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Open Access Research article

The D9N, N291S and S447X variants in the lipoprotein lipase (LPL) gene are not associated with Type III Hyperlipidemia

David Evans* and Frank U Beil

Author Affiliations

Endokrinologie und Stoffwechsel, Medizinische Klinik III, Zentrum für Innere Medizin, Universitätsklinikum Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany

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BMC Medical Genetics 2007, 8:56  doi:10.1186/1471-2350-8-56

Published: 29 August 2007



Type III hyperlipidemia (Type III HLP) is associated with homozygosity for the ε2 allele of the APOE gene. However only about 10% of ε2 homozygotes develop Type III HLP and it is assumed that additional genetic and/or environmental factors are required for its development. Common variants in the LPL gene have been proposed as likely genetic co-factors.


The frequency of the LPL SNPs D9N, N291S and S447X in 100 patients with hyperlipidemia and APOE2/2 genotype has been determined and compared to that in healthy blood donors and patients with hyperlipidemia.


There were no statistically significant difference in the frequencies of the variants between APOE2/2 patients and controls.


It is unlikely that the D9N, N291S or S447X variants in the LPL gene play an important role in the development of Type III HLP.