Logo del repository
  1. Home
 
Opzioni

The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives.

C. Pattaro
•
A. Riegler
•
D. Mascalzoni
altro
MARRONI, FABIO
2007
  • journal article

Periodico
BMC MEDICAL GENETICS
Abstract
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.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.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 > or = 3 when the QTL specific heritability is > or = 20\%.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.
DOI
10.1186/1471-2350-8-29
WOS
WOS:000247916900001
Archivio
http://hdl.handle.net/11390/1038595
info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-34547623796
http://dx.doi.org/10.1186/1471-2350-8-29
Diritti
metadata only access
Soggetti
  • Cluster Analysis, Com...

  • methods, Female, Gene...

  • Inborn

  • epidemiology/genetics...

  • genetics, Genetic

  • Population, Humans, I...

  • epidemiology, Lod Sco...

Scopus© citazioni
54
Data di acquisizione
Jun 2, 2022
Vedi dettagli
Web of Science© citazioni
55
Data di acquisizione
Mar 28, 2024
Visualizzazioni
5
Data di acquisizione
Apr 19, 2024
Vedi dettagli
google-scholar
Get Involved!
  • Source Code
  • Documentation
  • Slack Channel
Make it your own

DSpace-CRIS can be extensively configured to meet your needs. Decide which information need to be collected and available with fine-grained security. Start updating the theme to match your nstitution's web identity.

Need professional help?

The original creators of DSpace-CRIS at 4Science can take your project to the next level, get in touch!

Realizzato con Software DSpace-CRIS - Estensione mantenuta e ottimizzata da 4Science

  • Impostazioni dei cookie
  • Informativa sulla privacy
  • Accordo con l'utente finale
  • Invia il tuo Feedback