ISEMPH Presentation: Marco Sazzini

ISEMPH - Marco Sazzini, University of Bologna

"Depicting population structure and adaptive events along the Italian Peninsula: implications for susceptibility to diseases"
Marco Sazzini
Department of Biological, Geological & Environmental Sciences
University of Bologna, Italy
Anthropological Evolutionary Genomics; Human Adaptation, Population Structure, Genome Wide Association Studies Due to its pivotal geographical position, the Italian Peninsula has long represented a natural hub for human migrations, enabling direct connection between the Mediterranean basin and several continental European regions. Accordingly, both prehistoric and historical demographic processes, coupled with a patchy environmental landscape, have contributed to shape the genomic background of present-day Italians. The interplay between neutral and adaptive evolutionary forces thus plausibly varied across the diverse human groups settled along the peninsula according to different selective pressures. This resulted in population structure and local adaptations to environmental/cultural factors, which might have led to differential susceptibility to diseases along the peninsula and having the potential to bias traditional association studies. To disentangle this complex evolutionary scenario, we applied Anthropological Genomics methods to a dataset including more than 500,000 genetic variants, half of which located on the exome, typed on 780 healthy individuals recruited to be representative of variation observable along the entire peninsula. Identification of genomic regions driving patterns of population structure and underlying local adaptations is currently used to inform more incisive GWAS focused on diseases plausibly evolved due to maladaptive processes affecting inflammatory (i.e. psoriatic arthritis), metabolic (i.e. type 2 diabetes) and dietary-related (i.e. non-celiac gluten sensitivity) pathways.