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ABSTRACT: 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.Conclusion
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.
SUBMITTER: Evans D
PROVIDER: S-EPMC2025595 | biostudies-literature | 2007 Aug
REPOSITORIES: biostudies-literature
BMC medical genetics 20070829
<h4>Background</h4>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.<h4>Methods</h4>The frequency of the LPL SNPs D9N, N291S and S447X in 100 patients with hyperlipidemia and APOE2/2 ...[more]