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.

Sazzini, M., Gnecchi Ruscone, G.A., Giuliani, C., Sarno, S., Quagliariello, A., De Fanti, S., et al. (2016). Complex interplay between neutral and adaptive evolution shaped differential genomic background and disease susceptibility along the Italian peninsula. SCIENTIFIC REPORTS, 6, 1-11 [10.1038/srep32513].

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

SAZZINI, MARCO;GNECCHI RUSCONE, GUIDO ALBERTO;GIULIANI, CRISTINA;SARNO, STEFANIA;QUAGLIARIELLO, ANDREA;DE FANTI, SARA;BOATTINI, ALESSIO;FRANCESCHI, CLAUDIO;PETTENER, DAVIDE;GARAGNANI, PAOLO;LUISELLI, DONATA
2016

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.
2016
Sazzini, M., Gnecchi Ruscone, G.A., Giuliani, C., Sarno, S., Quagliariello, A., De Fanti, S., et al. (2016). Complex interplay between neutral and adaptive evolution shaped differential genomic background and disease susceptibility along the Italian peninsula. SCIENTIFIC REPORTS, 6, 1-11 [10.1038/srep32513].
Sazzini, Marco; Gnecchi Ruscone, Guido Alberto; Giuliani, Cristina; Sarno, Stefania; Quagliariello, Andrea; De Fanti, Sara; Boattini, Alessio; Gentili...espandi
File in questo prodotto:
File Dimensione Formato  
Sazzini et al. 2016_srep32513.pdf

accesso aperto

Tipo: Versione (PDF) editoriale
Licenza: Licenza per Accesso Aperto. Creative Commons Attribuzione (CCBY)
Dimensione 941.58 kB
Formato Adobe PDF
941.58 kB Adobe PDF Visualizza/Apri
srep32513-s1.doc

accesso aperto

Descrizione: Supplementary Information
Tipo: File Supplementare
Licenza: Licenza per Accesso Aperto. Creative Commons Attribuzione (CCBY)
Dimensione 1.59 MB
Formato Microsoft Word
1.59 MB Microsoft Word Visualizza/Apri
srep32513-s2.xls

accesso aperto

Descrizione: Supplementary Tables S2-s3
Tipo: File Supplementare
Licenza: Licenza per Accesso Aperto. Creative Commons Attribuzione (CCBY)
Dimensione 1.01 MB
Formato Microsoft Excel
1.01 MB Microsoft Excel Visualizza/Apri
srep32513-s3.xls

accesso aperto

Descrizione: Supplementary Table S4
Tipo: File Supplementare
Licenza: Licenza per Accesso Aperto. Creative Commons Attribuzione (CCBY)
Dimensione 886 kB
Formato Microsoft Excel
886 kB Microsoft Excel Visualizza/Apri
srep32513-s4.xls

accesso aperto

Descrizione: Supplementary Dataset
Tipo: File Supplementare
Licenza: Licenza per Accesso Aperto. Creative Commons Attribuzione (CCBY)
Dimensione 394 kB
Formato Microsoft Excel
394 kB Microsoft Excel Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/566073
Citazioni
  • ???jsp.display-item.citation.pmc??? 24
  • Scopus 40
  • ???jsp.display-item.citation.isi??? 39
social impact