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 1,000,000 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 the past year, a number of studies have been completed on levels of blood components and of lipids and anthropometric measures. They included the finding of 95 genes involved in the determination of height, and significant genes involved in determining the levels of vitamin B6, vitamin B12, folate, homocysteine, and uric acid: the identification of cardiovascular risk factors that include phospholambin in cardiac repolarization, Col4A1 in arterial stiffness, loci for blood pressure, many affecting adiposity; and findings of personality facets affecting under- and over-weight. In addition, third visits are in process 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 breast cancer and autoimmune diseases, all of which have a very high incidence on the island. In an initial report on multiple sclerosis, a gene was identified (CBLB) that regulates the level of the immune response both in patients in Sardinia and in other populations and in a mouse model for the disease.

National Institute of Health (NIH)
National Institute on Aging (NIA)
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Olivieri, Anna; Sidore, Carlo; Achilli, Alessandro et al. (2017) Mitogenome Diversity in Sardinians: A Genetic Window onto an Island's Past. Mol Biol Evol 34:1230-1239
Böger, Carsten A; Gorski, Mathias; McMahon, Gearoid M et al. (2017) NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality. J Am Soc Nephrol 28:2311-2321
Hinney, A; Kesselmeier, M; Jall, S et al. (2017) Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index. Mol Psychiatry 22:321-322
Hinney, A; Kesselmeier, M; Jall, S et al. (2017) Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index. Mol Psychiatry 22:192-201
Steri, Maristella; Orrù, Valeria; Idda, M Laura et al. (2017) Overexpression of the Cytokine BAFF and Autoimmunity Risk. N Engl J Med 376:1615-1626
Pala, Mauro; Zappala, Zachary; Marongiu, Mara et al. (2017) Population- and individual-specific regulatory variation in Sardinia. Nat Genet 49:700-707
Justice, Anne E (see original citation for additional authors) (2017) Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. Nat Commun 8:14977
Winkler, Thomas W (see original citation for additional authors) (2016) Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. PLoS Genet 12:e1006166
Delitala, Alessandro P; Steri, Maristella; Pilia, Maria Grazia et al. (2016) Menopause modulates the association between thyrotropin levels and lipid parameters: The SardiNIA study. Maturitas 92:30-34
Barban, Nicola (see original citation for additional authors) (2016) Genome-wide analysis identifies 12 loci influencing human reproductive behavior. Nat Genet 48:1462-1472

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