title: APO E genotype and familial hypercholesterolaemia.
abstract: Apolipoprotein E genotypes were measured in 83 patients with familial hypercholesterolaemia (FH) and in 175 blood donor controls. Following DNA extraction from peripheral blood, each sample was genotyped for the Apo E polymorphism by polymerase chain reaction. No significant differences were found in the levels of the epsilon 2 and epsilon 3 alleles between the two groups, while the epsilon 4 allele was approximately twice as prevalent in the FH patients as in controls (P = 0.006, df = 1). Of the FH patients, 8.4% were homozygous for the epsilon 4 allele while this genotype was rare in controls (P = 0.009, df = 1). These results suggest that the epsilon 4 allele is over represented in the FH population and may contribute to increased cholesterol levels and consequent vascular disease.
authors.affiliation: Clinical Chemistry Laboratories, Ulster Hospital, Dundonald, Northern Ireland.
authors.forename: E B
authors.initials: EB
authors.lastname: Duly
authors.forename: A J
authors.initials: AJ
authors.lastname: Ward
authors.forename: C W
authors.initials: CW
authors.lastname: Kirk
authors.forename: N C
authors.initials: NC
authors.lastname: Nevin
authors.forename: T R
authors.initials: TR
authors.lastname: Trinick
authors.forename: D P
authors.initials: DP
authors.lastname: Nicholls
authors.forename: I S
authors.initials: IS
authors.lastname: Young
authors.forename: C A
authors.initials: CA
authors.lastname: Graham
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001057:Apolipoproteins E / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D006937:Hypercholesterolemia / Q000235:genetics*; D008297:Male; D008875:Middle Aged
chemical_list: D001057:Apolipoproteins E