title: The common polymorphism of apolipoprotein E: geographical aspects and new pathophysiological relations.
abstract: Apolipoprotein E (apoE) has important functions in systemic and local lipid transport, but also has other functions. The gene (APOE) shows a common polymorphism with three alleles--APOE*2, APOE*3, and APOE*4. Their frequencies vary substantially around the world, but APOE*3 is the most common almost everywhere and is often considered to be the ancestral or "wild-type" allele for that reason. However, there are several arguments for APOE*4 being the ancestral allele. But then, why has APOE*3 become so frequent? And why has APOE*4 not become extinct? The proportion of APOE*4 carriers increases from only 10-15% in southern Europe to 40-50% in the north. The gradient may be a trace of the demic expansion of agriculture that began about 10,000 years ago, but it may also reflect the possibility that APOE*4 carriers are less likely to develop vitamin D deficiency. The common APOE polymorphism is associated with varying risk of cardiovascular disease and Alzheimer's disease, but other interesting aspects may emerge in the future.
authors.affiliation: Department of Clinical Biochemistry, Aarhus University Hospital, Aarhus Amtssygehus, Aarhus, Denmark. ulrik.gerdes@dadlnet.dk
authors.forename: Lars Ulrik
authors.initials: LU
authors.lastname: Gerdes
mesh_terms: D001057:Apolipoproteins E / Q000235:genetics*; D005787:Gene Frequency; D005828:Genetics, Population; D005838:Genotype; D005843:Geography; D006801:Humans; D011110:Polymorphism, Genetic / Q000235:genetics*; D014811:Vitamin E Deficiency / Q000235:genetics
chemical_list: D001057:Apolipoproteins E