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Angiotensin-converting enzyme I/D polymorphism and the risk of thoracic aortic dissection in Chinese Han population
Quanmin Jing1, Xiaozeng Wang, Yingyan Ma
1Cardiovascular Research Institute and Department of Cardiology, Shenyang Northern Hospital, 83 Wenhua Road, Shenyang, China.
Insights
The I/D polymorphism of the angiotensin-converting enzyme (ACE) gene is associated with an increased risk of thoracic aortic dissection (TAD). This finding suggests ACE gene variations may contribute to TAD development in the Chinese Han population.
Area of Science:
- Cardiovascular Genetics
- Molecular Biology
- Epidemiology
Background:
- Thoracic aortic dissection (TAD) is a life-threatening cardiovascular condition with a suspected genetic component.
- The renin-angiotensin system is implicated in the development of aortic diseases.
Purpose of the Study:
- To investigate the association between the angiotensin-converting enzyme (ACE) I/D polymorphism and the risk of TAD.
- To evaluate the ACE I/D polymorphism's role in the pathogenesis of TAD within the Chinese Han population.
Main Methods:
- A hospital-based case-control study was conducted.
- 161 TAD patients and 256 control subjects were recruited.
- ACE I/D polymorphism genotyping was performed using polymerase chain reaction (PCR).
Main Results:
- A significant difference in ACE I/D genotype distribution was observed between TAD patients and controls.
- Patients with TAD showed a higher frequency of the DD genotype and the D allele of the ACE gene.
- Multivariate logistic regression revealed a significant association between ACE I/D polymorphism and TAD susceptibility (OR 2.14, P=0.001).
Conclusions:
- The ACE I/D polymorphism is identified as a potential risk factor for thoracic aortic dissection.
- Further large-scale population-based studies are warranted to validate these findings and confirm the association.
Abstract:
Thoracic aortic dissection (TAD) is a catastrophic cardiovascular disease and is thought to have a genetic basis. Various studies have indicated that renin-angiotensin system plays an important role in the pathogenesis of aortic disease. To determine the association of the I/D polymorphism of ACE gene with the risk of TAD in a Chinese Han population, a hospital-based case-control study was designed consisting of 161 subjects with TAD and 256 control subjects. The genotype frequency of the ACE I/D polymorphism was determined by using a polymerase chain reaction assay. The overall distribution of ACE I/D genotypes was significantly different between the two groups. Compared with the controls, the frequency of DD genotypes and the D allele of ACE gene were significantly increased in TAD patients. Multivariate logistic regression adjusting for conventional vascular risk factors confirmed the association between the ACE I/D polymorphism and the susceptibility to TAD (OR 2.14, 95 % CI 1.38-3.32, P = 0.001). Our data demonstrated that the ACE I/D polymorphism appeared to be an important risk factor in the development of TAD. However, further validation in large population-based studies is needed to confirm the finding.
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