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

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

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Biomarkers / blood*
  • Female
  • Founder Effect
  • Gene Frequency
  • Genetic Variation*
  • Genetics, Population
  • Genome, Human / genetics*
  • Genome-Wide Association Study / methods*
  • Genotype
  • Geography
  • Haplotypes
  • Humans
  • Inflammation Mediators / blood
  • Italy
  • Lipids / blood*
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Sequence Analysis, DNA / methods*
  • Young Adult

Substances

  • Biomarkers
  • Inflammation Mediators
  • Lipids