Subjects drawn from a population-based register were studied with respect to lipid level association. The association of isoforms of apolipoprotein E (apoE) with lipid level in the general population was found to be limited to people with one particular genotype at the low density lipoprotein receptor (LDLR) locus. The results presented in this paper suggest that functional LDLR variants enhance or limit the effect of isoforms of apoE. The association between apoE4 and serum total and LDL cholesterol level may be mediated through the LDL (apoB100, apoE) receptor to a greater extent than previously thought.
Clinical Genetics – Wiley
Published: May 1, 1989
Keywords: apolipoprotein E; cholesterol; DNA; LDL cholesterol; low density lipoprotein receptor; normal genetic variation; restriction fragment length polymorphism (RFLP)
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