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Report for SNP rs1799750

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 The Assesment of Matrix Metalloproteinase-1 Genotypes Polymorphism as a Risk Factor for Hepatocellular Carcinoma in Chronic Hepatitis C Patients With Liver Cirrhosis

Egypt is an endemic area of HCV.Cirrhosis and HCC are the most serious complications of chronic HCV infection.Some studies noted that the risk of HCC increased 17-fold among HCV-infected patients compared with anti-HCV negative controls. Many studies demonstrate that direct antiviral therapy seems to accelerate the development of HCC, soon after the end of treatment, in those patients at higher risk of HCC occurrence or recurrence; and preliminary reports seem to indicate that HCC developed after direct antiviral therapy has more aggressive features. These findings clearly indicate the need for aggressive and close monitoring of cirrhotic patients during and after antiviral treatment, to detect and treat HCC at their earliest occurrence. Genetic variation plays a key role in HCC susceptibility and development of the disease.Genotype distribution frequency data can be used to map single nucleotide polymorphism (SNP) diversity in a population and to examine the risk and development of specific diseases.Many reports indicate an association between SNPs in certain genes and the susceptibility and clinicopathological status of HCC. MMP-1 is an endogenous peptide enzyme that is most widely expressed in interstitial collagenase,which can degrade the extracellular matrix surrounding tumor cells. It is involved in many stages of tumorigenesis, in angiogenesis, and in suppression of tumor cell apoptosis . MMP‑1 − 1607 1G/2G (rs1799750) contains a guanine insertion/deletion polymorphism at position − 1607 and is a functional (SNP) that can upregulate MMP expression. The association between the MMP‑1 − 1607 1G/2G polymorphism and the emergence of several diseases including the risk for many cancers has been reported. There are results suggest that MMP-1 is overexpressed in a large proportion of patients with HCC which correlated with the disease progression and poor clinical outcome. Furthermore, MMP-1 high expression proved to be a risk factor for tumor recurrence and independent molecular marker of prognosis in HCC and may become a novel target in the strategies for the prediction of tumor progression and prognosis of this disease. Aim: Is to asses: The contribution of MMP‑1-1607 genotype polymorphism to the risk of HCC on top of HCV. The relationship between MMP‑1−1607 gene polymorphism with HCC in patients who received antiviral treatment to HCV.

NCT03722628 Hepatocellular Carcinoma Diagnostic Test: MMP1 genotypes polymorphism
MeSH: Carcinoma Carcinoma, Hepatocellular
HPO: Carcinoma Hepatocellular carcinoma

MMP‑1 − 1607 1G/2G (rs1799750) contains a guanine insertion/deletion polymorphism at position − 1607 and is a functional (SNP) that can upregulate MMP expression.

Primary Outcomes

Description: detection by polymerase chain reaction

Measure: The level of Matrix metalloprotinease-1 genotypes polymorphism in the study population

Time: 48 hours


HPO Nodes


Carcinoma
Genes 16
POLE MSH2 DKC1 SMARCA4 NLRP1 POLD1 CDKN1B MLH1 RSPO1 FGFR3 BCL10 APC STK11 PTEN APC KIT
Hepatocellular carcinoma
Genes 65
AHCY CTNNB1 CASP10 IGF2R JAG1 CASP8 HFE BMP2 HFE MLH1 PMS2 POU2AF1 HMBS FAH MSH6 SLC25A13 RASGRP1 EPCAM UROD AXIN1 TCF4 TP53 IL12A PRKCD SLC37A4 TGFBR2 SEMA4A JAK2 FAN1 FAS BMPR1A FAS KRAS FAH SPIB MSH2 HMBS MST1 MLH3 G6PC SPRTN SLC37A4 PIK3CA PDGFRL SERPINA1 TNFSF15 ATP7B IGF2 ABCB11 FASLG IL12RB1 SLC25A13 IRF5 RPS20 MET PIK3CA MMEL1 HFE H19 PMS1 F5 GPR35 APC TJP2 TNPO3