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

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, Toni I. Pollin, Jeffrey R. O’Connell, Laura M. Yerges-Armstrong, Chrysoula Kiagiadaki, Kalliope Panoutsopoulou, Jeremy Schwartzentruber, Loukas Moutsianas, Emmanouil Tsafantakis, Chris Tyler-Smith, Gil McVean, Yali Xue and Eleftheria Zeggini ()
Additional contact information
Ioanna Tachmazidou: Wellcome Trust Sanger Institute
George Dedoussis: Harokopio, University of Athens
Lorraine Southam: Wellcome Trust Sanger Institute
Aliki-Eleni Farmaki: Harokopio, University of Athens
Graham R. S. Ritchie: Wellcome Trust Sanger Institute
Dionysia K. Xifara: Wellcome Trust Centre for Human Genetics
Angela Matchan: Wellcome Trust Sanger Institute
Konstantinos Hatzikotoulas: Wellcome Trust Sanger Institute
Nigel W. Rayner: Wellcome Trust Sanger Institute
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

Nature Communications, 2013, vol. 4, issue 1, 1-6

Abstract: 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 (

Date: 2013
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DOI: 10.1038/ncomms3872

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