In conclusion, this study, the first exploring the relation between HNF4A genetic variants, MetS and metabolic variables in a pediatric cohort, supports the hypothesis that HNF4A P1 promoter and intronic polymorphisms play a role in predisposing to T2D and could represent an early marker for the risk of developing the disease. The gene discussed is HNF4A; the disease is type 2 diabetes mellitus.