Population Isolates in South Tyrol and Their Value for Genetic Dissection of Complex Diseases

Summary The study of genetic isolates is a promising approach for the study of complex genetic traits. The small and constant population size, lack of migration, and multiple relationships between individuals in the isolate population could reduce the genetic diversity, and lead to increased levels...

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Bibliographic Details
Published in:Annals of human genetics 2006-11, Vol.70 (6), p.812-821
Main Authors: Marroni, F., Pichler, I., De Grandi, A., Beu Volpato, C., Vogl, F. D., Pinggera, G. K., Bailey‐Wilson, J. E., Pramstaller, P. P.
Format: Article
Language:English
Subjects:
Adult
Chromosomes, Human, X
Demography
Founder Effect
Genetic Predisposition to Disease
Genetic Variation
Genetics, Population
Humans
Italy
Linkage Disequilibrium
Male
Microsatellite Repeats
Phylogeny
population isolates
X chromosome
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Summary:Summary The study of genetic isolates is a promising approach for the study of complex genetic traits. The small and constant population size, lack of migration, and multiple relationships between individuals in the isolate population could reduce the genetic diversity, and lead to increased levels of linkage disequilibrium (LD). We studied the extent of LD on Xq13 in six population isolates from South Tyrol in the Eastern Italian Alps. We found different levels of LD in our study samples, probably reflecting their degrees of isolation and their demographic histories. The highest values were obtained in Val Gardena (ranking among the highest levels of LD in Europe) and in Stelvio, which qualified as a microisolate according to historical information, and biodemographic and genealogical criteria. Phylogenetic analysis revealed that the two Ladin‐speaking populations are genetically distant from each other, and from their German‐speaking neighbours, and are characterized by a smaller effective population size than the neighbouring valleys. These peculiar characteristics suggest that South Tyrol could be a unique resource for the study of complex diseases, showing all the characteristics of isolated populations with the advantage of including, in a fairly homogeneous environment, two genetically differentiated sub‐populations. This could allow investigators to gain an insight into the contribution of genetic heterogeneity in complex diseases.
ISSN:0003-4800
1469-1809
DOI:10.1111/j.1469-1809.2006.00274.x