Heritability and demographic analyses in the large isolated population of val borbera suggest advantages in mapping complex traits genes

Michela Traglia, Cinzia Sala, Corrado Masciullo, Valeria Cverhova, Francesca Lori, Giorgio Pistis, Silvia Bione, Paolo Gasparini, Sheila Ulivi, Marina Ciullo, Teresa Nutile, Emanuele Bosi, Marcella Sirtori, Giovanna Mignogna, Alessandro Rubinacci, Iwan Buetti, Clara Camaschella, Enrico Petretto, Daniela Toniolo

Research output: Contribution to journalArticlepeer-review

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. Conclusions/Significance: The data provide evidence for significant heritability of medical relevant traits that will be important in mapping quantitative traits. We suggest that this population isolate is suitable to identify rare variants associated with complex phenotypes that may be difficult to study in larger but more heterogeneous populations.

Original languageEnglish
Article numbere7554
JournalPLoS One
Volume4
Issue number10
DOIs
Publication statusPublished - Oct 22 2009

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

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