title: Apolipoprotein B gene polymorphisms: prevalence and impact on serum lipid concentrations in hypercholesterolemic individuals from Brazil.
abstract: Genetic polymorphisms at the apolipoprotein B (apo B) have been associated with elevated plasma concentrations of low-density lipoprotein (LDL) cholesterol, atherosclerosis and increased risk for coronary artery disease (CAD). In the present study, four apo B gene polymorphisms (MspI, XbaI, Ins/Del and 3'HVR) have been investigated to determine their frequencies and influence on the lipid profile of 177 hypercholesterolemic white Brazilian subjects (HG) and 100 control individuals (CG). The genotype distribution and allele frequency of MspI, XbaI and Ins/Del polymorphisms of apo B gene were similar between HG and CG groups. The frequency of the alleles smaller than 43 repeats (< or =43) of 3'HVR polymorphism in the HG group was higher when compared to controls (16.4 vs. 8.5%, P<0.05). Moreover, these alleles were associated with higher total cholesterol concentrations in serum of hypercholesterolemic individuals (P<0.05). In addition, an association between Ins/Del and 3'HVR polymorphism was observed. The alleles < or =43 and Del were more frequent in the HG when compared to the CG individuals (P<0.05). We concluded that 3'HVR polymorphism at the apo B gene may be an important genetic marker to evaluate atherosclerotic disease risk.
authors.affiliation: Department of Clinical and Toxicological Analysis, Faculty of Pharmaceutical Sciences, University of São Paulo, Av. Lineu Prestes 580, CEP 05508-900, SP, São Paulo, Brazil. scavalli@usp.br
authors.forename: S A
authors.initials: SA
authors.lastname: Cavalli
authors.forename: M H
authors.initials: MH
authors.lastname: Hirata
authors.forename: L A
authors.initials: LA
authors.lastname: Salazar
authors.forename: J
authors.initials: J
authors.lastname: Diament
authors.forename: N
authors.initials: N
authors.lastname: Forti
authors.forename: S D
authors.initials: SD
authors.lastname: Giannini
authors.forename: E R
authors.initials: ER
authors.lastname: Nakandakare
authors.forename: M C
authors.initials: MC
authors.lastname: Bertolami
authors.forename: R D
authors.initials: RD
authors.lastname: Hirata
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D001055:Apolipoproteins B / Q000235:genetics*; D001938:Brazil; D002784:Cholesterol / Q000097:blood; D019003:Deoxyribonuclease HpaII; D015252:Deoxyribonucleases, Type II Site-Specific; D005260:Female; D017353:Gene Deletion; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D006937:Hypercholesterolemia / Q000235:genetics*; D008055:Lipids / Q000097:blood*; D008297:Male; D008875:Middle Aged; D016254:Mutagenesis, Insertional; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: D001055:Apolipoproteins B; D008055:Lipids; D002784:Cholesterol; D019003:Deoxyribonuclease HpaII; C025580:endodeoxyribonuclease XBAI; D015252:Deoxyribonucleases, Type II Site-Specific