Research Project
7942300
Because the incidence of age-related diseases generally doubles with every 10 years of life, the identification of genes associated with risk of a disease can provide a route to early diagnosis and possible points of intervention. The SardiNIA Population Study 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 comprise a range of cardiovascular risk factors, Obesity/ Body Mass Index, blood test values including levels of proteins involved in Immunology and Inflammation, height, and facets of personality. With this cohort, Genome Wide Association Study (GWAS) and Bioinformatics are being done to point to genes/variants that determine a significant portion of the genetic contribution to each trait studied, including obesity, cardiovascular traits, levels of lipids and blood components, and Women's Health Issues - Menopause. In addition, third visits are being 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 Women's Health Issues - Other, breast cancer and autoimmune diseases, all of which have a very high incidence on the island.
