CYP11B2 gene polymorphism among coronary heart disease patients and blood donors in Malaysia

ABSTRACT

Various previous studies have reported the implication of CYP11B2 gene polymorphism in the pathophysiology of cardiovascular diseases. In particular, the -344T/C polymorphism, which is located at a putative binding site for the steroidogenic transcription factor (SF-1) has been associated with essential hypertension, left ventricular dilation and coronary heart disease. In the present study, we aim to determine the allele and genotype frequencies of the CYP11B2 gene in patients with clinical manifestation of coronary heart disease and confirmed by angiography and blood donors and to calculate the association of the gene polymorphism with CHD. A total of 79 DNA from patients with coronary heart disease admitted to the National Heart Institute and 84 healthy blood donors have been genotyped using polymerase chain reaction technique followed by restriction enzyme digestion (RFLP). Results of the study demonstrated that out of 79 for the patients, 40 were homozygous T, 10 were homozygous C and 29 were heterozygous TC. The frequencies of genotype TT, CC and TC for patients were 0.5, 0.13 and 0.36 respectively. The frequencies of allele T and C in patients were 0.68 and 0.31 respectively. While for the blood donors, 40 subjects were of homozygous T, 7 were homozygous C and 37 were heterozygous TC. The genotype frequencies for the TT, CC and TC were 0.47, 0.08 and 0.44 respectively. The frequency of the allele T was 0.69 and allele C was 0.3. Chi-Square analysis showed that there was no significant difference in the genotype and C allele frequencies between the CHD patients and the blood donors. Our study suggests that there is lack of association between -344T/C polymorphism of CYP11B2 gene and coronary heart disease.