冠狀動脈疾病與PCSK9之基因多型性研究

Study on coronary artery disease and polymorphism of PCSK9

江世民(Shih-Min Chiang)

指導教授 ： 楊順發

共同指導教授 ： 翁國昌(Kwo-Chang Ueng)

中山醫學大學/醫學院/醫學研究所/博士(2021年)

https://doi.org/10.6834/csmu202100184

摘要

冠狀動脈疾病是全球死亡率和發病率的主要原因。對於前蛋白轉化酶枯草溶菌素/ kexin 9型 (proprotein convertase subtilisin/kexin type 9 gene；PCSK9) 基因的變異是否為冠狀動脈疾病的危險因素，其相關研究提供了有爭議性的結果。在我們的研究中，我們評估了台灣人群中，危險因子與PCSK9基因型和冠狀動脈疾病的相關性。因此，我們納入了501位經由血管攝影檢查診斷為冠狀動脈疾病患者，與334位沒有患有冠狀動脈疾病的對照。本研究進行了PCSK9 rs505151以及rs529787的兩個單一核苷酸基因多形性進行基因分型。結果發現，攜帶PCSK9 rs505151 AG+GG基因型者，有冠狀動脈疾病家族史的人其患病率顯著更高。另外，在有冠狀動脈疾病家族史的患者中，相較於攜帶PCSK9 rs505151 AA基因型者 (39.2%)，攜帶有AG+GG基因型者 (73.3%) 其糖尿病患病率也有顯著較高的現象。總而言之，攜帶有PCSK9 rs505151 AG基因型者的冠狀動脈疾病患者與糖尿病以及冠狀動脈疾病家族史有相關。

關鍵字

冠狀動脈疾病 ； 前蛋白轉化酶枯草溶菌素/ kexin 9型 (proprotein convertase subtilisin/kexin type 9 gene ； PCSK9)

並列摘要

Coronary artery disease (CAD) is the principal cause of mortality and morbidity worldwide. Studies have provided controversial results regarding whether variations in the proprotein convertase subtilisin/kexin type 9 gene (PCSK9) are risk factors for CAD. In this study, we evaluated the risk factors associated with PCSK9 genotypes and CAD in the Taiwanese population. A total of 501 patients diagnosed with CAD by angiography and 334 CAD-free controls were recruited. Two single nucleotide polymorphisms of PCSK9 (rs505151 and rs529787) were genotyped. The prevalence of a positive family history for CAD was significantly higher in individuals carrying the AG + GG genotype of the PCSK9 rs505151 polymorphism. Among CAD patients with a positive family history, the prevalence of diabetes mellitus was significantly higher in those carrying the AG + GG genotype of the PCSK9 rs505151 polymorphism (73.3%) than in those carrying the AA genotype (39.2%). In conclusion, in CAD patients, the AG genotype of PCSK9 rs505151 is associated with diabetes and a positive family history of CAD.

並列關鍵字

Coronary artery disease (CAD) ； proprotein convertase subtilisin/kexin type 9 gene (PCSK9)

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