The D9N, N291S and S447X variants in the lipoprotein lipase (LPL) gene are not associated with Type III hyperlipidemia.
BACKGROUND
Type III hyperlipidemia (Type III HLP) is associated with homozygosity for the epsilon2 allele of the APOE gene. However only about 10% of epsilon2 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.


METHODS
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.


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


CONCLUSIONS
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.
Evans
David
D
Endokrinologie und Stoffwechsel, Medizinische Klinik III, Zentrum für Innere Medizin, Universitätsklinikum Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany. evans@uke.uni-hamburg.de
Beil
Frank U
FU
D000328:Adult; D000483:Alleles; D053329:Apolipoprotein E2 / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D006952:Hyperlipoproteinemia Type III / Q000235:genetics*; D008071:Lipoprotein Lipase / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide
D053329:Apolipoprotein E2; D008071:Lipoprotein Lipase