Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers.
Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers.
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DOI：
10.1038/ng.3368
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发表时间：
2015-11
期刊：
影响因子：
30.8
通讯作者：
Abecasis GR
中科院分区：
文献类型：
--
作者：
Sidore C;Busonero F;Maschio A;Porcu E;Naitza S;Zoledziewska M;Mulas A;Pistis G;Steri M;Danjou F;Kwong A;Ortega Del Vecchyo VD;Chiang CWK;Bragg-Gresham J;Pitzalis M;Nagaraja R;Tarrier B;Brennan C;Uzzau S;Fuchsberger C;Atzeni R;Reinier F;Berutti R;Huang J;Timpson NJ;Toniolo D;Gasparini P;Malerba G;Dedoussis G;Zeggini E;Soranzo N;Jones C;Lyons R;Angius A;Kang HM;Novembre J;Sanna S;Schlessinger D;Cucca F;Abecasis GR
We report ~17.6M genetic variants from whole-genome sequencing of 2,120 Sardinians; 22% are absent from prior sequencing-based compilations and enriched for predicted functional consequence. Furthermore, ~76K 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. Fourteen signals, including two major new loci, were observed for lipid levels, and 19, including two novel loci, for inflammatory markers. New associations would be missed in analyses based on 1000 Genomes data, underlining the advantages of large-scale sequencing in this founder population.
