Analysis of Mmp2-1306C/T and Timp2G-418C Polymorphisms with Relapsing Remitting Multiple Sclerosis

Aksoy, Dürdane; Ateş, Ömer; Kurt, Semiha; Çevik, Betül; Sümbül, Orhan

doi:10.1136/jim-2016-000111

Cited by 9 publications

(9 citation statements)

References 39 publications

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“…Prion proteins have been implicated in myelin diseases, as proteolysis of prion proteins is beneficial for myelin sheath maintenance . Polymorphisms of metalloproteinase inhibitor 2 have been mentioned in CSF of relapsing remitting …”

Section: Discussionmentioning

confidence: 99%

Decreased Neuro‐Axonal Proteins in CSF at First Attack of Suspected Multiple Sclerosis

Stoop

Runia

Stingl

et al. 2017

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The pathology of multiple sclerosis is located in the central nervous system, therefore cerebrospinal fluid (CSF) is an attractive biofluid for biomarker research for proteins related to the early stages of this disease. In this study, the CSF proteome of patients with a clinically isolated syndrome of demyelination (CIS, a first attack of multiple sclerosis) is compared to the CSF proteome of control patients to identify differentially abundant proteins. CSF samples of 47 CIS patients and 45 control subjects are enzymatically digested and subsequently measured by LC-MS/MS (LTQ-Orbitrap). Following mass spectrometry differential abundances of the identified proteins between groups are investigated. A total of 3159 peptides are identified, relating to 485 proteins. One protein is significantly more abundant in CSF of CIS patients than in controls: Ig kappa chain C region. In contrast, 35 proteins are significantly lower in CIS patients than controls, most of them with functions in nervous system development and function, such as amyloid-like protein 1 (validated by ELISA in an independent sample set (p < 0.01)), contactin 1, contactin 2 and neuronal cell adhesion molecule. A remarkably lower abundance of neuro-axonal proteins is observed in patients with a first demyelinating event compared to controls.

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Section: Discussionmentioning

confidence: 99%

Decreased Neuro‐Axonal Proteins in CSF at First Attack of Suspected Multiple Sclerosis

Stoop

Runia

Stingl

et al. 2017

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“…TIMP‐2, the main endogenous inhibitor of MMP‐2, is responsible for regulating the functions of MMPs . The MMP‐2/TIMP‐2 expression ratio is an important factor in certain nervous and vascular disorders . In our study, the TIMP‐2 (rs2277698) gene polymorphism was shown to be weakly associated with DAVF patients subgrouped by CVR grading ( P = 0.026; OR 3.0 [95% CI 1.1–8.2]).…”

Section: Discussionmentioning

confidence: 53%

Polymorphism in dural arteriovenous fistula: matrix metalloproteinase‐2‐1306 C/T as a potential risk factor for sinus thrombosis

Tsuei

Chou

Chen

et al. 2018

Journal of Thrombosis and Haemostasis

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Background Dural arteriovenous fistula (DAVF) is a rare but important cerebrovascular disorder in adults. Little is known about the molecular genetic pathogenesis underlying DAVF development. Objectives To investigate the associations of gene polymorphisms and DAVF. Materials and Methods By the use of real-time PCR genotyping, seven single-nucleotide polymorphisms (SNPs) of angiogenesis-related genes were analyzed in 72 DAVF patients. Pertinent clinical and imaging data were subgrouped on the basis of location (cavernous sinus versus lateral sinus), lesions (single versus multiple), cerebral venous reflux (CVR) grading (Borden I versus Borden II/III), and sinus thrombosis (with versus without). Results We found that individuals carrying the polymorphic allele of matrix metalloproteinase (MMP)-2-1306 C/T (rs243865) had a significantly increased risk of sinus thrombosis in DAVF (odds ratio 6.2; 95% confidence interval 1.7-22.9). There was a weak difference in associations of tissue inhibitor of metalloproteinase (TIMP)-2 (rs2277698) gene polymorphism and DAVF patients subgrouped by CVR grading. Conclusions These preliminary results indicate that MMP-2-1306 C/T, but not MMP-9, TIMP-1, TIMP-2, and vascular endothelial growth factor A SNP variants, is a risk factor for the development of sinus thrombosis in DAVF patients.

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“…MMP-2 has been detected in microglial nodules and microglial-like cells, where it contributes to inflammation, and is implicated in further break down of myelin basic protein (MBP) and oligodendrocyte death [ 43 ], and destabilizes the BBB [ 44 , 45 ]. Aksoy et al analyzed the MMP-2 (-1306) gene polymorphism in patients with relapsing remitting MS, and found statistically significant differences in the frequency of CT and TT genotypes and T allele in comparing patients with relapsing remitting MS to control subjects [ 46 ]. Meanwhile, in our study, differences in the genotype and allele distribution did not show any statistical significance between ON with MS and control groups.…”

Section: Discussionmentioning

confidence: 99%

Association of MMP-2 (–1306 C/T) Gene Polymorphism with Predisposition to Optic Neuritis and Optic Neuritis Together with Multiple Sclerosis

et al. 2018

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Background and objective: Optic neuritis (ON) is characterized by painful, usually monocular vision loss with decreased visual acuity and defects of the visual field and color vision. The etiology and pathophysiology of ON is not completely clear. It is thought that a matrix metalloproteinase 2 (MMP-2) gene plays an essential role in this autoimmune inflammatory disease. The aim of this study was to determine the relationship between the MMP-2 (-1306 C/T) rs243865 gene polymorphism and ON, and that of ON with multiple sclerosis. Materials and methods: Patients with ON/ON and multiple sclerosis and a control group of healthy individuals were enrolled in this study. The genotyping test of the MMP-2 (-1306 C/T) was carried out using a real-time polymerase chain reaction (PCR) method. Results: Analysis revealed that T allele at the MMP-2 (-1306 C/T) was less frequent in the ON group compared to the control group (14.5% vs. 23.3%, p = 0.031), and was associated with decreased likelihood of ON development (OR = 0.566; 95% CI: 0.333-0.962; p = 0.036). No significant associations were revealed while comparing the subgroups of ON patients with and without multiple sclerosis. Conclusion: The MMP-2 (-1306 C/T) gene polymorphism was found to be associated with ON development.

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Analysis of Mmp2-1306C/T and Timp2G-418C Polymorphisms with Relapsing Remitting Multiple Sclerosis

Abstract: In the RRMS group, the genotype and allele frequencies of MMP2-1306C/T polymorphism showed significant differences from the controls. These results indicate that MMP2 might play a role in the pathogenesis of MS even during the inflammation stage.

Cited by 9 publications

References 39 publications

Decreased Neuro‐Axonal Proteins in CSF at First Attack of Suspected Multiple Sclerosis

Decreased Neuro‐Axonal Proteins in CSF at First Attack of Suspected Multiple Sclerosis

Polymorphism in dural arteriovenous fistula: matrix metalloproteinase‐2‐1306 C/T as a potential risk factor for sinus thrombosis

Association of MMP-2 (–1306 C/T) Gene Polymorphism with Predisposition to Optic Neuritis and Optic Neuritis Together with Multiple Sclerosis

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