Heritability and Demographic Analyses in the Large Isolated Population of Val Borbera Suggest Advantages in Mapping Complex Traits Genes
Heritability and Demographic Analyses in the Large Isolated Population of Val Borbera Suggest Advantages in Mapping Complex Traits Genes Michela Traglia1., Cinzia Sala1., Corrado Masciullo1, Valeria Cverhova1, Francesca Lori1, Giorgio Pistis1, Silvia Bione1,4, Paolo Gasparini2, Sheila Ulivi2, Marina Ciullo3, Teresa Nutile3, Emanuele Bosi7, Marcella Sirtori8, Giovanna Mignogna8, Alessandro Rubinacci8, Iwan Buetti1, Clara Camaschella1, Enrico Petretto5,6, Daniela Toniolo1,4* 1 Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milano Italy, 2 Medical Genetics, Department of Laboratory Medicine, Institute for Maternal and Child Health IRCCS-Burlo Garofolo, Trieste, Italy, 3 Institute of Genetics and Biophysics’’Adriano Buzzati-Traverso’’, CNR, Napoli, Italy, 4 Institute of Molecular Genetics-CNR, Pavia, Italy, 5 MRC Clinical Sciences Centre, Imperial College Faculty of Medicine, London, United Kingdom, 6 Department of Epidemiology and Public Health, Imperial College Faculty of Medicine, London, United Kingdom, 7 Department of Internal Medicine, Diabetes & Endocrinology Unit, San Raffaele Scientific Institute, Milano, Italy, 8 Bone Metabolic Unit, San Raffaele Scientific Institute, Milano, Italy Abstract Background: Isolated populations are a useful resource for mapping complex traits due to shared stable environment, reduced genetic complexity and extended Linkage Disequilibrium (LD) compared to the general population. Here we describe a large genetic isolate from the North West Apennines, the mountain range that runs through Italy from the North West Alps to the South. Methodology/Principal Findings: The study involved 1,803 people living in 7 villages of the upper Borbera Valley. For this large population cohort, data from genealogy reconstruction, medical questionnaires, blood, anthropometric and bone status QUS parameters were evaluated. Demographic and epidemiological analyses indicated a substantial genetic component contributing to each trait variation as well as overlapping genetic determinants and family clustering for some traits.
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