Background: It has been suggested that Q/R 192 polymorphism of paraoxonase1 (PON1) and 5A/6A polymorphism of matrix metalloproteinase-3 (MMP-3) might be associated with the predisposition to coronary artery disease (CAD). Therefore to investigate the significance of these polymorphisms in the pathogenesis of CAD we performed an association study of the polymorphisms with CAD and the number of diseased vessels in patients with CAD.
Methods: We studied the human PON1 and MMP3 gene polymorphisms in patients with CAD by polymerase chain reaction/ restriction fragment length polymorphism (PCR/RFLP). These polymorphisms were determined in 129 CAD patients and 115 control subjects who underwent coronary angiography. CAD was defined as the presence of one or more stenoses>50% in at least one major coronary artery and subjects with <10% stenosis served as controls.
Results: The frequencies of the PON1 192 RR genotype and MMP-3 6A6A genotype were increased among CAD patients compared with controls (p<0.05 and p<0.001 respectively). The combined genotypes of RR/6A6A had significantly higher frequency in the CAD patients compared with subjects who possess neither the MMP-3 6A6A nor the PON1 RR genotype (p<0.001) and finally in the study of relationship between genotypes and severity of disease, distribution of PON1 192 and MMP-3 5A6A genotypes were not associated with the number of diseased vessels (p>0.05).
Conclusion: The combined PON1 192 and MMP-3 5A6A polymorphisms are associated with CAD but don't have any effect on the number of diseased vessels.