Normaznah Y, Azizah M R, Kuak S H, Rosli M A
Institute for Medical Research, Biotechnology Unit, Jalan Pahang, 50588 Kuala Lumpur, Malaysia.
Malays J Pathol. 2015 Apr;37(1):45-7.
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.
以往的各种研究报告了CYP11B2基因多态性在心血管疾病病理生理学中的作用。特别是位于类固醇生成转录因子（SF-1）假定结合位点的-344T/C多态性，已与原发性高血压、左心室扩张和冠心病相关。在本研究中，我们旨在确定经血管造影确诊的冠心病临床表现患者和献血者中CYP11B2基因的等位基因和基因型频率，并计算该基因多态性与冠心病的相关性。使用聚合酶链反应技术，随后进行限制性内切酶消化（RFLP），对国立心脏研究所收治的79例冠心病患者和84例健康献血者的DNA进行了基因分型。研究结果表明，79例患者中，40例为纯合子T，10例为纯合子C，29例为杂合子TC。患者基因型TT、CC和TC的频率分别为0.5、0.13和0.36。患者等位基因T和C的频率分别为0.68和0.31。而对于献血者，40例为纯合子T，7例为纯合子C，37例为杂合子TC。TT、CC和TC的基因型频率分别为0.47、0.08和0.44。等位基因T的频率为0.69，等位基因C的频率为0.3。卡方分析表明，冠心病患者和献血者的基因型和C等位基因频率没有显著差异。我们的研究表明，CYP11B2基因的-344T/C多态性与冠心病之间缺乏关联。
