Analysis of MMP‐7 and TIMP‐2 gene polymorphisms in coronary artery disease and myocardial infarction: A Turkish case‐control study

Abstract

Matrix metalloproteinase (MMP) and tissue inhibitors of metalloproteinase (TIMP) have a significant role in tissue remodeling related to cardiac function. In earlier studies, MMP-7 A-181G (rs11568818), C-153T (rs11568819), C-115T (rs17886546), and TIMP-2 G-418C (rs8179090) polymorphisms have been studied in various diseases. However, association between coronary artery disease (CAD) and these polymorphisms has been poorly studied. The goal of this study is to investigate the association of CAD and myocardial infarction (MI) with MMP-7 or TIMP-2 polymorphisms. This study included 122 CAD patients and 132 control individuals. DNA was extracted from whole blood. Polymerase chain reaction-restriction fragment length polymorphism and automated direct sequencing method were used for genotyping of these polymorphisms. No significant differences were found between MMP-7 A-181G, C-115T, and TIMP-2 G-418C polymorphism and CAD or MI in a Turkish population. Despite the fact that the genotypes of MMP-7 C-153T polymorphism had no significant differences among MI and control groups, allele frequencies of C-153T polymorphism were significantly different between the two groups. Our study is the first report to clarify the appreciable relationship between MMP-7 C-153T polymorphism and MI development in CAD patients. However, these findings also need to be confirmed in other populations so we can improve our knowledge about the genetic factors affecting the development of CAD.

TIMP2 Polymorphisms Association With Curve Initiation and Progression of Thoracic Idiopathic Scoliosis in the Caucasian Females

“…34,35 Variations in the TIMP2 DNA sequence have been associated with differing pathogeneses of many diseases, such as chronic obstructive pulmonary disease, 36 aortic aneurysms, 37 neoplasms, 35 and differing types of muscle-related conditions. [38][39][40][41] Our study was consistent with works by Jiang et al 21 and Ogura et al 22 as we also did not find any differences across our IS and non-IS groups for rs8179090. However, we could not confirm the relationship of this polymorphism with Cobb angle curvature, which could be explained by several aspects of our analysis.…”

“…The C allele has been confirmed associate with reduced transcription activity leading to lower TIMP2 gene expression due to changing consensus sequence affinity to Sp1 transcription factor binding site . Variations in the TIMP2 DNA sequence have been associated with differing pathogeneses of many diseases, such as chronic obstructive pulmonary disease, aortic aneurysms, neoplasms, and differing types of muscle‐related conditions …”

Role of MMP-1 (-519A/G, -1607 1G/2G), MMP-3 (Lys45Glu), MMP-7 (-181A/G), and MMP-12 (-82A/G) Variants and Plasma MMP Levels on Obesity-Related Phenotypes and Microvascular Reactivity in a Tunisian Population

“…It has also been found that subjects carrying the -181GG genotype have higher MMP-7 activity compared to those with the -181AA genotype [ 43 ]. This SNP has also been shown to correlate with the development of several kinds of tumors and chronic pancreatitis, as well as with coronary artery disease [ 44 ]. In this regard, Kesh and colleagues [ 43 ] showed increased expression of MMP-7 in cancer patients carrying the GG genotype.…”

Matrix Metalloproteinases in Age-Related Macular Degeneration (AMD)

“…Two reports evaluated the association between the TIMP-2 rs8179090 polymorphism and AMD [ 31 , 36 ], but only Oszajca et al [ 31 ] found any significant statistical association. The TIMP-2 rs8179090 polymorphism is an upstream variant that has been previously associated with cardiovascular diseases [ 190 , 191 , 192 ]. The variant could modify the gene expression and therefore modify the risk of the disease, although more in vitro and in vivo studies will be necessary to confirm this hypothesis.…”