Dataset Information

Matrix Metalloproteinase-9 Gene Polymorphism and Its Methylation in Stroke Patients.

ABSTRACT:

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.

SUBMITTER: Choudhari OK

PROVIDER: S-EPMC8715877 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:ContextThe exact factors that determine the biological behavior of odontogenic lesions have not been thoroughly established yet. The influence of the matrix metalloproteinases (MMPs) on the clinical behavior of these lesions was recently brought to light.AimsWe did a pioneer study to investigate the association of MMP9 (rs3918242 [-1562 C/T] and rs17576) and MMP2 (rs243865 [-1306 C/T] and rs865094) gene polymorphisms and aggressiveness of ameloblastomas, keratocystic odontogenic tumors (KCOT) and dentigerous cysts (DC).Settings and designA case-control study conducted in the Department of Oral Pathology and Microbiology, Government Dental College, Trivandrum and Human Molecular Genetics Laboratory, Rajiv Gandhi Institute of Biotechnology and Poojappura, Trivandrum, Kerala.Subjects and methodsDNA from the blood samples of histopathologically proven ameloblastoma (n = 15), KCOT (n = 11) and DC (n = 13) patients were extracted using standard protocols. Primers were designed based on the functionality and relevance for polymerase chain reaction (PCR). PCR products were analyzed by PCR-restriction fragment length polymorphism and sequencing.Statistical analysis usedChi-square analysis was done to assess the association of gene polymorphisms among the cases and controls.ResultsAmeloblastomas showed a higher frequency of mutant allele (T = 0.43; P = 0.05) of MMP9 rs3918242 (-1562C/T) compared to the control population. All the cases showed a statistically significant difference in the distribution of genotype (P = 0.046) and allele (P = 0.03; odds ratio [OR] = 2.06 [1.08-3.95]) frequency of MMP2 rs2438659 (-1306C/T). KCOT samples also showed a significant association in distribution of both genotype (P = 0.01) and allele (P = 0.01 with an OR at 3.42 [1.31-8.92]) frequency, on comparison with control population.ConclusionsMMP2 rs243865 polymorphism has a plausible role in increasing the aggressiveness of ameloblastomas and KCOT compared to that of the control population. Furthermore, MMP9 rs3918242 polymorphism may contribute to the aggressive behavior of ameloblastomas.