The common polymorphism of apolipoprotein E: geographical aspects and new pathophysiological relations

Clin Chem Lab Med. 2003 May;41(5):628-31. doi: 10.1515/CCLM.2003.094.

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.

Publication types

  • Review

MeSH terms

  • Apolipoproteins E / genetics*
  • Gene Frequency*
  • Genetics, Population
  • Genotype
  • Geography
  • Humans
  • Polymorphism, Genetic / genetics*
  • Vitamin E Deficiency / genetics

Substances

  • Apolipoproteins E