Matrix metalloproteinase-9 coding sequence single-nucleotide polymorphisms in caucasians with intracranial aneurysms

Area of Science:

• Genetics
• Neurology
• Molecular Biology

Background:

• Matrix metalloproteinases (MMPs), especially MMP-9, are implicated in intracranial aneurysm pathogenesis.
• Genetic variants in the MMP-9 promoter region have been linked to aneurysms.
• Investigating coding region variants is crucial to understand MMP-9's role.

Purpose of the Study:

• To investigate the association between single-nucleotide polymorphisms (SNPs) in the coding region of the MMP-9 gene and the development of intracranial aneurysms.
• To analyze SNPs in the 3' untranslated region of MMP-9 for potential links to aneurysm formation.

Main Methods:

• Direct sequencing of all 13 exons and the 3' untranslated region of the MMP-9 gene.
• Case-control study involving 40 Caucasian patients with intracranial aneurysms and 44 controls.
• Genotype frequency analysis and Hardy-Weinberg disequilibrium testing for identified SNPs.

Main Results:

• Eleven SNPs were identified in the coding region, intronic sequences, and the 3' untranslated region of the MMP-9 gene.
• Four SNPs were in Hardy-Weinberg disequilibrium, precluding accurate haplotype frequency estimation.
• No significant differences in genotype frequencies were found between cases and controls for any of the 11 analyzed SNPs.

Conclusions:

• Single-nucleotide polymorphisms (SNPs) within the coding and 3' untranslated regions of the MMP-9 gene are not associated with intracranial aneurysms in the studied Caucasian population.
• The findings suggest that genetic variations in these specific regions of MMP-9 do not contribute to aneurysm development.