My NCBI Sign In
Jump to: Authorized Access | Attribution | Authorized Requests

Study Description

The SardiNIA Medical Sequencing Discovery Project is a study of the genetics of blood lipid levels and personality in a Sardinian population cohort. The project will generate draft genome sequences for 1,000 individuals using whole genome shotgun sequencing. The draft sequences will allow investigators to evaluate the contribution of common (frequency >5.0%) and rare (frequency 0.5 - 5.0%) single nucleotide polymorphisms, short insertions and deletions, large copy number polymorphisms and other structural variants to blood levels of low density lipoprotein cholesterol (LDL-c), high density lipoprotein cholesterol (HDL-c) and triglycerides (TG), all of which are key risk factors for cardiovascular disease, and to the 5 domains of personality as assessed by NEO-PI-R questionnaire. The two traits represent different ends of the spectrum of medically interesting complex traits. Blood lipid levels are risk factor for cardiovascular disease for which genetic studies have been very successful. In contrast, personality traits and other behavioral phenotypes represent a set of phenotypes that have proven more challenging to dissect using standard genetic tools. In both cases, we expect whole genome sequencing to improve our understanding of the underlying biology.

The isolated Sardinian population is ideal for this type of study for several reasons, and in particular because: (i) the bottleneck that occurred after colonization of the island attenuated natural selection against alleles with phenotypic consequences, increasing the odds that functional alleles will reach modest frequencies (0.5 - 5.0%) and will be detected in the present study and (ii) sharing of long haplotype stretches surrounding rare variants will facilitate imputation based analyses of shotgun sequence data, which improve the accuracy of individual genotype calls and thus increase power.

This research helps advance NIH's mission by furthering our understanding of the genetic factors contributing to blood lipid levels and coronary heart disease and to personality, behavior and mental health. In addition, these data should facilitate development of analysis tools and strategies that can be used to study the genomes of hundreds to thousands of individuals and further our understanding of the genetics and biology of many different traits and conditions.

  • Study Weblink: SardiNIA Sequencing Study
  • Study Types: Family, Population
  • Number of study subjects that have individual level data available through Authorized Access: 121

Authorized Access
Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. If available, the site also contains data dictionaries, variable summaries, documents, and truncated analyses.

Study Inclusion/Exclusion Criteria

All individuals selected for sequencing were 21 years and older.

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Genome Sequencing Illumina Genome Analyzer IIX N/A N/A
Whole Genome Sequencing Illumina HiSeq 2000 N/A N/A
Study History

Phenotypic Assessments:
2001-2004: Initial Participant Recruitment
2005-2007: 2nd Evaluation of Study Participants
2008-2010: 3rd Evaluation of Study Participants

Genotypic Assessments:
2005-2006: Initial round of Genomewide Genotyping, Affymetrix 10K and 500K arrays
2009-2011: Initial round of Genomewide Sequencing

Key Publications:
2006: Summary of Phenotypic Assessments Published (Pilia et al, 2006)
2007: First Genomewide Association Study Results (Scuteri et al, 2007)
2008: First Genomewide Association Meta-Analyses (Sanna et al, 2008, Willer et al, 2008)
2009-2010: Continuing Genomewide Analyses

Selected publications
Diseases/Traits Related to Study (MESH terms)
Authorized Data Access Requests
Study Attribution