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

Coronary artery disease (CAD) has a high prevalence in the Brazilian popula tion. Nevertheless, studies of genetic risk factors for CAD in this country have not been sufficiently conducted. We used the Pvu II polymorphism (int ron 15) at the low-density lipoprotein receptor (LDLR) gene to study the ef fect of variation at this locus in determining plasma lipid concentrations in 128 white subjects presenting a lipid profile suggesting high risk for C AD (HRG) and 100 white normolipidemic individuals (controls, CG). The Pvu I I polymorphism was detected by PCR-RFLP. The P1P1 genotype for Pvu II polym orphism (homozygous fbr absence of restriction site) was greater in HRG ind ividuals than in CG subjects (57% vs. 38%, P < 0.05). Moreover, the P1P1 ge notype was strongly associated with high concentrations of total cholestero l (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 hi gh concentrations of total cholesterol and LDL-C compared to other genotype s (P = 0.0001). This study demonstrates the influence of Pvu II polymorphis m of the LDLR on serum lipid concentrations of individuals with low and hig h risk for CAD from Brazil. (C) 2000 Elsevier Science B.V. All rights reser ved.