Complex interplay between neutral and adaptive evolution shaped differential genomic background and disease susceptibility along the Italian peninsula

Marco Sazzini, Guido Alberto Gnecchi Ruscone, Cristina Giuliani, Stefania Sarno, Andrea Quagliariello, Sara De Fanti, Alessio Boattini, Davide Gentilini, Giovanni Fiorito, Maria Grazia Catanoso, Luigi Boiardi, Stefania Croci, P. Macchioni, W. Mantovani, Anna Maria Di Blasio, G. Matullo, Carlo Salvarani, Claudio Franceschi, Davide Pettener, Paolo GaragnaniDonata Luiselli

Research output: Contribution to journalArticlepeer-review

Abstract

The Italian peninsula has long represented a natural hub for human migrations across the Mediterranean area, being involved in several prehistoric and historical population movements. Coupled with a patchy environmental landscape entailing different ecological/cultural selective pressures, this might have produced peculiar patterns of population structure and local adaptations responsible for heterogeneous genomic background of present-day Italians. To disentangle this complex scenario, genome-wide data from 780 Italian individuals were generated and set into the context of European/Mediterranean genomic diversity by comparison with genotypes from 50 populations. To maximize possibility of pinpointing functional genomic regions that have played adaptive roles during Italian natural history, our survey included also ∼250,000 exomic markers and ∼20,000 coding/regulatory variants with well-established clinical relevance. This enabled fine-grained dissection of Italian population structure through the identification of clusters of genetically homogeneous provinces and of genomic regions underlying their local adaptations. Description of such patterns disclosed crucial implications for understanding differential susceptibility to some inflammatory/autoimmune disorders, coronary artery disease and type 2 diabetes of diverse Italian subpopulations, suggesting the evolutionary causes that made some of them particularly exposed to the metabolic and immune challenges imposed by dietary and lifestyle shifts that involved western societies in the last centuries.

Original languageEnglish
Article number32513
JournalScientific Reports
Volume6
DOIs
Publication statusPublished - Sep 1 2016

ASJC Scopus subject areas

  • General

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