龙浏城,向定成,肖华,张金霞,张妮,吴源锋

• 1:中国人民解放军第二军医大学
• 2:广州军区总医院心血管内科

摘要(Abstract)：

目的探讨汉族人群中原纤维蛋白-1基因(FBN-1)rs2118181位点的多态性与散发性急性主动脉综合征(AAS)的关系。方法从206例AAS患者和209例对照组对象的外周静脉全血提取基因组DNA,对目标片段进行PCR扩增后,利用双脱氧链终止法进行测序,分析rs2118181位点的等位基因类型。结果 AAS组和主动脉壁间血肿(IMH)亚组的TT基因型的频率显著高于对照组,差异有统计学意义(P<0.05)。显性基因型模型显示,携带C等位基因的个体罹患AAS(OR0.66,95%CI 0.45~0.98,P=0.040)尤其是IMH(OR 0.46,95%CI 0.24~0.87,P=0.016)的风险显著低于TT基因型个体;在校正年龄、性别、体质量指数、高血压病、吸烟史、糖尿病等危险因素后,logistic回归分析显示C等位基因个体罹患AAS的风险仍低于非携带个体(OR 0.66,95%CI 0.44~0.99,P=0.048)。IMH亚组与主动脉夹层亚组患者的FBN-1 rs2118181位点基因分布比较,差异无统计学意义(P>0.05)。结论 FBN-1 rs2118181基因多态性与中国汉族人群散发性AAS,尤其散发性IMH的发病可能相关,TT基因型是散发性AAS,尤其是散发性IMH的遗传易感因素之一。

关键词(KeyWords)： 急性主动脉综合征;主动脉夹层;主动脉壁间血肿;单核苷酸多态性

Abstract:

Keywords:

基金项目(Foundation): 广州市科技计划项目(201508020043)

作者(Author): 龙浏城,向定成,肖华,张金霞,张妮,吴源锋

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