Effects of MMP-1 and MMP-3 gene polymorphisms on gene expression and protein level in lumbar disc herniation

Abstract

ABSTRACT. The aim of this study was to identify the possible correlation between polymorphisms in matrix metalloproteinase (MMP)-1 and MMP-3 and their corresponding protein levels in disc 2 B. Eser et al. Genetics and Molecular Research 15 (3): gmr.15038669 tissues obtained from patients with lumbar disc herniation (LDH) using biochemical and immunohistochemical analyses. Blood and disc samples were obtained from 100 patients with LDH who underwent a lumbar microdiscectomy. Based on the radiological degeneration, the patients were diagnosed with grade 2, 3, or 4 LDH. MMP-1 -1607 1G/2G and MMP-3 -1171 5A/6A were analyzed by real-time polymerase chain reaction. The expressions of MMP-1 and MMP-3 were detected by biochemical and immunohistochemical analyses. We found no association between the MMP-1 polymorphism and disc degeneration and MMP-1 expression. However, patients expressing the 6A/6A and 5A/6A alleles of MMP-3 -11715A/6A showed higher MMP-3 expression, compared to those expressing the 5A/5A genotype. Additionally, the radiological degeneration grades were correlated with the histological degeneration scoring. Protein levels and immunopositive cell rates of MMP-1 and MMP-3 were associated with disc degeneration grades. Moreover, the MMP-1 and MMP-3 expression and the histological and radiological scores were positively correlated and the MMP-3 -11715A/6A polymorphism was associated with MMP-3 expression in herniated disc tissues. This study is the first to investigate polymorphisms in MMP-1 and MMP-3, as well as their corresponding protein expressions. We also quantified an association between the radiological degeneration grades and MMP-1 and MMP-3 expression. Further genomic studies on MMPs could focus on the utilization of MMP-1 and MMP-3 as markers for the prevention and treatment of this disease.

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

“…Among MMPs, MMP-1, MMP-3, MMP-7, and MMP-12 genes have been found to affect adipose tissue remodeling and obesity-related metabolic traits [ 19 ]. Genetic variations in MMP genes have also been reported as key regulators of MMP protein expression in several diseases [ 20 , 21 ]. Up to now, only a few studies have determined, however, the link between SNPs in MMP genes and the emergence of obesity.…”

Variants of ACAN are associated with severity of lumbar disc herniation in patients with chronic low back pain

“…The “T” allele of the rs1042631 variant of ACAN is associated with signal intensity of the disc and increased the frequency of disc herniation among the Finnish population [ 8 ]. Although the MMP1 and MMP3 are associated with disc herniation [ 9 , 10 ], relationships of SNVs of the ADAMTS4 , ADAMTS5 , TIMP1 , TIMP2 and TIMP3 with the severity of disc herniation need to be explored.…”

Genetic Aspects of Idiopathic Escoliosis - A Literature Review

“…This change has been associated with the development of conditions that favor the development of IS. [28][29][30] Genetic polymorphism in the MMP-3 promoter gene has been reported to be involved in MMP-e expression. Gene regulation and certain alleles, such as 5A, have been indicated as risk factors for the acceleration of degenerative lumbar disc changes.…”