Document Detail

Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genes.
MedLine Citation:
PMID:  19847309     Owner:  NLM     Status:  MEDLINE    
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.
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
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2009-10-22
Journal Detail:
Title:  PloS one     Volume:  4     ISSN:  1932-6203     ISO Abbreviation:  PLoS ONE     Publication Date:  2009  
Date Detail:
Created Date:  2009-10-22     Completed Date:  2010-03-12     Revised Date:  2014-02-19    
Medline Journal Info:
Nlm Unique ID:  101285081     Medline TA:  PLoS One     Country:  United States    
Other Details:
Languages:  eng     Pagination:  e7554     Citation Subset:  IM    
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MeSH Terms
Chromosome Mapping*
Cluster Analysis
Cohort Studies
Gene Frequency
Genetic Variation
Genetics, Population
Linkage Disequilibrium*
Population Groups / genetics
Grant Support
MC_U120097112//Medical Research Council

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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