👤 Laura Sbarra

Beef cattle breeds from Central and Southern Italy, such as Marchigiana, Chianina, Romagnola, Maremmana, and Podolica, represent a unique genetic resource shaped by centuries of natural and artificial selection. Their origin, partly linked to the Podolian group, remains debated, while their adaptation to diverse environments and close association with regional economies enhance their zootechnical and cultural value. Despite their importance, comprehensive assessments of their genomic diversity are still limited, especially in an international context where preserving local breeds is crucial to maintain global biodiversity and resilience in livestock systems. This study investigates population structure, inbreeding, selection signatures, and effective population size using medium-density single-nucleotide polymorphism genotypes. Multivariate and clustering approaches confirmed clear genetic differentiation among breeds, with Chianina and Romagnola being the most divergent, in line with their intensive selection history. In contrast, Maremmana and Podolica displayed shared ancestral components, reflecting their adaptation to extensive and marginal environments. Pairwise F Show less

Bicuspid aortic valve (BAV) is the most frequent congenital heart defect and has a male predominance of 3 to 1. A large proportion of patients develop valvular and aortic complications. Despite the high prevalence of BAV, its cause and genetic origins remain elusive. The goal of this study was to identify genetic variants associated with BAV. Nine genes previously associated with BAV (NOTCH1, AXIN1, EGFR, ENG, GATA5, NKX2-5, NOS3, PDIA2, and TGFBR2) were sequenced in 48 patients with BAV using the Ion Torrent Personal Genome Machine. Pathogenicity of genetic variants was evaluated with the Combined Annotation Dependent Depletion framework. A selection of 89 variants identified by sequencing or in previous BAV genetic studies was genotyped, and allele frequencies were compared in 323 patients with BAV confirmed at surgery and 584 controls. Analyses were also performed by gender. Nine novel and 19 potentially pathogenic variants were identified by next-generation sequencing and confirmed by Sanger sequencing, but they were not associated with BAV in the case-control population. A significant association was observed between an in silico-predicted benign EGFR intronic variant (rs17290301) and BAV. Analyses performed by gender revealed different variants associated with BAV in men (EGFR rs533525993 and TEX26 rs12857479) and women (NOTCH1 rs61751489, TGFBR2 rs1155705, and NKX2-5 rs2277923). In conclusion, these results constitute the first association between EGFR genetic variants and BAV in humans and support a possible role of gender-specific polymorphisms in the development of BAV. Show less