Apoe gene polymorphism in Val di Susa and comparison with Italian and European populations.

Apolipoprotein E (ApoE) is a plasma protein that plays a fundamental role in absorption, metabolism and transport of lipids in the human body. The ApoE gene (APOE) is polymorphic with three common alleles (E2, E3 and E4). A large amount of scientific studies reports higher levels of plasma total and LDL cholesterol in E4 carriers (compared to E2 and E3 carriers) with consequent higher risk to develop a cardiovascular disease. Moreover E4 allele is considered an important risk factor for the development of Late Onset Alzheimer Disease (LOAD). In Europe APOE gene polymorphism shows an allelic frequencies distribution characterized by a North-South cline: the E4 frequency is higher in the northern population (Lappons, Norwegians, Finns), then decrease gradually until reach a minimum in Mediterranean Basin. The aim of this work was the study of the APOE gene polymorphism in a sample of adults (n=161) belonging to the alpine communities of Val di Susa and the comparison with Italian and European populations. The APOE allelic frequencies in our sample (E2=0,03; E3=0,83; E4=0,14) are significantly different from those of the Italian (E2=0,06; E3=0,85; E4=0,09; χ²=13,05; df=2; p=0,0015) and Mediterranean populations.