SHORT COMMUNICATION
Rare Variant of
Apolipoprotein E (Arg136→Ser) in Two Normolipidemic Individuals
J. A. HUBÁČEK1,2, V. ADÁMKOVÁ1,
Z. ŠKODOVÁ1
1Institute for Clinical and Experimental Medicine and
2Cardiovascular Research Centre, Prague, Czech
Republic
Received August 18, 2004
Accepted December 7, 2004
On-line available January 10, 2005
Summary
Through the analysis of the common apolipoprotein (apo) E gene
polymorphism in large Caucasian population study with the PCR
and subsequent restriction analysis, we have identified carriers
of mutant allele Arg136→Ser. Both of them (71-years-old female
and her 43-years-old son) have normal lipid parameters. We
suggest that Arg136→Ser mutation in apoE is not necessarily
connected with elevated lipid levels in all cases. Furthermore,
so far unidentified factors (environmental and/or genetic) are
important for the development of lipid metabolism disorders in
apoE Arg136→Ser mutation carriers.
Key words
Apolipoprotein E • Rare mutation • Lipid metabolism
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