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

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

Recruiting
100 years and younger
All
Phase N/A

Overview

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.

Eligibility

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

Study details
    Family
    Aneurysm
    Aneurysm
    Aortic Dissection
    Familial
    With or Without Aortic Aneurysm

NCT04439565

Chinese Medical Association

16 February 2024

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