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Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels.
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; Lyytikäinen, 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; Kooner, Angad S.
Affiliation
  • van Leeuwen EM; Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Sabo A; Human Genome Sequencing Center, Baylor College of Medicine, Houston, USA.
  • Bis JC; Department of Medicine, University of Washington, Seattle, USA.
  • Huffman JE; Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK The Framingham Heart Study, NHLBI Cardiovascular Epidemiology and Human Genomics Branch, Framingham, USA.
  • Manichaikul A; Center for Public Health Genomics, University of Virginia, Charlottesville, USA.
  • Smith AV; Icelandic Heart Association, Kopavogur, Iceland Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
  • Feitosa MF; Department of Genetics, Washington University School of Medicine, St Louis, USA.
  • Demissie S; Department of Biostatistics, Boston University School of Public Health, Boston, USA.
  • Joshi PK; Usher Institute for Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, UK.
  • Duan Q; Department of Genetics, University of North Carolina, Chapel Hill, USA.
  • Marten J; Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
  • van Klinken JB; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Surakka I; Human Genomics Unit, Institute for Molecular Medicine, University of Helsinki, Helsinki, Finland.
  • Nolte IM; Department of Epidemiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Zhang W; Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK Department of Cardiology, Ealing Hospital NHS Trust, Middlesex, UK.
  • Mbarek H; Department of Biological Psychology, VU University Amsterdam and EMGO+ Institute for Health and Care Research, Amsterdam, The Netherlands.
  • Li-Gao R; Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands.
  • Trompet S; Department of Cardiology, Leiden University Medical Center, Leiden, The Netherlands Department of Gerontology and Geriatrics, Leiden University Medical Center, Leiden, The Netherlands.
  • Verweij N; Department of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Evangelou E; Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina, Greece.
  • Lyytikäinen LP; Department of Clinical Chemistry, Fimlab Laboratories, Tampere, Finland Department of Clinical Chemistry, University of Tampere School of Medicine, Tampere, Finland.
  • Tayo BO; Public Health Sciences, Loyola University Chicago Stritch School of Medicine, Maywood, USA.
  • Deelen J; Department of Molecular Epidemiology, Leiden University Medical Center, Leiden, The Netherlands.
  • van der Most PJ; Department of Epidemiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • van der Laan SW; Laboratory of Experimental Cardiology, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Arking DE; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, USA.
  • Morrison A; Human Genetics Center, The University of Texas School of Public Health, Houston, USA.
  • Dehghan A; Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Franco OH; Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Hofman A; Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Rivadeneira F; Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Sijbrands EJ; Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Uitterlinden AG; Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Mychaleckyj JC; Center for Public Health Genomics, University of Virginia, Charlottesville, USA.
  • Campbell A; Generation Scotland, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
  • Hocking LJ; Musculoskeletal Research Programme, Division of Applied Medicine, University of Aberdeen, Aberdeen, UK.
  • Padmanabhan S; British Heart Foundation Glasgow Cardiovascular Research Centre, Institute of Cardiovascular and Medical Sciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK.
  • Brody JA; Department of Medicine, University of Washington, Seattle, USA.
  • Rice KM; Department of Biostatistics, University of Washington, Seattle, USA.
  • White CC; Brigham and Women's Hospital, Boston, USA.
  • Harris T; Laboratory of Epidemiology and Population Sciences, National Institute on Aging, National Institutes of Health, Bethesda, USA.
  • Isaacs A; Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Campbell H; Usher Institute for Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, UK.
  • Lange LA; Department of Genetics, University of North Carolina, Chapel Hill, USA.
  • Rudan I; Centre for Population Health Sciences, University of Edinburgh, Edinburgh, UK.
  • Kolcic I; Faculty of Medicine, University of Split, Split, Croatia.
  • Navarro P; Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
  • Zemunik T; Faculty of Medicine, University of Split, Split, Croatia.
  • Salomaa V; Department of Health, National Institute for Health and Welfare, Helsinki, Finland.
  • Kooner AS; Cardiovascular Science, National Heart and Lung Institute, Imperial College London, London, UK.
J Med Genet ; 53(7): 441-9, 2016 07.
Article in En | MEDLINE | ID: mdl-27036123
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 ∼60 000 individuals in the discovery stage and ∼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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genome, Human / Exons / Polymorphism, Single Nucleotide / Angiopoietins Type of study: Systematic_reviews Limits: Female / Humans / Male / Middle aged Language: En Journal: J Med Genet Year: 2016 Document type: Article Affiliation country: Netherlands
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genome, Human / Exons / Polymorphism, Single Nucleotide / Angiopoietins Type of study: Systematic_reviews Limits: Female / Humans / Male / Middle aged Language: En Journal: J Med Genet Year: 2016 Document type: Article Affiliation country: Netherlands