Department of Cardiac Surgery, Fuwai Hospital Chinese Academy of Medical Sciences, Shenzhen, Guangdong, China.
Department of Cardiac Surgery, Shenzhen Sun Yat-sen Cardiovascular Hospital, Guangdong, China.
Biomed Res Int. 2020 Oct 2;2020:7857043. doi: 10.1155/2020/7857043. eCollection 2020.
In this study, the whole exome sequencing in human aortic dissection, a highly lethal cardiovascular disease, was investigated to explore the aortic dissection-associated genes and variants in Chinese population.
Whole exome sequencing was performed in 99 cases of aortic dissection. All single nucleotide polymorphisms (SNPs), insertions/deletions (InDels), and copy number variations (CNVs) were filtered to exclude the benign variants. Enrichment analysis and disease-gene correlation analysis were performed.
3425873 SNPs, 685245 InDels, and 1177 CNVs were identified, and aortic dissection-associated SNPs, InDels, and CNVs were collected. After the disease correlation analysis, 20 candidate genes were identified. Part of these genes such as , , and were consistent with previous studies, while , , , , , and were newly identified as candidate aortic dissection-associated genes.
The pathogenic and likely pathogenic variants in most of AD-associated genes (, , , , , , and ) were identified in our cohort study, and pathogenic CNVs involved in , family, and were also identified which are not detectable by other NGS analysis. The correlation between , , , , , , and aortic dissection was identified, and may play a key role in AD.
本研究对高度致命性心血管疾病——人类主动脉夹层进行全外显子测序，旨在探索中国人群中与主动脉夹层相关的基因和变异。
对 99 例主动脉夹层患者进行全外显子测序。过滤掉良性变异，筛选出单核苷酸多态性（SNP）、插入/缺失（InDel）和拷贝数变异（CNV）。进行富集分析和疾病-基因相关性分析。
鉴定出 3425873 个 SNP、685245 个 InDel 和 1177 个 CNV，并收集了与主动脉夹层相关的 SNP、InDel 和 CNV。经过疾病相关性分析，鉴定出 20 个候选基因。其中部分基因如、、和与既往研究一致，而、、、、、和则被新鉴定为候选的与主动脉夹层相关的基因。
在本队列研究中，大多数与 AD 相关的基因（、、、、、、和）中的致病性和可能致病性变异均被鉴定出来，涉及、家族和的致病性 CNV 也被鉴定出来，而这些变异无法通过其他 NGS 分析检测到。还鉴定了与主动脉夹层的相关性，并且可能在 AD 中发挥关键作用。
