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

Title: Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genes
Authors: Traglia, M
Sala, C
Masciullo, C
Cverhova, V
Lori, F
Pistis, G
Bione, S
Gasparini, P
Ulivi, S
Ciullo, M
Nutile, T
Bosi, E
Sirtori, M
Mignogna, G
Rubinacci, A
Buetti, I
Camaschella, C
Petretto, E
Toniolo, D
Item 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.
Issue Date: 22-Oct-2009
Date of Acceptance: 5-Aug-2009
URI: http://hdl.handle.net/10044/1/57204
DOI: https://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/).
Keywords: 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
Chromosome Mapping
Cluster Analysis
Cohort Studies
Demography
Female
Gene Frequency
Genetic Variation
Genetics, Population
Geography
Humans
Italy
Linkage Disequilibrium
Male
Phenotype
Population Groups
MD Multidisciplinary
General Science & Technology
Publication Status: Published
Article Number: ARTN e7554
Appears in Collections:Clinical Sciences
Molecular Sciences
Faculty of Medicine



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