Reconstructing the genetic history of Italians: new insights from a male (Y-chromosome) perspective

Abstract

Background: Due to its central and strategic position in Europe and in the Mediterranean Basin, the Italian Peninsula played a pivotal role in the first peopling of the European continent and has been a crossroad of peoples and cultures since then.

Aim: This study aims to gain more information on the genetic structure of modern Italian populations and to shed light on the migration/expansion events that led to their formation.

Subjects and methods: High resolution Y-chromosome variation analysis in 817 unrelated males from 10 informative areas of Italy was performed. Haplogroup frequencies and microsatellite haplotypes were used, together with available data from the literature, to evaluate Mediterranean and European inputs and date their arrivals.

Results: Fifty-three distinct Y-chromosome lineages were identified. Their distribution is in general agreement with geography, southern populations being more differentiated than northern ones.

Conclusions: A complex genetic structure reflecting the multifaceted peopling pattern of the Peninsula emerged: southern populations show high similarity with those from the Middle East and Southern Balkans, while those from Northern Italy are close to populations of North-Western Europe and the Northern Balkans. Interestingly, the population of Volterra, an ancient town of Etruscan origin in Tuscany, displays a unique Y-chromosomal genetic structure.

Keywords:

• Y-chromosome variation
• haplogroups
• genetic history of Italy
• Italian population

Acknowledgements

The authors are grateful to all the donors for providing biological specimens and acknowledge two anonymous reviewers for valuable suggestions and comments on the manuscript. This study is part of the University of Pavia strategic theme ‘Towards a governance model for international migration: an interdisciplinary and diachronic perspective’ (MIGRAT-IN-G) (to A.O., A.A., O.S. and A.T.).

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.

Additional information

Funding

This work was funded by Ministero dell'Istruzione, dell'Università e della Ricerca [RBFR126B8I (to A.O. and A.A.)].