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Updated: Jul 5, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

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患有胸腔大动脉动脉瘤和剖析的患者中遗传变异和深度表型的患病率:一个横截面单中心队列研究

Adrian Mahlmann^1,2, Nesma Elzanaty³, Mai Saleh⁴

¹Department of Internal Medicine III, University Hospital Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany.

Journal of clinical medicine

|January 23, 2024

概括

在胸前大动脉疾病中,遗传变异很常见,但与特定的患者特征或疾病严重程度无关. 需要进一步的研究来了解它们在大动脉动脉瘤和剖析中的作用.

科学领域:

心血管遗传学心血管遗传学
大动脉疾病研究研究
基因组医学是基因组医学.

背景情况:

关于胸前动脉动脉瘤和剖析的遗传因素的证据有限.
研究基因变异对于了解疾病机制至关重要.

研究的目的:

确定患有胸前大动脉动脉瘤和剖析的患者中遗传变异的流行率.
评估遗传变异和临床表型之间的关联.

主要方法:

对95名接受大动脉修复的患者进行了横截面队列研究.
利用下一代测序和桑格测序进行遗传分析.
收集了全面的临床,家族和表型数据.

主要成果:

40%的患者有不确定的意义的变异;18%的患者有经典突变.
在变体和心血管/表型得分之间没有发现显著的关联.
遗传变异与较高的关节功能得分 (p=0.015) 之间观察到一种积极的关联.

结论:

在患有胸前大动脉病理的患者中,经常检测到遗传变异.
这些变体在大动脉疾病中的作用可能比以前理解的要重要得多.
鉴定出的变异与特定的表型,年龄,病理,性别或家族史无关联.

关键词:

动脉动脉瘤是一个动脉瘤.解剖解剖解剖解剖遗传突变是一种基因突变.遗传变异是一种遗传变异.现象型现象型是一种现象型.胸前大动脉疾病胸前大动脉疾病

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