主动脉夹层假腔远端动脉瘤样扩张与临床和基因的相关性  

Study on the correlation between DAEAD and clinic and gene

作　　者：许鼎 鲍贤豪 张恒[2] 刘鹏 马鹏程 徐子依 陆烨 刘军军[2] 郭明金[2] 冯睿 景在平 冯家烜 Xu Ding;Bao Xianhao;Zhang Heng;Liu Peng;Ma Pengcheng;Xu Ziyi;Lu Ye;Liu Junjun;Guo Mingjin;Feng Rui;Jing Zaiping;Feng Jiaxuan(Department of Vascular Surgery,the First Affiliated Hospital of Naval Military Medical University of the People's Liberation Army,Shanghai 200433,China;Department of Vascular Surgery,the Affiliated Hospital of Qingdao University,Qingdao 266555,China;Department of Vascular Surgery,Shanghai General Hospital,Shanghai 200940,China)

机构地区：[1]解放军海军军医大学第一附属医院血管外科,上海200433 [2]青岛大学附属医院血管外科,青岛266555 [3]上海市第一人民医院介入中心血管外科,上海200940

出　　处：《血管与腔内血管外科杂志》2021年第11期1307-1313,共7页Journal of Vascular and Endovascular Surgery

基　　金：国家自然科学基金(81970208)。

摘　　要：目的 探讨主动脉夹层假腔远端动脉瘤样扩张(DAEAD)与临床和基因的相关性.方法 收集2013年4月至2020年10月于解放军海军军医大学第一附属医院主动脉夹层近端破裂口治疗后患者外周血样本中的基因表达谱和影像等临床资料.根据随访转归情况分为DAEAD组(n=12)和非DAEAD组(n=5).统计并比较两组患者围手术期结果和致病基因分析,并与数据库中健康人群的健康对照组等位基因进行比对.结果 DAEAD组腹腔干平面、左肾动脉平面和右肾动脉平面的假腔长径和短径长于非DAEAD组,肾下最大平面的假腔短径长于非DAEAD组,差异有统计学意义(P<0.05).基因分析显示,DAEAD组患者致病变异率为58.3%(7/12),非DAEAD组中没有发现致病变异.同时DAEAD组患者发现3个意义未知的变异体(VUS);进一步将VUS风险变量分析扩展到与主动脉瘤和夹层相关重要途径中,结果显示,DAEAD组和非DAEAD组的细胞外基质途径的VUS变异多于健康对照组,差异有统计学意义(P<0.05).结论 携带主动脉疾病的致病基因与DAEAD的发生密切相关,故对于携带相关基因突变的患者可能需要更加密切随访.Objective To explore the clinical and genetic correlation of aortic dissection with false lumen distal aneurysmal dilatation(DAEAD).Method From April 2013 to October 2020,after treatment or treatment in the First Affiliated Hospital of Naval Military Medical University of the People's Liberation Army,clinical data such as gene expression profile in peripheral blood samples and imaging of patients after treatment of proximal rupture of aortic dissection were followed up.According to the outcome of follow-up,they were divided into DAEAD group(n=12)and non-DAEAD group(n=5).The perioperative results and pathogenic gene analysis of the two groups of patients were counted and compared.The alleles with the healthy control group of healthy people in the database were compared.Result The long diameter and short diameter of the false lumen in the abdominal trunk plane,the left renal artery plane and the right renal artery plane in the DAEAD group were longer than those in the non-DAEAD group,and the short diameter of the false lumen in the largest plane under the kidney was longer than that in the non-DAEAD group.The difference was statistically significant(P<0.05).Genetic analysis showed that the pathogenic variant rate was 58.3%(7/12)in the DAEAD group,and no pathogenic variant was found in the non-DAEAD group.At the same time,three variants of unknown significance(VUS)were found in the DAEAD group;the analysis of VUS risk variables was further extended to the important pathways related to aortic aneurysm and dissection,showing the VUS variants of the extracellular matrix pathway in the DAEAD group and the non-DAEAD group more than the healthy control group,the difference was statistically significant(P<0.05).Conclusion The pathogenic genes of aortic disease are closely related to the occurrence of DAEAD,so patients with related gene mutations may need to be followed up more closely.

关 键 词：主动脉夹层 主动脉夹层假腔远端动脉瘤样扩张 基因 

分 类 号：R543[医药卫生—心血管疾病]