Article
A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates.
Nature communications - 1 Jan 2013
Tachmazidou Ioanna, Dedoussis George, Southam Lorraine, Farmaki Aliki-Eleni, Ritchie Graham R S, Xifara Dionysia K, Matchan Angela, Hatzikotoulas Konstantinos, Rayner Nigel W, Chen Yuan, Pollin Toni I, O'Connell Jeffrey R, Yerges-Armstrong Laura M, Kiagiadaki Chrysoula, Panoutsopoulou Kalliope, Schwartzentruber Jeremy, Moutsianas Loukas, Tsafantakis Emmanouil, Tyler-Smith Chris, McVean Gil, Xue Yali, Zeggini Eleftheria
Abstract excerpt
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...
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