TY - JOUR T1 - Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers. JF - Nat Genet Y1 - 2015 A1 - Sidore, Carlo A1 - Busonero, Fabio A1 - Maschio, Andrea A1 - Porcu, Eleonora A1 - Naitza, Silvia A1 - Zoledziewska, Magdalena A1 - Mulas, Antonella A1 - Pistis, Giorgio A1 - Steri, Maristella A1 - Danjou, Fabrice A1 - Kwong, Alan A1 - Ortega Del Vecchyo, Vicente Diego A1 - Chiang, Charleston W K A1 - Bragg-Gresham, Jennifer A1 - Pitzalis, Maristella A1 - Nagaraja, Ramaiah A1 - Tarrier, Brendan A1 - Brennan, Christine A1 - Uzzau, Sergio A1 - Fuchsberger, Christian A1 - Atzeni, Rossano A1 - Reinier, Frederic A1 - Berutti, Riccardo A1 - Huang, Jie A1 - Timpson, Nicholas J A1 - Toniolo, Daniela A1 - Gasparini, Paolo A1 - Malerba, Giovanni A1 - Dedoussis, George A1 - Zeggini, Eleftheria A1 - Soranzo, Nicole A1 - Jones, Chris A1 - Lyons, Robert A1 - Angius, Andrea A1 - Kang, Hyun M A1 - Novembre, John A1 - Sanna, Serena A1 - Schlessinger, David A1 - Cucca, Francesco A1 - Abecasis, Goncalo R AB -

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.

VL - 47 IS - 11 U1 - http://www.ncbi.nlm.nih.gov/pubmed/26366554?dopt=Abstract ER -