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Linkage disequilibrium between a marker on the low-density lipoprotein receptor and high cholesterol levels.

We describe the presence of a linkage disequilibrium between high cholesterol levels in Afrikaner individuals and the common allele of the Pvu II restriction fragment polymorphism on the low-density lipoprotein (LDL) receptor gene. The frequencies of the common and the rare allele in a sample of the Afrikaner population were 0.654 and 0.346 (65 individuals) and 0.794 and 0.206 in the hypercholesterolaemic population (34 patients) (P less than 0.05). This finding supports other evidence for a founder origin of the high frequency of familial hypercholesterolaemia among Afrikaners.