Italian Genome Project (IGP)


The goal of this project is to define with more accuracy the Italian population genetic structure using well-selected samples .This work will describe the genetic make-up of Italy.

Prof. Giuseppe Matullo, Prof. Alberto Piazza, Prof. Luigi Luca Cavalli-Sforza.

HuGeF-Università di Torino: Cornelia Di Gaetano, Giovanni Fiorito, Simonetta Guarrera.

We have collected more than 1,000 individuals from 14 Italian regions. Three hundreds of these individuals were genotyped for 1 to 2.5 million single nucleotide polymorphisms (SNPs). A scientific work was produced, much of this work has enabled us to reconstruct the origins and migrations of the Italian population [1]. The work has allowed us to reconfirm the genetic peculiarities of Sardinia [2], and the absence of genetic barriers within the "Italian peninsula". It also confirmed that the structure of the Italian population was created by isolation by distance and that two different migratory events both as a time frame that as a direction of migration flows that have affected our country. Some of the samples collected in this study were included in a database medical forensic [3]. Another result of this work was the search for genetic signatures of the presence of the Lombards in Northern Italy using ancient and modern DNA samples [4].

Create a catalog of genetic variation in Italiy to use as:
A reference dataset to describe the genetic structure of the Italian population
Reference in the practice of medical genetics for the evaluation of specific allele frequencies and calculation of attributable risk to the population in regions with a high incidence of genetic disorders (eg thalassemia, cystic fibrosis, etc.)
In addition, the extracted DNA will represent a resource durable over time.
The technologies of the DNA analysis will continue to improve in terms of precision, volumes of data generated, and costs will continue to decrease, therefore expect to be able to increase the number of markers to be studied, or to sequence entire regions of the genome of the Italians involved in pathologies.
Finally, data produced until now will be the core of a larger database and several research groups have agreed to help by sharing with us their data.

Main references

1 Fiorito G , Di Gaetano C, Guarrera S,Rosa F, Feldman MW, Piazza A,Matullo G. The Italian Genome as a mirror of several historical events across Europe and the Mediterranean basin (manuscript submitted)
2. Di Gaetano C, Fiorito G, Ortu M.F, Rosa F, Guarrera S et al. (2013) Sardinians Genetic Background Explained by Runs of Homozygosity and Genomic Regions under Positive Selection. PLoS One 9: e91237
3. Robino C, Ralf A, Pasino S, De Marchi MR, Ballantyne KN, et al. (2015) Development of an Italian RM Y-STR haplotype database: Results of the 2013 GEFI collaborative exercise. Forensic Sci Int Genet 15: 56-63.
4. Vai S, Ghirotto S, Pilli E, Tassi F, Lari M, et al. (2015) Genealogical relationships between early medieval and modern inhabitants of Piedmont. PLoS One 10: e0116801.