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Nat Genet. 2015 Nov;47(11):1272-1281. doi: 10.1038/ng.3368. Epub 2015 Sep 14.

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

Author information

1
Istituto di Ricerca Genetica e Biomedica, CNR, Monserrato, Cagliari, Italy.
2
Center for Statistical Genetics, Ann Arbor, University of Michigan, MI, USA.
3
Università degli Studi di Sassari, Sassari, Italy.
4
University of Michigan, DNA Sequencing Core, Ann Arbor, MI, USA.
5
Interdepartmental Program in Bioinformatics, University of California - Los Angeles, CA,USA.
6
Department of Ecology and Evolutionary Biology, University of California, Los Angeles, CA, USA.
7
Laboratory of Genetics, National Institute on Aging, National Institutes of Health, Baltimore, MD, USA.
8
Porto Conte Ricerche srl, Tramariglio, Alghero, 07041 Italy.
9
Center for Advanced Studies, Research, and Development in Sardinia (CRS4), AGCT Program, Parco Scientifico e tecnologico della Sardegna, Pula, Italy.
10
Human Genetics, Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, CB10 1HH.
11
MRC Integrative Epidemiology Unit at the University of Bristol, University of Bristol, Bristol, United Kingdom.
12
Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milano, Italy.
13
DSM-University of Trieste and IRCCS-Burlo Garofolo Children Hospital (Trieste, Italy).
14
Experimental Genetics Division, Sidra, (Doha, Qatar).
15
Department of Life and Reproduction Sciences, University of Verona, Verona, Italy.
16
Harokopio University Athens.
17
Department of Haematology, University of Cambridge, Hills Rd, Cambridge CB2 0AH.
18
Department of Human Genetics, University of Chicago, IL, USA.
#
Contributed equally

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.

PMID:
26366554
PMCID:
PMC4627508
DOI:
10.1038/ng.3368
[Indexed for MEDLINE]
Free PMC Article
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