Inferring the genetic history of lactase persistence along the Italian peninsula from a large genomic interval surrounding the LCT gene

Sara De Fanti, Marco Sazzini, Cristina Giuliani, Federica Frazzoni, Stefania Sarno, Alessio Boattini, Elena Marasco, Vilma Mantovani, Claudio Franceschi, Pedro Moral, Paolo Garagnani, Donata Luiselli

Research output: Contribution to journalArticlepeer-review


Objective Although genetic variants related to lactase persistence in European populations were supposed to have firstly undergone positive selection in farmers from the Balkans and Central Europe, demographic and evolutionary dynamics that subsequently shaped the distribution of this adaptive trait across the continent have still to be elucidated. To deepen the knowledge about potential routes of diffusion of lactase persistence to Western Europe we investigated variation at a large genomic region surrounding the LCT gene along the Italian peninsula, a geographical area that played a key role in population movements responsible for Neolithic diffusion across Europe. Methods By genotyping 40 highly selected SNPs in more than 400 Italian individuals we described gradients of nucleotide and haplotype variation potentially related to lactase persistence and compared them with those observed in several European and Mediterranean human groups. Results Multiple migratory events responsible for earlier introduction of the examined alleles in Italy than in Northern European regions could be invoked. Different demic processes occurred along the western and eastern sides of the peninsula were also inferred via linkage disequilibrium and population structure analyses. Conclusion The appreciable genetic continuum observed between people from Northern or Central-Western Italy and Central European populations suggested a local arrival of lactase persistence-related variants mainly via overland routes. On the contrary, diversity of Central-Eastern and Southern Italian groups entailed also gene flow from South-Eastern Mediterranean regions, in accordance to the earlier entrance of the Neolithic in Southern Italy via maritime population movements along the Mediterranean coastlines.

Original languageEnglish
Pages (from-to)708-718
Number of pages11
JournalAmerican Journal of Physical Anthropology
Issue number4
Publication statusPublished - Dec 1 2015


  • anthropological genetics
  • lactose tolerance
  • Mediterranean human populations
  • natural selection

ASJC Scopus subject areas

  • Anthropology
  • Anatomy


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