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Matrix Metalloproteinase-9 Gene Polymorphism and Its Methylation in Stroke Patients
Omkar Kalidasrao Choudhari1, Anita Rani1, Geeta Kampani1
1Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India.
Background:
Genetic and environmental factors, along with hypertension, diabetes mellitus and smoking cause accelerated atherosclerosis and, eventually, stroke. Matrix metalloproteinase-9 (MMP-9) are inflammatory mediators of the endoproteinase family, and their polymorphism and methylation are associated with the development of atherosclerosis and stroke. This study explores this association in the Indian population.
Objective:
To study the association of MMP gene polymorphism and methylation with the risk of stroke.
Methods:
A case-control study was conducted on 100 admitted patients (both genders) diagnosed with ischaemic stroke. Another 100 healthy subjects, not suffering from any chronic illness or stroke, were taken as controls. All participants were genotyped for rs3918242 (MMP-9) by polymerase chain reaction (PCR) and restriction fragment length polymorphism. Methylation of the MMP-9 gene-promoter region was assessed by methylation-specific PCR.
Results:
The case (mean age = 61.3 ± 7.36 years old) and control (mean age = 60.68 ± 7.1 years old) groups were age-matched. Among cases, 61 patients were smokers, 55 were diabetic and 53 were hypertensive. A significant risk of ischaemic stroke was associated with the CT genotype (adjusted odds ratio [aOR] = 7.09; P < 0.001), TT genotype (aOR = 19.75; P < 0.001) and T allele (aOR = 10.71; P < 0.001). MMP-9 methylation decreased the risk of stroke (aOR = 0.23; P < 0.001).
Conclusion:
MMP-9 gene-1562C/T polymorphism (SNP rs3918242) (single-nucleotide polymorphism [SNP] rs3918242) is a potential marker to predict ischaemic stroke and constitutes a significant proportion of the general population. Its polymorphism predisposes to ischaemic stroke, while its methylation is protective.
Insights
Matrix metalloproteinase-9 (MMP-9) gene polymorphism is linked to increased ischemic stroke risk in the Indian population. However, MMP-9 gene promoter methylation appears to be protective against stroke.
Area of Science:
- Genetics and Molecular Biology
- Cardiovascular Research
- Epidemiology
Background:
- Accelerated atherosclerosis and stroke are influenced by genetic and environmental factors, including hypertension, diabetes, and smoking.
- Matrix metalloproteinase-9 (MMP-9), an inflammatory mediator, exhibits polymorphism and methylation associated with atherosclerosis and stroke risk.
- This study investigates the role of MMP-9 gene variations in the Indian population's stroke development.
Purpose of the Study:
- To investigate the association between Matrix metalloproteinase-9 (MMP-9) gene polymorphism and methylation and the risk of stroke.
- To identify potential genetic markers for predicting ischemic stroke risk in the Indian population.
Main Methods:
- A case-control study involving 100 ischemic stroke patients and 100 healthy controls from the Indian population.
- Genotyping of the MMP-9 gene rs3918242 polymorphism using polymerase chain reaction (PCR) and restriction fragment length polymorphism.
- Assessment of MMP-9 gene promoter methylation using methylation-specific PCR.
Main Results:
- Age-matched case and control groups showed significant associations between MMP-9 gene polymorphism and ischemic stroke risk.
- The CT genotype (aOR=7.09), TT genotype (aOR=19.75), and T allele (aOR=10.71) of MMP-9 were significantly associated with increased stroke risk (P<0.001).
- MMP-9 gene promoter methylation was found to be protective, significantly decreasing stroke risk (aOR=0.23, P<0.001).
Conclusions:
- The MMP-9 gene-1562C/T polymorphism (SNP rs3918242) is a potential predictive marker for ischemic stroke in the Indian population.
- MMP-9 gene polymorphism predisposes individuals to ischemic stroke, affecting a significant proportion of the general population.
- MMP-9 gene promoter methylation demonstrates a protective effect against ischemic stroke.
