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Nature Research, Nature Genetics, 11(47), p. 1272-1281, 2015

DOI: 10.1038/ng.3368

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Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers

Journal article published in 2015 by Carlo Sidore ORCID, Fabio Busonero, Andrea Maschio, Eleonora Porcu, Silvia Naitza, Magdalena Zoledziewska, Antonella Mulas, Giorgio Pistis, Maristella Steri ORCID, Fabrice Danjou ORCID, Alan Kwong, Vicente Diego Ortega Del Vecchyo, Vicente Diego Ortega del Vecchyo, Charleston W. K. Chiang ORCID, Jennifer Bragg-Gresham and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

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.