Rare variant of apolipoprotein E (Arg136-->Cys) in a subject with normal lipid values

J A Hubacek, J Pitha, Z Skodová, R Poledne
2002 Physiological Research  
During the screening of apolipoprotein (apo) E gene polymorphism with PCR and subsequent restriction analysis, we have identified a female carrier with a mutant allele Arg136-->Cys. This proband had normal lipid parameters and no history of coronary artery disease (CAD). We did not confirm the previously described connection between apo E Arg136-->Cys mutation and elevated lipid levels. In the case of this mutation, other factors (environmental and/or genetic) are important for the development
more » ... or the development of lipid metabolism disorders.
pmid:12071285 fatcat:x7v3xqnn5fcozem2hf5szo6z3e