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Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers.
Sidore, Carlo; Busonero, Fabio; Maschio, Andrea; Porcu, Eleonora; Naitza, Silvia; Zoledziewska, Magdalena; Mulas, Antonella; Pistis, Giorgio; Steri, Maristella; Danjou, Fabrice; Kwong, Alan; Ortega Del Vecchyo, Vicente Diego; Chiang, Charleston W K; Bragg-Gresham, Jennifer; Pitzalis, Maristella; Nagaraja, Ramaiah; Tarrier, Brendan; Brennan, Christine; Uzzau, Sergio; Fuchsberger, Christian; Atzeni, Rossano; Reinier, Frederic; Berutti, Riccardo; Huang, Jie; Timpson, Nicholas J; Toniolo, Daniela; Gasparini, Paolo; Malerba, Giovanni; Dedoussis, George; Zeggini, Eleftheria; Soranzo, Nicole; Jones, Chris; Lyons, Robert; Angius, Andrea; Kang, Hyun M; Novembre, John; Sanna, Serena; Schlessinger, David; Cucca, Francesco; Abecasis, Gonçalo R.
Affiliation
  • Sidore C; Istituto di Ricerca Genetica e Biomedica, CNR, Monserrato, Cagliari, Italy.
  • Busonero F; Center for Statistical Genetics, Ann Arbor, University of Michigan, MI, USA.
  • Maschio A; Università degli Studi di Sassari, Sassari, Italy.
  • Porcu E; Istituto di Ricerca Genetica e Biomedica, CNR, Monserrato, Cagliari, Italy.
  • Naitza S; Center for Statistical Genetics, Ann Arbor, University of Michigan, MI, USA.
  • Zoledziewska M; University of Michigan, DNA Sequencing Core, Ann Arbor, MI, USA.
  • Mulas A; Istituto di Ricerca Genetica e Biomedica, CNR, Monserrato, Cagliari, Italy.
  • Pistis G; Center for Statistical Genetics, Ann Arbor, University of Michigan, MI, USA.
  • Steri M; University of Michigan, DNA Sequencing Core, Ann Arbor, MI, USA.
  • Danjou F; Istituto di Ricerca Genetica e Biomedica, CNR, Monserrato, Cagliari, Italy.
  • Kwong A; Center for Statistical Genetics, Ann Arbor, University of Michigan, MI, USA.
  • Ortega Del Vecchyo VD; Università degli Studi di Sassari, Sassari, Italy.
  • Chiang CWK; Istituto di Ricerca Genetica e Biomedica, CNR, Monserrato, Cagliari, Italy.
  • Bragg-Gresham J; Istituto di Ricerca Genetica e Biomedica, CNR, Monserrato, Cagliari, Italy.
  • Pitzalis M; Istituto di Ricerca Genetica e Biomedica, CNR, Monserrato, Cagliari, Italy.
  • Nagaraja R; Università degli Studi di Sassari, Sassari, Italy.
  • Tarrier B; Istituto di Ricerca Genetica e Biomedica, CNR, Monserrato, Cagliari, Italy.
  • Brennan C; Center for Statistical Genetics, Ann Arbor, University of Michigan, MI, USA.
  • Uzzau S; Università degli Studi di Sassari, Sassari, Italy.
  • Fuchsberger C; Istituto di Ricerca Genetica e Biomedica, CNR, Monserrato, Cagliari, Italy.
  • Atzeni R; Istituto di Ricerca Genetica e Biomedica, CNR, Monserrato, Cagliari, Italy.
  • Reinier F; Center for Statistical Genetics, Ann Arbor, University of Michigan, MI, USA.
  • Berutti R; Interdepartmental Program in Bioinformatics, University of California - Los Angeles, CA,USA.
  • Huang J; Department of Ecology and Evolutionary Biology, University of California, Los Angeles, CA, USA.
  • Timpson NJ; Center for Statistical Genetics, Ann Arbor, University of Michigan, MI, USA.
  • Toniolo D; Istituto di Ricerca Genetica e Biomedica, CNR, Monserrato, Cagliari, Italy.
  • Gasparini P; Laboratory of Genetics, National Institute on Aging, National Institutes of Health, Baltimore, MD, USA.
  • Malerba G; University of Michigan, DNA Sequencing Core, Ann Arbor, MI, USA.
  • Dedoussis G; University of Michigan, DNA Sequencing Core, Ann Arbor, MI, USA.
  • Zeggini E; Porto Conte Ricerche srl, Tramariglio, Alghero, 07041 Italy.
  • Soranzo N; Center for Statistical Genetics, Ann Arbor, University of Michigan, MI, USA.
  • Jones C; Center for Advanced Studies, Research, and Development in Sardinia (CRS4), AGCT Program, Parco Scientifico e tecnologico della Sardegna, Pula, Italy.
  • Lyons R; Center for Advanced Studies, Research, and Development in Sardinia (CRS4), AGCT Program, Parco Scientifico e tecnologico della Sardegna, Pula, Italy.
  • Angius A; Università degli Studi di Sassari, Sassari, Italy.
  • Kang HM; Center for Advanced Studies, Research, and Development in Sardinia (CRS4), AGCT Program, Parco Scientifico e tecnologico della Sardegna, Pula, Italy.
  • Novembre J; Human Genetics, Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, CB10 1HH.
  • Sanna S; MRC Integrative Epidemiology Unit at the University of Bristol, University of Bristol, Bristol, United Kingdom.
  • Schlessinger D; Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milano, Italy.
  • Cucca F; DSM-University of Trieste and IRCCS-Burlo Garofolo Children Hospital (Trieste, Italy).
  • Abecasis GR; Experimental Genetics Division, Sidra, (Doha, Qatar).
Nat Genet ; 47(11): 1272-1281, 2015 Nov.
Article in En | MEDLINE | ID: mdl-26366554
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Biomarkers / Genome, Human / Sequence Analysis, DNA / Genome-Wide Association Study / Lipids Type of study: Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Country/Region as subject: Europa Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2015 Document type: Article Affiliation country: Italia
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Biomarkers / Genome, Human / Sequence Analysis, DNA / Genome-Wide Association Study / Lipids Type of study: Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Country/Region as subject: Europa Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2015 Document type: Article Affiliation country: Italia