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A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates

Author

Listed:
  • Ioanna Tachmazidou

    (Wellcome Trust Sanger Institute)

  • George Dedoussis

    (Harokopio, University of Athens)

  • Lorraine Southam

    (Wellcome Trust Sanger Institute
    Wellcome Trust Centre for Human Genetics)

  • Aliki-Eleni Farmaki

    (Harokopio, University of Athens)

  • Graham R. S. Ritchie

    (Wellcome Trust Sanger Institute
    European Molecular Biology Laboratory, European Bioinformatics Institute)

  • Dionysia K. Xifara

    (Wellcome Trust Centre for Human Genetics
    University of Oxford)

  • Angela Matchan

    (Wellcome Trust Sanger Institute)

  • Konstantinos Hatzikotoulas

    (Wellcome Trust Sanger Institute)

  • Nigel W. Rayner

    (Wellcome Trust Sanger Institute
    Wellcome Trust Centre for Human Genetics)

  • Yuan Chen

    (Wellcome Trust Sanger Institute)

  • Toni I. Pollin

    (Diabetes, and Nutrition, University of Maryland School of Medicine)

  • Jeffrey R. O’Connell

    (Diabetes, and Nutrition, University of Maryland School of Medicine)

  • Laura M. Yerges-Armstrong

    (Diabetes, and Nutrition, University of Maryland School of Medicine)

  • Chrysoula Kiagiadaki

    (Anogia Medical Centre)

  • Kalliope Panoutsopoulou

    (Wellcome Trust Sanger Institute)

  • Jeremy Schwartzentruber

    (Wellcome Trust Sanger Institute)

  • Loukas Moutsianas

    (Wellcome Trust Centre for Human Genetics)

  • Emmanouil Tsafantakis

    (Anogia Medical Centre)

  • Chris Tyler-Smith

    (Wellcome Trust Sanger Institute)

  • Gil McVean

    (Wellcome Trust Centre for Human Genetics)

  • Yali Xue

    (Wellcome Trust Sanger Institute)

  • Eleftheria Zeggini

    (Wellcome Trust Sanger Institute)

Abstract

Isolated populations can empower the identification of rare variation associated with complex traits through next generation association studies, but the generalizability of such findings remains unknown. Here we genotype 1,267 individuals from a Greek population isolate on the Illumina HumanExome Beadchip, in search of functional coding variants associated with lipids traits. We find genome-wide significant evidence for association between R19X, a functional variant in APOC3, with increased high-density lipoprotein and decreased triglycerides levels. Approximately 3.8% of individuals are heterozygous for this cardioprotective variant, which was previously thought to be private to the Amish founder population. R19X is rare (

Suggested Citation

  • Ioanna Tachmazidou & George Dedoussis & Lorraine Southam & Aliki-Eleni Farmaki & Graham R. S. Ritchie & Dionysia K. Xifara & Angela Matchan & Konstantinos Hatzikotoulas & Nigel W. Rayner & Yuan Chen &, 2013. "A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates," Nature Communications, Nature, vol. 4(1), pages 1-6, December.
    • Handle: RePEc:nat:natcom:v:4:y:2013:i:1:d:10.1038_ncomms3872
    DOI: 10.1038/ncomms3872
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