title: Investigation into the role of apolipoprotein B gene 8344C/T variant on plasma cholesterol levels by allele-specific PCR amplification.
abstract: The 8344C/T polymorphism of the apoB gene was genotyped by an original modification of PCR allele-specific amplification consisting in a single amplification reaction double-primed by two opposite allele-specific oligonucleotides nested in a larger amplified fragment. This method was used to genotype 200 randomly selected healthy individuals (113 males, 87 females). The frequency of the rare allele in this random Italian population was 0.240, i.e. not far from the 0.282 frequency observed in hypocholesterolemic Norwegians and suggestive of a moderating effect on LDL levels of our population. However, we did not find any significant cholesterol-lowering effect of this polymorphism either by comparing the frequency of mutant alleles in the population stratified for its plasma lipoprotein levels or by studying the association between ApoB genotype and the different lipoproteins. In conclusion this ApoB polymorphism appeared to have a secondary role in LDL- and HDL-cholesterol variations of our population.
authors.affiliation: Laboratorio di Metabolismo e Biochimica Patologica, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Roma. cantafor@iss.it
authors.forename: Alfredo
authors.initials: A
authors.lastname: Cantafora
authors.forename: Stefano
authors.initials: S
authors.lastname: Bertolini
authors.forename: Ida
authors.initials: I
authors.lastname: Blotta
authors.forename: Roberto
authors.initials: R
authors.lastname: Rivabene
authors.forename: Livia
authors.initials: L
authors.lastname: Pisciotta
authors.forename: Silvia
authors.initials: S
authors.lastname: Langheim
authors.forename: Sebastiano
authors.initials: S
authors.lastname: Calandra
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D001055:Apolipoproteins B / Q000235:genetics*; D002784:Cholesterol / Q000097:blood*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D001055:Apolipoproteins B; D002784:Cholesterol