Furthermore, DNA sequencing shows that rare large-effect variants in genes such as LDL receptor (LDLR) and lipoprotein lipase are found in some CHL patients, explaining the elevated LDL cholesterol and triglyceride components, respectively.
We have investigated whether common polymorphisms and mutations in the apolipoprotein (apo) E, lipoprotein lipase (LPL), and apo CIII genes influence atorvastatin or bezafibrate responses in patients with CHL.
Subjects with combined hyperlipidemia (CHL) were screened for mutations in the lipoprotein lipase (LPL) gene by single-strand conformational polymorphism, and a previously reported G-->A DNA sequence change in exon 2, causing substitution of Asp by Asn at position 9, was identified in 2 individuals.