT-BINDING PROTEIN
GENE-EXPRESSION
LIPID-SYNTHESIS
GLUCOSE
CHREBP
MUTATIONS
TRIGLYCERIDES
TRANSCRIPTION
SREBP-1C
DISEASE
1184 Genetics, developmental biology, physiology
3142 Public health care science, environmental and occupational health
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