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

<p>Abstract</p> <p>Background</p> <p>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.</p> <p>Methods</p> <p>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.</p> <p>Results</p> <p>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%.</p> <p>Conclusion</p> <p>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.</p

Bilingualism and regional entrepreneurship

Entrepreneurship makes important contributions to both regional and national economies, however, entrepreneurship rates vary significantly across and within regions. We apply the communication accommodation theory lens to examine the role that bilingualism plays in regional entrepreneurship. We use aggregated firm and district level longitudinal data on eight north-eastern districts in the region of South Tyrol (Italy) during 2000-2015 and demonstrate positive direct effect of bilingualism on entrepreneurship activity and non-linear effect on business dynamics. Results can be generalizable to other European regions

Sustainable Development Options for the Chestnut Supply Chain in South Tyrol, Italy

Italy is the largest producer of table chestnuts in Europe. This study focuses on the chestnut supply chain in South Tyrol (Alto Adige/Sudtirol), a northern Italian province where chestnuts are currently of minor importance in relation to other crops such as apples and grapes. Nevertheless, a small number of chestnut farmers keep a historically rooted tradition alive. A detailed survey of the chestnut supply chain, involving interviews of 138 producers, 49 distributors and 272 consumers revealed the strengths and weaknesses of the local niche market. Moreover, it appeared that a significant production and marketing heterogeneity exists when analysing four sub-regions separately. Three different characteristics, regarding orchard management as well as purchasing and consumption habits, could be identified: (i) commercial chestnut production and direct sales around Merano; (ii) chestnut wood production around Bressanone; and (iii) the use of chestnut trails as spare time activities around Chiusa. New regional development strategies will therefore have to take into account the geographical disparities when trying to innovate a traditional agricultural activity