Matrix metalloproteinase 2 polymorphisms in a caucasian population with abdominal aortic aneurysm

Area of Science:

• Vascular Biology
• Genetics
• Cardiovascular Disease

Background:

• Abdominal aortic aneurysm (AAA) involves extracellular matrix (ECM) remodeling and vascular wall breakdown.
• Matrix metalloproteinase 2 (MMP2) is a key protease in ECM remodeling and is upregulated in AAA walls.
• Investigating MMP2 genetic variants' role in AAA etiology is crucial.

Purpose of the Study:

• To investigate the potential impact of genetic variants in the matrix metalloproteinase 2 (MMP2) gene on the development of abdominal aortic aneurysm (AAA).

Main Methods:

• A case-control study analyzed MMP2 single-nucleotide polymorphisms (SNPs) in 51 AAA patients and 48 controls.
• Sequencing of the entire coding region and three promoter parts of the MMP2 gene was performed.
• Genotype and allele frequencies of identified polymorphisms were compared between groups.

Main Results:

• Eighteen MMP2 polymorphisms were identified, including 6 novel variants (3 intronic, 3 coding).
• No statistically significant differences in genotype or allele frequencies were observed between AAA patients and controls.
• Identified polymorphisms include c.IVS1+31C>G, c.IVS7-18G>A, c.IVS10+26C>T, c.124G>A, c.1368C>T, and c.1860C>T.

Conclusions:

• Analysis of the MMP2 gene's coding region and promoter did not reveal an association between genetic polymorphisms and AAA.
• These findings suggest that variations within the MMP2 gene do not contribute to the pathogenesis of abdominal aortic aneurysm.
• Further research may explore other genetic factors or pathways involved in AAA development.