title: Apo B gene haplotype is associated with lipid profile of higher risk for coronary heart disease in Caucasian Brazilian men.
abstract: We investigated using haplotype analysis whether genetic variation of the apo B gene is associated with a higher risk for coronary heart disease in a Brazilian population. Ins/Del, XbaI, and EcoRI polymorphic sites of the apolipoprotein B (apo B) gene were studied in 67 patients with CHD and in 67 age-matched healthy individuals selected from a population of Brazilians. The allelic frequency of apo B polymorphisms did not differ between the CHD patients and controls. However, a significant linkage disequilibrium was observed between the XbaI site and Ins/Del polymorphism of the apo B gene in CHD individuals (chi2, P < 0.01). The simultaneous presence of the rare X+ and Del alleles (X+Del haplotype) in males of CHD group was associated with significantly higher serum levels of total cholesterol (P < 0.01), triglycerides (P < 0.05), and LDL-cholesterol (P < 0.05), and with a higher TC/HDL-C ratio (P < 0.05). These data indicate that a single haplotype, X+Del, within the apo B gene exerts an impact on lipid metabolism and may contribute to the susceptibility to development of CHD in males from a population of Brazilians.
authors.affiliation: Department of Clinical and Toxicological Analysis, Faculty of Pharmaceutical Sciences, São Paulo University, São Paulo, Brazil. matriatholon@hotmail.com
authors.forename: M O
authors.initials: MO
authors.lastname: Machado
authors.forename: M H
authors.initials: MH
authors.lastname: Hirata
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; D000483:Alleles; D001055:Apolipoproteins B / Q000235:genetics*; D001938:Brazil; D002784:Cholesterol / Q000097:blood; D008076:Cholesterol, HDL / Q000097:blood; D003327:Coronary Disease / Q000235:genetics*; D015246:Deoxyribonuclease EcoRI; D015252:Deoxyribonucleases, Type II Site-Specific; D005260:Female; D017353:Gene Deletion; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008055:Lipids / Q000097:blood*; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012307:Risk Factors; D044465:White People
chemical_list: D001055:Apolipoproteins B; D008076:Cholesterol, HDL; D008055:Lipids; D002784:Cholesterol; D015246:Deoxyribonuclease EcoRI; C025580:endodeoxyribonuclease XBAI; D015252:Deoxyribonucleases, Type II Site-Specific