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 Vol. 293; no. 1; pp. 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: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.03.2000
• 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; Brazil; Low-density lipoprotein receptor gene; Genetics; Cholesterol concentrations; Coronary artery disease; Pvu II polymorphism
• 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<0.05). Moreover, the P1P1 genotype was strongly associated with high concentrations of total cholesterol ( P=0.0001), triglycerides ( P=0.0295), LDL-C ( P=0.0001), and VLDL-C concentrations ( P=0.0280) and lower HDL-C concentrations ( P=0.0051) in HRG subjects. Similarly, the CG individuals with P1P1 genotype presented high concentrations of total cholesterol and LDL-C compared to other genotypes ( P=0.0001). This study demonstrates the influence of Pvu II polymorphism of the LDLR on serum lipid concentrations of individuals with low and high risk for CAD from Brazil.