Aortic dissection (AD) is a heterogeneous genetic disease with high morbidity and mortality. Although many genes predispose patients to AD, the pathogenic spectrum remains incomplete. This study aims to (a) investigate whether genotype differences exist between Stanford A and B AD individuals, and (b) broaden the pathogenic genetic spectrum of AD and reported novel variants of AD-associated genes. The DNA of 72 unrelated Han Chinese individuals with AD was tested by whole-exome sequencing. Of 142 AD-associated genes, 10 pathogenic variants, and 48 likely pathogenic variants in 36 genes were identified among 39 cases. The diagnostic yield was 54.2%. Of the 58 positive variants, 27 were novel. FBN1 was the most frequently positive gene in both Stanford A and Stanford B. Twenty-seven positive variants from 18 COL family genes were distributed in 36.8% of Stanford A and 6.7% of Stanford B cases. We emphasize that positive variants of COL family genes show distribution predominance and strong pathogenicity in Stanford A, while positive variants of smooth muscle cell pathway genes present distribution advantages mainly in Stanford B cases. Our findings provide a new perspective for both the pathogenic mechanism and the treatment of AD.

中文翻译：

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使用下一代测序技术研究72位汉族个体的主动脉夹层的遗传致病性。

主动脉夹层（AD）是一种具有高发病率和死亡率的异质性遗传疾病。尽管许多基因使患者容易患AD，但其致病谱仍然不完整。这项研究旨在（a）研究斯坦福大学A和B AD个体之间是否存在基因型差异，以及（b）拓宽AD的致病性遗传谱并报道AD相关基因的新变体。通过全外显子组测序检测了72名无亲属汉族AD患者的DNA。在142个与AD相关的基因中，在39例病例中鉴定出36个基因中的10个致病变体和48个可能的致病变体。诊断产率为54.2％。在58种阳性变异中，有27种是新颖的。FBN1是斯坦福大学A和斯坦福大学B中最​​常见的阳性基因。来自18个COL家族基因的27个阳性变异体分布在36个中。斯坦福大学A病例为8％，斯坦福大学B病例为6.7％。我们强调，COL家族基因的阳性变异在斯坦福A中显示出分布优势和强烈的致病性，而平滑肌细胞途径基因的阳性变异在斯坦福B病例中主要表现出分布优势。我们的发现为AD的致病机理和治疗提供了新的视角。