A potential relationship between MMP-9 rs2250889 and ischemic stroke susceptibility

Area of Science:

• Genetics
• Neurology
• Molecular Biology

Background:

• Ischemic stroke (IS) is a significant cerebrovascular disease with considerable health impacts.
• Genetic factors play a crucial role in the development of IS.
• The Matrix Metallopeptidase 9 (MMP-9) gene is implicated in the pathophysiology of IS and serves as a potential biomarker.

Purpose of the Study:

• To investigate the association between Matrix Metallopeptidase 9 (MMP-9) gene polymorphisms and susceptibility to ischemic stroke (IS).
• To identify specific single nucleotide polymorphisms (SNPs) within the MMP-9 gene that may influence IS risk.

Main Methods:

• Genotyping of MMP-9 gene single nucleotide polymorphisms (SNPs) in 700 IS patients and 700 healthy controls using MassARRAY.
• Application of multifactor dimensionality reduction (MDR) to analyze SNP-SNP interactions.
• Statistical analysis of allele and genotype frequencies, odds ratios (ORs), and 95% confidence intervals (CIs) to assess IS susceptibility.

Main Results:

• The SNP rs2250889 in the MMP-9 gene was significantly associated with increased IS susceptibility across multiple genetic models (codominant, dominant, overdominant, log-additive).
• Stratification analysis revealed that rs2250889 is linked to IS risk in subgroups based on age, sex (female), smoking status, and alcohol consumption (non-drinking).
• MDR analysis identified rs2250889 as the most predictive model for IS risk, with a cross-validation consistency of 10/10 and an OR of 1.56.

Conclusions:

• This study provides preliminary evidence confirming a significant association between the MMP-9 gene polymorphism rs2250889 and susceptibility to ischemic stroke.
• The findings highlight the potential role of MMP-9 genetic variations in the etiology of IS.