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

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.

%B Nat Genet %V 47 %P 1272-81 %8 2015 Nov %G eng %N 11 %1 http://www.ncbi.nlm.nih.gov/pubmed/26366554?dopt=Abstract %R 10.1038/ng.3368