Pvu II intron 15 polymorphism at the LDL receptor gene is associated with differences in serum lipid concentrations in subjects with low and high risk for coronary artery disease from Brazil

• Published in: Clinica chimica acta 2000-03, Vol.293 (1), p.75-88
• Main Authors: Salazar, Luis A, Hirata, Mario H, Forti, Neusa, Diament, Jayme, Giannini, Sérgio D, Issa, Jaqueline S, Hirata, Rosario D.C
• Format: Article
• Language: English
• Subjects: Adult; Aged; Alleles; Brazil; Cholesterol concentrations; Coronary artery disease; Coronary Disease - blood; Coronary Disease - genetics; Deoxyribonucleases, Type II Site-Specific - genetics; DNA - genetics; DNA - isolation & purification; Female; Genetics; Genotype; Humans; Introns - genetics; Lipids - blood; Low-density lipoprotein receptor gene; Male; Middle Aged; Polymerase Chain Reaction; Polymorphism, Genetic - genetics; Polymorphism, Restriction Fragment Length; Pvu II polymorphism; Receptors, LDL - genetics; Risk; Sex Characteristics
• ISSN: 0009-8981; 1873-3492
• DOI: 10.1016/S0009-8981(99)00218-1

Coronary artery disease (CAD) has a high prevalence in the Brazilian population. Nevertheless, studies of genetic risk factors for CAD in this country have not been sufficiently conducted. We used the Pvu II polymorphism (intron 15) at the low-density lipoprotein receptor (LDLR) gene to study the effect of variation at this locus in determining plasma lipid concentrations in 128 white subjects presenting a lipid profile suggesting high risk for CAD (HRG) and 100 white normolipidemic individuals (controls, CG). The Pvu II polymorphism was detected by PCR–RFLP. The P1P1 genotype for Pvu II polymorphism (homozygous for absence of restriction site) was greater in HRG individuals than in CG subjects (57% vs. 38%, P