Matrix metalloproteinases gene variants in idiopathic disseminated bronchiectasis
Marija Stankovic1, Aleksandra Nikolic, Aleksandra Divac
1Institute of Molecular Genetics and Genetic Engineering, Belgrade, Serbia. marijast@imgge.bg.ac.rs
Background:
The excess of matrix metalloproteinases (MMPs) might be associated with the airways destruction or dilatation in bronchiectasis. The functional promoter polymorphisms of MMP1 and MMP9 genes, involved in the extracellular matrix remodeling, might increase the expression of MMPs leading to the development of bronchiectasis.
Methods:
Detection of MMP1 G-1607GG and MMP9 C-1562T gene variants was performed on 37 patients with idiopathic disseminated bronchiectasis and 102 control subjects. We also described a novel method for simple and rapid detection of MMP1 G-1607GG polymorphism.
Results:
The frequency of -1607GG allele was significantly higher in the group of patients than in control subjects (P = 0.014). The heterozygote genotype showed association with bronchiectasis (odds ratio, 5.3; 95% confidence intervals, 1.4-20.0). The association was even stronger in homozygotes for -1607GG allele (odds ration, 8.7; 95% confidence intervals, 1.9-41.0). The allelic and genotype frequencies of MMP9 C-1562T variant did not show significant differences between the groups.
Conclusions:
This is the first report concerning a role of MMP1 G-1607GG and MMP9 C-1562T variants in pathogenesis of idiopathic disseminated bronchiectasis. The results of our study revealed the association of -1607GG allele and the lack of association of MMP9 C-1562T variant with the disease.
Insights
Genetic variants in the matrix metalloproteinase 1 (MMP1) gene are associated with idiopathic disseminated bronchiectasis. The MMP1 G-1607GG allele increases the risk of developing this airway disease.
Area of Science:
- Genetics
- Pulmonology
- Biochemistry
Background:
- Excess matrix metalloproteinases (MMPs) may contribute to airway destruction in bronchiectasis.
- Functional genetic variations in MMP1 and MMP9 genes influence extracellular matrix remodeling and MMP expression, potentially leading to bronchiectasis.
Purpose of the Study:
- To investigate the association of MMP1 G-1607GG and MMP9 C-1562T gene variants with the pathogenesis of idiopathic disseminated bronchiectasis.
- To introduce a novel, rapid method for detecting MMP1 G-1607GG polymorphism.
Main Methods:
- Genotyping of MMP1 G-1607GG and MMP9 C-1562T variants in 37 patients with idiopathic disseminated bronchiectasis and 102 controls.
- Development and description of a new technique for detecting MMP1 G-1607GG polymorphism.
Main Results:
- The MMP1 -1607GG allele was significantly more frequent in bronchiectasis patients compared to controls (P = 0.014).
- Both heterozygous and homozygous genotypes for the MMP1 -1607GG allele showed a significant association with bronchiectasis (ORs 5.3 and 8.7, respectively).
- No significant differences in allelic or genotype frequencies of the MMP9 C-1562T variant were observed between patients and controls.
Conclusions:
- This study is the first to report a role for MMP1 G-1607GG and MMP9 C-1562T variants in the pathogenesis of idiopathic disseminated bronchiectasis.
- The MMP1 -1607GG allele is associated with an increased risk of developing idiopathic disseminated bronchiectasis, while the MMP9 C-1562T variant shows no association.
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