Abstract

Around 100 kya, H. sapiens started its colonization of the world, gradually adapting to new environmental conditions and to extremely different alimentary resources. Interaction between the human genome and nutritional/climatic conditions is regulated by physiological mechanisms that modulate body temperature and the energetic balance. Genes involved in these processes are thus considered as one of the principal targets of biomedical research focused on chronic metabolic diseases. The aim of this project is to investigate micro-evolutionary processes that shaped metabolic variability among human populations through the description of patterns of genetic diversity and their potential association with phenotypes linked to nutrition and thermoregulation. Particularly the identification of potential adaptation processes was carried on through three major research projects. The first one focused on European populations, which have experienced several migration and adaptation processes during their recent evolutionary history. Through an in silico approach, it was possible to analyse the pattern of genetic variability in Europe for genes involved in different metabolic processes and to find multiple signals of local adaptation to climate. In the second study, thanking advantage from previous researches carried on by our research group on Italian samples and by means of genome-wide approaches, we investigate patterns of genetic variability at three genes associated to metabolic phenotypes along Italy. A targeted analysis has been conducted on samples from several Italian provinces, highlighting a different pattern of variability among distinct macro-areas of the peninsula thus indicating that different adaptation processes may have acted on such loci. Finally, in the last project, taking advantage from data generated for a probiotic treatment case study on individual affected by celiac disease, it was possible to evaluate the influence of this pathologic condition on gut microbiota composition and thus to get evolutionary insights into the complex interplay between gut microbiota and celiac disease susceptibility.

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