title: Effects of Ava II and Hinc II polymorphisms at the LDL receptor gene on serum lipid levels of Brazilian individuals with high risk for coronary heart disease.
abstract: Coronary heart disease (CHD) has presented high prevalence in the Brazilian population. Nevertheless, studies of genetic risk factors for CHD in our country are insufficiently carried out. We have investigated the effects of Ava II (exon 13) and Hinc II (exon 12) polymorphisms at the low-density lipoprotein receptor (LDLR) gene on circulating lipids of 170 white unrelated individuals presenting a lipid profile with high risk for CHD (HRG) and 130 controls (CG) from São Paulo City, Brazil. Ava II and Hinc II polymorphic regions at the LDLR gene were amplified by PCR and analyzed by enzymatic isotyping. The frequency of the genotypes A+A+ (Ava II) and H+H+ (Hinc II) was greater in HRG group compared to that of the controls (32 vs. 16% and 32 vs. 18%, respectively). Moreover, in the HRG group, A+A+ and H+H+ genotypes were associated with high concentrations of total cholesterol and LDL-C in serum (P = 0.0001). Our results indicate that Ava II and Hinc II polymorphisms at the LDLR locus contribute to the variability of total cholesterol and LDL-C levels in HRG individuals. These data suggest that the LDLR polymorphism remains a useful genetic marker for predicting CHD risk.
authors.affiliation: Department of Clinical and Toxicological Analysis, Faculty of Pharmaceutical Sciences, University of São Paulo, Brazil. luisn@usp.br
authors.forename: L A
authors.initials: LA
authors.lastname: Salazar
authors.forename: M H
authors.initials: MH
authors.lastname: Hirata
authors.forename: S D
authors.initials: SD
authors.lastname: Giannini
authors.forename: N
authors.initials: N
authors.lastname: Forti
authors.forename: J
authors.initials: J
authors.lastname: Diament
authors.forename: J S
authors.initials: JS
authors.lastname: Issa
authors.forename: R D
authors.initials: RD
authors.lastname: Hirata
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D001938:Brazil; D003327:Coronary Disease / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D008055:Lipids / Q000097:blood*; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011973:Receptors, LDL / Q000235:genetics*; D012307:Risk Factors
chemical_list: D005819:Genetic Markers; D008055:Lipids; D011973:Receptors, LDL