Determination of the role of Matrix Metalloproteinase-1 (-1607 1G/2G) gene variation in ischemic stroke development

Abstract

Objective: Matrix Metalloproteinase (MMP) family is one of the potential genetic risk factors for the development of cerebrovascular disease such as ischemic stroke. Excessive MMP-1 protein production occurs and MMP-1 enzyme activity increases as a result of MMP-1 (-1607 1G/2G) gene variation. Thus, the sensitivity to ischemic stroke can be modulated. Therefore, the purpose of our study is to investigate the effect of MMP-1 (-1607 1G/2G) gene variation in development of ischemic stroke disease in the Thrace population of Turkey. Methods:Our study was performed with 87 ischemic stroke patients and 80 healthy controls.Polymerase chain reaction (PCR) and restriction fragment length polymorphisms (RFLP) methods were used to determine genotype distributions of MMP-1 (-1607 1G/2G) gene variations.Results: In patient group, 1G/1G genotype (56.9%) and 1G/2G genotypes (55.1%) of MMP-1 (-1607 1G/2G) gene variation were observed higher compared to control group. However the significant difference was not determined between ischemic stroke patient and healthy control groups in terms of MMP-1 (-1607 1G/2G) gene variation genotype distributions (p=0.127, ns).Allele frequencies of MMP-1 (-1607 1G/2G) gene variation in ischemic stroke patient and healthy control groups were not found significantly different from the Hardy-Weinberg distribution (p= 0.6556, ns and p= 0.0501, ns respectively). Conclusion:1G/1G and 1G/2G genotypes of MMP-1 (-1607 1G/2G) gene variation were observed higher in ischemic stroke group compared to healthy control group. However, MMP-1 (-1607 1G/2G) gene variation was not determined as a genetic risk factor for development of ischemic stroke in Thrace population of Turkey.