Lars Ulrik Gerdes
The Common Polymorphism of Apolipoprotein E:
Geographical Aspects and New Pathophysiological
Relations
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.
Clinical Chemical Laboratory Medicine, Walter de Gruyter
Print ISSN: 1434-6621
Volume: 41, 05/2003
Pages: 628 - 631
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