腎素-血管收縮素-醛固酮系統的基因多型性和冠動脈疾病在中台灣– 一個單一醫學中心的研究

研究背景: 冠狀動脈疾病（CAD）或冠狀動脈心臟病（CHD）是造成人類死亡率和發病率的主要原因。腎素-血管緊張素-醛固酮系統（RAAS）的基因多型性，潛在的的影響我們的體液平衡，可能與冠狀動脈心臟病有所關聯。 於是我們檢測接受冠狀動脈造影的患者的血液樣本，去調查其醛固酮合成酶基因（CYP11B2- 344C /T），礦物皮質激素受體基因MR A4582C和MR G3514C的基因多型性。 材料與方法: 我們共研究了609例接受冠狀動脈造影病例，研究時間為西元2007年4月至2009年3月。其中所收集的資料包括性別，年齡，共同併發症（高血壓和糖尿病），及心臟超音波檢查數據。作為基因研究的檢體來自每個被研究個體的靜脈血液。採用分析聚合酶鏈反應-限制性片段長度多型性（PCR - RFLP）的方法分析CYP11B2 C-344T, MR G3514C 和 MR A4582C的基因多型性。研究結果: 我們發現第二型糖尿病和動脈高血壓的比例在於冠心病患者較高。然而初步分析顯示，MRA4582C，MRG3514C，CYP11B2-344C/T的基因多型性在有或沒有冠狀動脈疾病兩組之間目前的分布比率還沒有顯著差異。但是，CYP11B2-C/C等位基因明顯在於女性冠心病的比率則明顯較高（10.2％比0％，p值= 0.01）。結論: 在這項研究中顯示，傳統的危險因子如男性性別，高血壓和糖尿病對冠狀動脈心臟病確實存在很大的影響；而醛固酮合成酶的的基因多型性，可能會影響女性冠心症的發生。

Background: Coronary artery disease (CAD) or coronary heart disease (CHD) is a major cause of mortality and morbidity for humankind. Genetic polymorphism of the rennin-angiotensin-aldosterone system (RAAS) affecting our circulation homeostasis may be potentially associated with coronary heart disease. So we investigated genetic polymorphism of aldosterone synthase gene (CYP11B2-344C/T), mineral corticoid receptor allele MR A4582C and MR G3514C among patients receiving coronary angiography.Materials and methods: We studied 609 unrelated patients receiving coronary angiography from April 2007 to March 2009. The collected data included genders, age, co-morbidities (hypertension and diabetes), and echocardiography measurements. Venous blood from each subject was obtained for genetic study. The CYP11B2 C-344T, MR G3514C and MR A4582C gene polymorphisms were determined by PCR-RFLP assay.Results: The proportion of type 2 diabetes mellitus and arterial hypertension was higher in patient with CAD. There were no significant differences in MR A4582C, MR G3514C, CYP 11B2 between the two groups. But CYP11B2-C/C allele was higher in the female group with CAD (10.2% vs 0%, p=0.01). Conclusion: In this study, male gender, hypertension and diabetes mellitus affect coronary heart disease a lot; and we found genetic polymorphism of aldosterone synthase gene (CYP11B2-344C/T) may alter coronary artery disease onset in female.