Guney A I, Ergec D, Kirac D, Ozturhan H, Caner M, Koc G, Kaspar C, Ulucan K, Agirbasli M
Department of Medical Genetics, Faculty of Medicine, Marmara University, Istanbul, Turkey.
Genet Mol Res. 2013 Dec 19;12(4):6895-906. doi: 10.4238/2013.December.19.8.
Coronary artery disease (CAD) is a multifactorial disease influenced by genetic and environmental factors. Major risk factors of CAD are hypertension, hyperlipidemia, smoking, family history and obesity. Also polymorphisms in the angiotensin-I converting enzyme (ACE) gene can associate with CAD. The relationship between ACE polymorphisms and other risk factors is not well understood in CAD, likely due to the complex interrelation of genetic and environmental risk factors. The aim of this study was to investigate the associations of CAD risk factors and ACE polymorphisms in patients with CAD. We enrolled 203 consecutive patients and 140 healthy subjects in the study. The severity of CAD was evaluated according to the number of vessels with significant stenosis. ACE insertion (I)/deletion (D) genotype was determined by PCR. The frequency of the DD genotype was significantly higher in patients. D allele frequency was higher among CAD subjects when compared to the control group. The number of stenotic vessels were found to be statistically associated with a high frequency of DD polymorphism and D allele and a low frequency of I allele in patients, especially in male patients. The control group displayed II and ID genotypes more frequently than did the patients. The ACE I/D genotype was associated with hyperlipidemia and smoking history. We consider that the DD polymorphism and D allele may affect the severity of CAD, while I allele may have a protective effect. In conclusion, the ACE I/D genotype may interact with conventional risk criteria in determining the risk of CAD.
冠状动脉疾病(CAD)是一种受遗传和环境因素影响的多因素疾病。CAD的主要危险因素包括高血压、高脂血症、吸烟、家族史和肥胖。此外,血管紧张素转换酶(ACE)基因的多态性也可能与CAD相关。在CAD中,ACE多态性与其他危险因素之间的关系尚未完全明确,这可能是由于遗传和环境危险因素之间复杂的相互关系所致。本研究的目的是调查CAD患者中CAD危险因素与ACE多态性之间的关联。我们连续纳入了203例患者和140名健康受试者。根据有显著狭窄的血管数量评估CAD的严重程度。通过聚合酶链反应(PCR)确定ACE插入(I)/缺失(D)基因型。患者中DD基因型的频率显著更高。与对照组相比,CAD受试者中D等位基因频率更高。在患者中,尤其是男性患者中,发现狭窄血管的数量与DD多态性的高频率、D等位基因的高频率以及I等位基因的低频率在统计学上相关。对照组中II和ID基因型的出现频率比患者组更高。ACE I/D基因型与高脂血症和吸烟史相关。我们认为DD多态性和D等位基因可能会影响CAD的严重程度,而I等位基因可能具有保护作用。总之,ACE I/D基因型在确定CAD风险时可能与传统风险标准相互作用。