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The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives
BACKGROUND: There is increasing evidence of the important role that small, isolated populations could play in finding genes involved in the etiology of diseases. For historical and political reasons, South Tyrol, the northern most Italian region, includes several villages of small dimensions which r...
Autores principales: | , , , , , , , , , , , , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
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BioMed Central
2007
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1913911/ https://www.ncbi.nlm.nih.gov/pubmed/17550581 http://dx.doi.org/10.1186/1471-2350-8-29 |
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author | Pattaro, Cristian Marroni, Fabio Riegler, Alice Mascalzoni, Deborah Pichler, Irene Volpato, Claudia B Dal Cero, Umberta De Grandi, Alessandro Egger, Clemens Eisendle, Agatha Fuchsberger, Christian Gögele, Martin Pedrotti, Sara Pinggera, Gerd K Stefanov, Stefan A Vogl, Florian D Wiedermann, Christian J Meitinger, Thomas Pramstaller, Peter P |
author_facet | Pattaro, Cristian Marroni, Fabio Riegler, Alice Mascalzoni, Deborah Pichler, Irene Volpato, Claudia B Dal Cero, Umberta De Grandi, Alessandro Egger, Clemens Eisendle, Agatha Fuchsberger, Christian Gögele, Martin Pedrotti, Sara Pinggera, Gerd K Stefanov, Stefan A Vogl, Florian D Wiedermann, Christian J Meitinger, Thomas Pramstaller, Peter P |
author_sort | Pattaro, Cristian |
collection | PubMed |
description | BACKGROUND: There is increasing evidence of the important role that small, isolated populations could play in finding genes involved in the etiology of diseases. For historical and political reasons, South Tyrol, the northern most Italian region, includes several villages of small dimensions which remained isolated over the centuries. METHODS: The MICROS study is a population-based survey on three small, isolated villages, characterized by: old settlement; small number of founders; high endogamy rates; slow/null population expansion. During the stage-1 (2002/03) genealogical data, screening questionnaires, clinical measurements, blood and urine samples, and DNA were collected for 1175 adult volunteers. Stage-2, concerning trait diagnoses, linkage analysis and association studies, is ongoing. The selection of the traits is being driven by expert clinicians. Preliminary, descriptive statistics were obtained. Power simulations for finding linkage on a quantitative trait locus (QTL) were undertaken. RESULTS: Starting from participants, genealogies were reconstructed for 50,037 subjects, going back to the early 1600s. Within the last five generations, subjects were clustered in one pedigree of 7049 subjects plus 178 smaller pedigrees (3 to 85 subjects each). A significant probability of familial clustering was assessed for many traits, especially among the cardiovascular, neurological and respiratory traits. Simulations showed that the MICROS pedigree has a substantial power to detect a LOD score ≥ 3 when the QTL specific heritability is ≥ 20%. CONCLUSION: The MICROS study is an extensive, ongoing, two-stage survey aimed at characterizing the genetic epidemiology of Mendelian and complex diseases. Our approach, involving different scientific disciplines, is an advantageous strategy to define and to study population isolates. The isolation of the Alpine populations, together with the extensive data collected so far, make the MICROS study a powerful resource for the study of diseases in many fields of medicine. Recent successes and simulation studies give us confidence that our pedigrees can be valuable both in finding new candidates loci and to confirm existing candidate genes. |
format | Text |
id | pubmed-1913911 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2007 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-19139112007-07-11 The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives Pattaro, Cristian Marroni, Fabio Riegler, Alice Mascalzoni, Deborah Pichler, Irene Volpato, Claudia B Dal Cero, Umberta De Grandi, Alessandro Egger, Clemens Eisendle, Agatha Fuchsberger, Christian Gögele, Martin Pedrotti, Sara Pinggera, Gerd K Stefanov, Stefan A Vogl, Florian D Wiedermann, Christian J Meitinger, Thomas Pramstaller, Peter P BMC Med Genet Research Article BACKGROUND: There is increasing evidence of the important role that small, isolated populations could play in finding genes involved in the etiology of diseases. For historical and political reasons, South Tyrol, the northern most Italian region, includes several villages of small dimensions which remained isolated over the centuries. METHODS: The MICROS study is a population-based survey on three small, isolated villages, characterized by: old settlement; small number of founders; high endogamy rates; slow/null population expansion. During the stage-1 (2002/03) genealogical data, screening questionnaires, clinical measurements, blood and urine samples, and DNA were collected for 1175 adult volunteers. Stage-2, concerning trait diagnoses, linkage analysis and association studies, is ongoing. The selection of the traits is being driven by expert clinicians. Preliminary, descriptive statistics were obtained. Power simulations for finding linkage on a quantitative trait locus (QTL) were undertaken. RESULTS: Starting from participants, genealogies were reconstructed for 50,037 subjects, going back to the early 1600s. Within the last five generations, subjects were clustered in one pedigree of 7049 subjects plus 178 smaller pedigrees (3 to 85 subjects each). A significant probability of familial clustering was assessed for many traits, especially among the cardiovascular, neurological and respiratory traits. Simulations showed that the MICROS pedigree has a substantial power to detect a LOD score ≥ 3 when the QTL specific heritability is ≥ 20%. CONCLUSION: The MICROS study is an extensive, ongoing, two-stage survey aimed at characterizing the genetic epidemiology of Mendelian and complex diseases. Our approach, involving different scientific disciplines, is an advantageous strategy to define and to study population isolates. The isolation of the Alpine populations, together with the extensive data collected so far, make the MICROS study a powerful resource for the study of diseases in many fields of medicine. Recent successes and simulation studies give us confidence that our pedigrees can be valuable both in finding new candidates loci and to confirm existing candidate genes. BioMed Central 2007-06-05 /pmc/articles/PMC1913911/ /pubmed/17550581 http://dx.doi.org/10.1186/1471-2350-8-29 Text en Copyright © 2007 Pattaro et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Article Pattaro, Cristian Marroni, Fabio Riegler, Alice Mascalzoni, Deborah Pichler, Irene Volpato, Claudia B Dal Cero, Umberta De Grandi, Alessandro Egger, Clemens Eisendle, Agatha Fuchsberger, Christian Gögele, Martin Pedrotti, Sara Pinggera, Gerd K Stefanov, Stefan A Vogl, Florian D Wiedermann, Christian J Meitinger, Thomas Pramstaller, Peter P The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives |
title | The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives |
title_full | The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives |
title_fullStr | The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives |
title_full_unstemmed | The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives |
title_short | The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives |
title_sort | genetic study of three population microisolates in south tyrol (micros): study design and epidemiological perspectives |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1913911/ https://www.ncbi.nlm.nih.gov/pubmed/17550581 http://dx.doi.org/10.1186/1471-2350-8-29 |
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