The ins/del polymorphism in the signal sequence of apolipoprotein B has no effect on lipid parameters.

The 'ins/del' polymorphism in the signal sequence of apolipoprotein B alters the hydrophobicity of the signal sequence and therefore would be expected to affect the rate of production of apolipoprotein B (apo B) and the plasma concentrations of lipoproteins containing this apolipoprotein. We sought evidence for an association with plasma lipid levels and this polymorphism in two studies, one using a normal randomly selected population (N = 188) and another using a mildly hypercholesterolaemic group of men aged 45-64 (N = 360). The frequency of the rarer, 'del' allele, was the same in both groups. Likewise no differences in serum cholesterol, serum triglycerides, very low density lipoprotein, low density lipoprotein or high density lipoprotein were seen comparing homozygotes for the signal sequence allele within either group.