The SardiNIA study population cohort comprises over 6,100 subjects, aged 14-102, from a cluster of four towns in Sardinia. The study has been measuring >200 dichotomized traits (smoking, etc.) and 98 quantitative traits (endophenotypes or quantitative risk-related genetic or environmental factors) that can be scored on a continuous scale. Traits of special interest include a range of cardiovascular risk factors, anthropometric measurements, blood test values, and facets of personality.? With this cohort, full-genome scans with batteries of up to 500,000 single-nucleotide markers were conducted, and genome-wide association scans (GWAS) have pointed to genes/variants that determine a significant portion of the genetic contribution to variance for each trait studied. In conjunction with consortium efforts on other population cohorts, including the Baltimore Longitudinal Study of Aging and the InCHIANTI study supported by the NIA, an increasing number of publications have resulted that identify genes associated with obesity, cardiovascular traits, and levels of lipids and blood components. In particular, genes associated with uric acid as a cardiovascular risk factor and with HbF levels as a modulator of thalassemia/sickle cell disease severity have been identified. In addition, second visits are ongoing and third visits will be carried out for the study cohort to permit the assessment of longitudinal trends and outcomes, as well as the assessment of additional phenotypes related to bone density and frailty as a function of age. In a complementary approach, the genetic studies are being extended to clinical series of Sardinian patients and controls for several diseases, including autoimmune and cardiovascular diseases.
| Qian, Yong; Butler, Thomas J; Opsahl-Ong, Krista et al. (2017) fastMitoCalc: an ultra-fast program to estimate mitochondrial DNA copy number from whole-genome sequences. Bioinformatics 33:1399-1401 |
| Lango Allen, Hana (see original citation for additional authors) (2010) Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 467:832-8 |
| Terracciano, Antonio; Sutin, Angelina R; McCrae, Robert R et al. (2009) Facets of personality linked to underweight and overweight. Psychosom Med 71:682-9 |
