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

Background Evidence has recently been found for significant associations between genetic variation within the scavenger receptor class B type I gene (SR-B1) 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 Haelll, Alul and Apal 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 Alul and Apal polymorphic sites. The frequency of the common (+) allele at the Haelll polymorphic site was higher in CAD patients than in the controls (P=0.001). The concentrations of plasma HDL-cholesterol and apolipoprotein Al also varied significantly among Haelll genotypes in the CAD patients. The common (+) allele of the Haelll polymorphism was associated with a lower body mass index in female controls. Conclusions Allele frequencies of the Alul and Apal 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.