title: The Italian genome reflects the history of Europe and the Mediterranean basin.
abstract: Recent scientific literature has highlighted the relevance of population genetic studies both for disease association mapping in admixed populations and for understanding the history of human migrations. Deeper insight into the history of the Italian population is critical for understanding the peopling of Europe. Because of its crucial position at the centre of the Mediterranean basin, the Italian peninsula has experienced a complex history of colonization and migration whose genetic signatures are still present in contemporary Italians. In this study, we investigated genomic variation in the Italian population using 2.5 million single-nucleotide polymorphisms in a sample of more than 300 unrelated Italian subjects with well-defined geographical origins. We combined several analytical approaches to interpret genome-wide data on 1272 individuals from European, Middle Eastern, and North African populations. We detected three major ancestral components contributing different proportions across the Italian peninsula, and signatures of continuous gene flow within Italy, which have produced remarkable genetic variability among contemporary Italians. In addition, we have extracted novel details about the Italian population's ancestry, identifying the genetic signatures of major historical events in Europe and the Mediterranean basin from the Neolithic (e.g., peopling of Sardinia) to recent times (e.g., 'barbarian invasion' of Northern and Central Italy). These results are valuable for further genetic, epidemiological and forensic studies in Italy and in Europe.
authors.affiliation: Department of Medical Sciences, University of Turin, Turin, Italy.|HuGeF Human Genetics Foundation, Turin, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Fiorito
authors.affiliation: Department of Medical Sciences, University of Turin, Turin, Italy.|HuGeF Human Genetics Foundation, Turin, Italy.
authors.forename: Cornelia
authors.identifier: 0000-0001-6975-2831
authors.initials: C
authors.lastname: Di Gaetano
authors.affiliation: Department of Medical Sciences, University of Turin, Turin, Italy.|HuGeF Human Genetics Foundation, Turin, Italy.
authors.forename: Simonetta
authors.identifier: 0000-0003-4400-1817
authors.initials: S
authors.lastname: Guarrera
authors.affiliation: HuGeF Human Genetics Foundation, Turin, Italy.
authors.forename: Fabio
authors.initials: F
authors.lastname: Rosa
authors.affiliation: Department of Biology, Stanford University, Stanford, CA, USA.
authors.forename: Marcus W
authors.initials: MW
authors.lastname: Feldman
authors.affiliation: Department of Medical Sciences, University of Turin, Turin, Italy.|HuGeF Human Genetics Foundation, Turin, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Piazza
authors.affiliation: Department of Medical Sciences, University of Turin, Turin, Italy.|HuGeF Human Genetics Foundation, Turin, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Matullo
mesh_terms: D044383:Black People / Q000235:genetics*; D014644:Genetic Variation; D015894:Genome, Human; D063426:Human Migration; D006801:Humans; D007558:Italy; D019083:Mediterranean Region; D044465:White People / Q000235:genetics*