Authors
Carlo Sidore, Fabio Busonero, Andrea Maschio, Eleonora Porcu, Silvia Naitza, Magdalena Zoledziewska, Antonella Mulas, Giorgio Pistis, Maristella Steri, Fabrice Danjou, Alan Kwong, Vicente Diego Ortega del Vecchyo, Charleston WK Chiang, Jennifer Bragg-Gresham, Maristella Pitzalis, Ramaiah Nagaraja, Brendan Tarrier, Christine Brennan, Sergio Uzzau, Christian Fuchsberger, Rossano Atzeni, Frederic Reinier, Riccardo Berutti, Jie Huang, Nicholas J Timpson, Daniela Toniolo, Paolo Gasparini, Giovanni Malerba, George Dedoussis, Eleftheria Zeggini, Nicole Soranzo, Chris Jones, Robert Lyons, Andrea Angius, Hyun M Kang, John Novembre, Serena Sanna, David Schlessinger, Francesco Cucca, Gonçalo R Abecasis
Publication date
2015/11
Journal
Nature genetics
Volume
47
Issue
11
Pages
1272-1281
Publisher
Nature Publishing Group US
Description
We report ∼17.6 million genetic variants from whole-genome sequencing of 2,120 Sardinians; 22% are absent from previous sequencing-based compilations and are enriched for predicted functional consequences. Furthermore, ∼76,000 variants common in our sample (frequency >5%) are rare elsewhere (<0.5% in the 1000 Genomes Project). We assessed the impact of these variants on circulating lipid levels and five inflammatory biomarkers. We observe 14 signals, including 2 major new loci, for lipid levels and 19 signals, including 2 new loci, for inflammatory markers. The new associations would have been missed in analyses based on 1000 Genomes Project data, underlining the advantages of large-scale sequencing in this founder population.
Scholar articles
C Sidore, F Busonero, A Maschio, E Porcu, S Naitza… - Nature genetics, 2015