Related Experiment Video

Updated: Apr 18, 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-9 gene polymorphisms with Behçet's disease risk

Abir Naouali1, Wajih Kaabachi1, Kalthoum Tizaoui1

  • 1Department of Basic Sciences, Medicine Faculty of Tunis, University Tunis El Manar, Tunis 1007, Tunisia.

Immunology Letters
|February 3, 2015
PubMed

Insights

Genetic variations in the matrix metalloproteinase-9 (MMP-9) gene are linked to Behçet disease (BD) susceptibility. Specifically, the MMP-9 2003 G/A polymorphism increases BD risk, particularly in women, while other polymorphisms show protective effects.

Area of Science:

  • Genetics
  • Immunology
  • Rheumatology

Background:

  • Matrix metalloproteinases (MMPs), particularly MMP-9, play a crucial role in aneurysm formation.
  • Aneurysm formation is a significant clinical manifestation in Behçet disease (BD).
  • Genetic polymorphisms in MMP-9 may influence susceptibility to BD.

Purpose of the Study:

  • To investigate the association between four single nucleotide polymorphisms (SNPs) in the MMP-9 gene and BD risk in a Tunisian population.
  • To analyze the association of MMP-9 gene polymorphisms (-1562 C/T, 2003 G/A, 836 A/G, and 1721 C/G) with BD susceptibility.
  • To explore gender-specific associations and the role of MMP-9 serum levels in BD patients.

Main Methods:

  • A case-control study involving 240 BD patients and 288 healthy controls from Tunisia.
  • Genotyping of MMP-9 gene polymorphisms using polymerase chain-reaction (PCR) and restriction fragment length polymorphism (RFLP).
  • Statistical analysis including subgroup analysis by gender and haplotype analysis.

Main Results:

  • The MMP-9 -1562 C/T polymorphism (rs3918242) showed no association with BD risk.
  • The MMP-9 2003 G/A polymorphism (rs17577) was significantly associated with increased BD susceptibility, especially in women.
  • The MMP-9 1721 C/G polymorphism (rs2250889) demonstrated a protective role against BD in both genders. The MMP-9 836 A/G polymorphism was protective in men.
  • Elevated MMP-9 serum levels were observed in BD patients with ocular lesions.

Conclusions:

  • The MMP-9 2003 G/A polymorphism is a risk factor for BD, particularly in women.
  • The MMP-9 1721 C/G and 836 A/G polymorphisms may confer a protective effect against BD development in a gender-specific manner.
  • MMP-9 serum levels might be relevant in BD patients with ocular manifestations, warranting further investigation.
Keywords:
Behçet's diseaseMatrix metalloproteinases-9Single nucleotide polymorphism

More Related Videos

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

12.4K
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

Related Concept Videos

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
132
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
72
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
98
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...
17.1K
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,...
20.3K
Inflammatory Bowel Disease III: Crohn's Disease01:25

Inflammatory Bowel Disease III: Crohn's Disease

Crohn’s disease is a chronic, relapsing form of inflammatory bowel disease characterized by segmental, transmural inflammation that can affect any part of the gastrointestinal tract. Its pathogenesis arises from a combination of genetic susceptibility, environmental exposures, epithelial barrier dysfunction, and immune dysregulation. Together, these factors lead to an exaggerated immune response against components of the gut microbiome.Genetic and Environmental InfluencesMultiple genetic...
2