Journal
NATURE GENETICS
Volume 47, Issue 11, Pages 1272-+Publisher
NATURE PORTFOLIO
DOI: 10.1038/ng.3368
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Funding
- National Human Genome Research Institute [HG005581, HG005552, HG006513, HG007022, HG007089]
- National Heart, Lung, and Blood Institute [HL117626]
- US National Institutes of Health, National Institute on Aging [N01-AG-1-2109, HHSN271201100005C]
- Sardinian Autonomous Region [cRP3-154]
- InterOmics MIUR Flagship Project [PB05]
- FaReBio 'Farmaci e Reti Biotecnologiche di Qualita'
- US National Institutes of Health National Research Service Award (NRSA) [F32GM106656]
- UC MEXUS/CONOCYT fellowship
- Wellcome Trust [WT091310, WT098051, 098051, WT091310/C/10/Z]
- European Union [257082, HEALTH-F5-2011-282510]
- National Institute for Health Research (NIHR) British Research Council (BRC)
- Ministero della Salute-Ricerca Finalizzata [PE-2011-02347500]
- Fondazione Cariplo (Italy)
- Ministry of Health
- Public Health Genomics Project
- European Research Council [ERC-2011-StG 280559-SEPI]
- Ricerca Finalizzata (Italy)
- Medical Research Council [MC_UU_12013/3] Funding Source: researchfish
- MRC [MC_UU_12013/3] Funding Source: UKRI
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We report similar to 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, similar to 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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