Association between HaeIII polymorphism of scavenger receptor class B type I gene and plasma HDL-cholesterol concentration

Ann Clin Biochem. 2002 Sep;39(Pt 5):478-81. doi: 10.1258/000456302320314485.

Abstract

Background: Evidence has recently been found for significant associations between genetic variation within the scavenger receptor class B type I gene (SR-BI), plasma lipids and anthropometric measurements in healthy Caucasians. The present case-control study was conducted to determine whether there is an association between three polymorphisms identified by the restriction endonucleases HaeIII, AluI and ApaI of SR-BI and coronary artery disease (CAD) in Korean subjects.

Methods: DNA was extracted from 137 subjects with CAD and 124 age-matched controls; it was amplified using the polymerase chain reaction. Individual alleles at each of the three polymorphic sites were identified by digestion with the appropriate restriction enzyme.

Results: Only a single allele was identified at the AluI and ApaI polymorphic sites. The frequency of the common (+) allele at the HaeIII polymorphic site was higher in CAD patients than in the controls (P = 0.001). The concentrations of plasma HDL-cholesterol and apolipoprotein AI also varied significantly among HaeIII genotypes in the CAD patients. The common (+) allele of the HaeIII polymorphism was associated with a lower body mass index in female controls.

Conclusions: Allele frequencies of the AluI and ApaI polymorphisms in this study were different to those in a Caucasian population studied previously, suggesting a difference in the genetic background. Further comparative studies of SR-BI polymorphism in other racial or ethnic groups should therefore prove to be of value.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Alleles
  • Analysis of Variance
  • CD36 Antigens / genetics*
  • CD36 Antigens / metabolism
  • Case-Control Studies
  • Cholesterol, HDL / blood*
  • Coronary Disease / blood
  • Coronary Disease / genetics*
  • Demography
  • Deoxyribonucleases, Type II Site-Specific / genetics
  • Deoxyribonucleases, Type II Site-Specific / metabolism*
  • Female
  • Gene Frequency
  • Heterozygote
  • Humans
  • Male
  • Membrane Proteins*
  • Middle Aged
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Receptors, Immunologic*
  • Receptors, Lipoprotein*
  • Receptors, Scavenger
  • Scavenger Receptors, Class B

Substances

  • CD36 Antigens
  • Cholesterol, HDL
  • Membrane Proteins
  • Receptors, Immunologic
  • Receptors, Lipoprotein
  • Receptors, Scavenger
  • SCARB1 protein, human
  • Scarb1 protein, mouse
  • Scavenger Receptors, Class B
  • endodeoxyribonuclease AluI
  • Deoxyribonucleases, Type II Site-Specific
  • GGCC-specific type II deoxyribonucleases
  • GGGCCC-specific type II deoxyribonucleases