Related Experiment Video

Updated: Mar 27, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
07:00

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

10.6K

Association of MMP-2 gene haplotypes with thoracic aortic dissection in chinese han population

Ou Liu1, Jiachen Li1, Yi Xin2

  • 1Department of Cardiovascular Surgery, Beijing An Zhen Hospital, Capital Medical University, Beijing, 100029, China.

BMC Cardiovascular Disorders
|January 15, 2016
PubMed
Abstract

Insights

Matrix metalloproteinase-2 (MMP-2) gene variations, specifically MMP-2 haplotypes, are linked to genetic susceptibility for thoracic aortic dissection (TAD) in the Chinese Han population.

Area of Science:

  • Genetics
  • Cardiovascular Disease Research
  • Molecular Biology

Background:

  • Thoracic aortic dissection (TAD) is a life-threatening condition.
  • Matrix metalloproteinase-2 (MMP-2) plays a role in TAD development.

Purpose of the Study:

  • To investigate the association between the MMP-2 gene and TAD risk in the Chinese Han population.

Main Methods:

  • A case-control study involving 315 TAD cases and 440 controls.
  • Genotyping of 22 tag SNPs within the MMP-2 gene.
  • Logistic regression analysis of genotype data.

Main Results:

  • No significant association found for individual MMP-2 SNPs.
  • Significant differences in haplotype frequencies observed between cases and controls.
  • A 2-SNP window (rs2241145 and rs9928731) showed the strongest association (P = 7.48 × 10⁻⁵).
  • Two protective haplotypes (CT and GC) identified with odds ratios of 0.403 and 0.448, respectively.

Conclusions:

  • MMP-2 gene variations, particularly haplotypes, are associated with genetic susceptibility to thoracic aortic dissection (TAD).
  • Findings suggest MMP-2 as a potential genetic marker for TAD risk in this population.

More Related Videos

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

4.4K
CRISPR Gene Editing Tool for MicroRNA Cluster Network Analysis10:40

CRISPR Gene Editing Tool for MicroRNA Cluster Network Analysis

Published on: April 25, 2022

3.0K

Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
16.6K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
19.8K
Aneurysm II: Clinical Manifestations and Diagnostic Studies01:21

Aneurysm II: Clinical Manifestations and Diagnostic Studies

Thoracic, aortic arch and abdominal aneurysms are significant vascular conditions that can present with various clinical manifestations and lead to serious complications. Understanding these manifestations and the appropriate diagnostic studies is essential for effective management and treatment.Thoracic Aortic AneurysmsThoracic aortic aneurysms often remain asymptomatic until they reach a size that impinges on adjacent structures. They typically cause deep, diffuse chest pain that radiates to...
512
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
687