Key result
The D9N, N291S, and S447X variants in the LPL gene were not significantly associated with Type III hyperlipidemia in patients with the APOE2/2 genotype compared to controls.
Why the study?
Are the D9N, N291S, and S447X variants in the LPL gene associated with Type III Hyperlipidemia in patients with the APOE2/2 genotype?
Case-Control (n=1,608)
No
Are the D9N, N291S, and S447X variants in the LPL gene associated with Type III Hyperlipidemia in patients with the APOE2/2 genotype?
Common variants in the LPL gene (D9N, N291S, S447X) do not appear to be important genetic co-factors for the development of Type III Hyperlipidemia in patients with the APOE2/2 genotype.
No association with common LPL variants in this case-control study; leaves open other genetic modifiers of Type III hyperlipidemia risk in APOE2/2 carriers.
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.
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Evans et al. (2007) conducted a case-control in Type III Hyperlipidemia (n=1,608). D9N, N291S, and S447X variants in the LPL gene vs. Healthy blood donors and non-APOE2/2 hyperlipidemic patients was evaluated on Frequency of LPL SNPs (D9N, N291S, S447X). The D9N, N291S, and S447X variants in the LPL gene were not significantly associated with Type III hyperlipidemia in patients with the APOE2/2 genotype compared to controls.
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