ArticlePloS one2009
Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genes.
Article in PloS one, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled it.
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Who cites it
22 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Meta-GWAS and Meta-Analysis of Exome Array Studies Do Not Reveal Genetic Determinants of Serum Hepcidin.PloS one · 2016Pooled it
- A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.PLoS genetics · 2012Pooled it
- Serum levels of the hepcidin-20 isoform in a large general population: the Val Borbera study.Journal of proteomics · 2012Trial
- Familial Aggregation Patterns, Spousal Resemblance, and Family-Based Heritability of Adiposity-Related Traits: Insights from Tehran Cardiometabolic and Genetic Study (TCGS).Behavior genetics · 2025Article
- The Tehran longitudinal family-based cardiometabolic cohort study sheds new light on dyslipidemia transmission patterns.Scientific reports · 2024Article
- Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates.European journal of human genetics : EJHG · 2021Article
- Detecting the dominance component of heritability in isolated and outbred human populations.Scientific reports · 2018Article
- Fertility Preservation in Endometriosis Patients: Anti-Müllerian Hormone Is a Reliable Marker of the Ovarian Follicle Density.Frontiers in surgery · 2017Article
- Common variants in CLDN14 are associated with differential excretion of magnesium over calcium in urine.Pflugers Archiv : European journal of physiology · 2017Review
- Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers.Nature genetics · 2015Article
- A Phenomic Scan of the Norfolk Island Genetic Isolate Identifies a Major Pleiotropic Effect Locus Associated with Metabolic and Renal Disorder Markers.PLoS genetics · 2015Article
- Who are the Okinawans? Ancestry, genome diversity, and implications for the genetic study of human longevity from a geographically isolated population.The journals of gerontology. Series A, Biological sciences and medical sciences · 2014Article
- Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.Nature communications · 2014Article
- A general approach for haplotype phasing across the full spectrum of relatedness.PLoS genetics · 2014Article
- Small effective population size and genetic homogeneity in the Val Borbera isolate.European journal of human genetics : EJHG · 2013Article
- Genome wide association analysis of a founder population identified TAF3 as a gene for MCHC in humans.PloS one · 2013Article
- Age- and sex-related variations in platelet count in Italy: a proposal of reference ranges based on 40987 subjects' data.PloS one · 2013Article
- CYBRD1 as a modifier gene that modulates iron phenotype in HFE p.C282Y homozygous patients.Haematologica · 2012Article
- Genetic and environmental factors influencing the Placental Growth Factor (PGF) variation in two populations.PloS one · 2012Article
- White blood cell count, sex and age are major determinants of heterogeneity of platelet indices in an adult general population: results from the MOLI-SANI project.Haematologica · 2011Article
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Authors and funding
19 authors.
Funding
Abstract
backgroundIsolated 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
findingsThe 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.
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