ral ssBioMed CentBMC Medical Genetics Open AcceResearch article The D9N, N291S and S447X variants in the lipoprotein lipase (LPL)

Background: 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. 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