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  4. Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genes
 
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Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genes
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Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genes.pdf (439.09 KB)
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Author(s)
Traglia, Michela
Sala, Cinzia
Masciullo, Corrado
Cverhova, Valeria
Lori, Francesca
more
Type
Journal Article
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.
Date Issued
2009-10-22
Date Acceptance
2009-08-05
Citation
PLoS ONE, 2009, 4 (10)
URI
http://hdl.handle.net/10044/1/57204
DOI
https://www.dx.doi.org/10.1371/journal.pone.0007554
ISSN
1932-6203
Publisher
Public Library of Science (PLoS)
Journal / Book Title
PLoS ONE
Volume
4
Issue
10
Copyright Statement
© 2009 Traglia et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited (https://creativecommons.org/licenses/by/3.0/).
Identifier
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000271022000016&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
Subjects
Science & Technology
Multidisciplinary Sciences
Science & Technology - Other Topics
GENETICALLY ISOLATED POPULATION
ERASMUS RUCPHEN FAMILY
FOUNDER POPULATION
METABOLIC SYNDROME
SUSCEPTIBILITY LOCUS
QUANTITATIVE TRAITS
INSULIN-RESISTANCE
IRON OVERLOAD
VARIANTS
SARDINIA
Publication Status
Published
Article Number
ARTN e7554
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