Maria Persico
Multifactorial diseases like cardiovascular diseases, tumors,
neurodegenerative disorders and diabetes are the more frequent cause of
morbidity and mortality in the undustrialized countries. One approach
useful to identify loci and genes responsible for complex diseases takes
advantage of populations of small villages that have been geographically
isolated for centuries. In Italy many small villages have been isolated
for centuries. We have initiated a project in twelve villages (Campora,
Gioi, Magliano, Moio della Civitella, Monteforte Cilento, Orria, Perito,
Salento, Stio Laurino, Valle dell'Angelo e Piaggine) situated on the hills
and mountains of the National Park of Cilento and Vallo of Diano, an area
in Southern Italy.
The main body of the project is the construction of a data base containing
the anagraphic data of each village from three centuries onward for the
generation of the genealogy, a dense genetic marker map of the DNA of each
individual, data describing the phenotype (health status) of each
individual and data on the environment and living habit. The
identification of disease genes includes: a first multiplex fluorescent-based genotyping using a set of 800-1000 satellite markers, choice of
chromosomal regions of interest by parametric linkage and non-parametric
allelic sharing, additional analysis with satellites and SNPs in the
chosen region. Finally gene hunting techniues will be use to identify the
genes of interest.
In particular, we have concentrated our work on the villages of Gioi
Cilento and Campora, that at the present have a population of 1200 and 600
residents, respectively, For these two villages, we have found documents
dating back to 1620 for Gioi and 1734 for Campora and we have collected
data on birth, marriage and family composition for the reconstruction of
the demographic and genealogical history. Information on the population
size, consanguinity, immigration, population expansion rate, age of the
village and number of founders are all essential for later analysis. Blood
collection, medical check up, anamnesi tests and DNA preparation have been
initiated in the village of Campora and will constitute the main work for
the coming months in the Park.
The first study will be the philogenetic analysis of the haplogroups and
of the linkage disequilibrium regions that will allow to analyze the
origin of the settlements and the migrations that gave origin to the
actual villages.
In particular, DNA of 100 unrelated individuals from each village will be
analyzed by mithocondrial, X and Y chromosome markers to define the degree
of homogeneity of the population and the number of founders of each
village.
The data base will be available to the scientific community for
collaboration for the hunting of the genes of interest.
Focus