Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 21, Issue 1, Pages 89-94Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2012.113
Keywords
genetic isolates; effective population size; linkage disequilibrium; mitochondrial DNA variation
Funding
- Fondazione Alma Mater Ticinensis
- Italian Ministry of the University FIRB-Futuro in Ricerca
- Progetti Ricerca Interesse Nazionale
- Compagnia di San Paolo, Torino
- Fondazione Cariplo, Milano
- Health Ministry Progetto Finalizzato
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Population isolates are a valuable resource for medical genetics because of their reduced genetic, phenotypic and environmental heterogeneity. Further, extended linkage disequilibrium (LD) allows accurate haplotyping and imputation. In this study, we use nuclear and mitochondrial DNA data to determine to what extent the geographically isolated population of the Val Borbera valley also presents features of genetic isolation. We performed a comparative analysis of population structure and estimated effective population size exploiting LD data. We also evaluated haplotype sharing through the analysis of segments of autozygosity. Our findings reveal that the valley has features characteristic of a genetic isolate, including reduced genetic heterogeneity and reduced effective population size. We show that this population has been subject to prolonged genetic drift and thus we expect many variants that are rare in the general population to reach significant frequency values in the valley, making this population suitable for the identification of rare variants underlying complex traits. European Journal of Human Genetics (2013) 21, 89-94; doi: 10.1038/ejhg.2012.113; published online 20 June 2012
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