Study on Susceptibility Genes and Pathogenic Mechanism of Non-syndromic Familial Aortic Dissection

Chinese Medical Association

Status: Unknown

Conditions: Family Research; Aortic Dissection; Aortic Dissection, Familial, With or Without Aortic Aneurysm

Treatments: Genetic: movement

Study type: Observational

Funder types: NETWORK

Identifiers

NCT04439565

https://orcid.org/0000-0002-05

Details and patient eligibility

About

Aortic dissection is dangerous and difficult to predict, so it is particularly important to carry out early prevention, diagnosis and rational treatment for high-risk groups. The related genes found in previous studies can not be detected in all patients with dissection; at present, the pathogenesis of non-syndromic aortic dissection is not clear, of which about 20% of patients have family aggregation and have the general representative characteristics of non-syndromic dissection. In this project, the peripheral blood samples of core family subjects were detected by sequencing technique. analyze disease-related susceptibility genes; 2 determine the effect of susceptibility genes on the incidence of dissection in mice through animal experiments; and 3 explore the effect of susceptibility genes on cell function at the cellular level.

Enrollment: 100 estimated patients

Sex: All

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Family inclusion criteria: 1 at least one person in each generation of a family has aortic dissection, and at least two generations of members can be included;

Exclusion criteria

• Pedigree exclusion criteria: pedigree members have marfan syndrome, Loeys-Dietz syndrome, Ehler-Danlos syndrome, aneurysm-Osteoarthritis syndrome and other syndroms