An Integrated Genetic and Epigenetic Analysis of Type 2 Diabetes in the Italian population

Type 2 diabetes (T2D) is a common metabolic disease where complex interactions between genetics and environment take place. The aim of this thesis is to apply an integrative analysis of genetic and epigenetic data in order to identify new possible molecular interactions at the basis of T2D in the Italian population. First we performed a genome-wide association study (GWAS) on 1,352 individuals (~ 550,000 SNPs) comparing patients with at least one complication (T2D-pts) with healthy controls (CTRL) and with centenarians (CENT), who never developed the disease (“extreme phenotype” approach). The comparison TD2-pts vs CTRL showed for the first time an association for SNPs in MS4A14 and THSD4 genes and confirmed SNPs in DNHD1, ELMOD1 DLC1 genes (pval <10-4). The comparison CENT vs T2D-pts showed association (pval