ETD

• analysis window
• haplotypic frequency spectrum
• Italy
• LASSI
• positive selection
• selection signatures
• selective sweep
• surnames

The study of human genetic adaptations currently enables the development of a more informative picture of human evolutionary history, revealing the trade-offs and strategies shaped my natural selection. This thesis investigates genetic adaptations in in individuals from the Cinque Terre region, a geographically and historically isolated population from North-West Italy, to enhance our understanding of Italian evolutionary history and advance our comprehension of the selective sweep framework. Fifty participants were selected based on surnames demonstrating genealogical continuity from the 13th to 15th centuries, ensuring deep local ancestry. Signals of positive selection were detected using the LASSI pipeline, which models haplotype frequency spectra under neutrality and selection scenarios. The genome was scanned using fixed-size SNP windows, and composite likelihood ratios were computed to identify regions exhibiting significant departures from chromosome-wide neutral expectations. The strongest candidate regions were functionally interpreted through over-representation analysis and protein–protein interaction network reconstruction. These analyses revealed several biologically plausible candidates and enriched pathways but showed limited overlap with sweep signals previously reported in other Italian populations. Among the most recurrent biological themes, multiple candidates were connected to immune-related functions, consistent with the general observation that immune genes are among the most common targets of recent positive selection in human populations. Together, the results provide a first genome-wide map of putative recent selection in Cinque Terre and contribute to the broader effort to characterize fine-scale adaptive variation within Italy.