scholarly journals Association between gene polymorphism of the tissue inhibitor matrix metalloproteinase-2 (G303→A) and enterocutaneous fistula

2020 ◽  
Vol 24 (4 (96)) ◽  
pp. 7-11
Author(s):  
Ya. Voitiv ◽  
O. Usenko
Keyword(s):  
Statistical Analysis ◽  
Enterocutaneous Fistula ◽  
Information Criterion ◽  
Recessive Model ◽  
Matrix Metalloproteinase 2 ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Tissue Inhibitors ◽  
Tissue Inhibitors Of Metalloproteinase

Objective – to analyze the frequency of polymorphic variants of tissue inhibitors of metalloproteinase-2 (G303→A) gene in patients with enterocutaneous fistula. Material and methods. The object of the study comprises 19 patients with enterocutaneous fistula who were treated in the Shalimov National Institute of Surgery and Transplantology during 2016-2019. Laboratory, genetic, histological studies and statistical analysis were performed.Results. As a result of genetic and statistical analysis of the tissue inhibitors of metalloproteinase-2 (G303→A) gene single nucleotide polymorphisms, genotype variants have been identified that are associated with the risk of enterocutaneous fistula development. All models of inheritance were analyzed and the best model with the lowest Akaike information criterion, which turned out to be a recessive model, has been determined.Conclusions. Enterocutaneous fistula is 1,58 times more common in carriers of homozygous GG genotype of the tissue inhibitors of metalloproteinase-2 (G303→A) gene and twice less common in heterozygotes GA (21,1% vs. 40%, p=0,057). Carriers of minor homozygotes of AA genotype in the group with enterocutaneous fistula were not detected, while a similar genotype in the control group was found in 10% of cases.

scholarly journals POLYMORPHISM OF TISSUE INHIBITORS OF METALLOPROTEINASE-2 (G303 → A) GENE IN PATIENTS WITH INTESTINAL ANASTOMOTIC LEAK IN UKRAINIAN POPULATION

2021 ◽  
Vol 20 (1) ◽  
Author(s):  
Y.Y. Voitiv
Keyword(s):  
Statistical Analysis ◽  
Anastomotic Leak ◽  
Information Criterion ◽  
Recessive Model ◽  
Control Group ◽  
Genotype Distribution ◽  
Tissue Inhibitors ◽  
Tissue Inhibitors Of Metalloproteinase ◽  
Polymorphic Variants ◽  
Connective Tissue Pathology

Purpose - to analyze the frequency of polymorphic variants of tissue inhibitors ofmetalloproteinase-2 (G303 → A) gene in patients with intestinal anastomotic leak.Material and methods. The object of the study comprises 61 patients with anastomotic leakand connective tissue pathology, who were treated in the department of thoracoabdominalsurgery of Shalimov National Institute of Surgery and Transplantology during 2017-2020. Laboratory, genetic, histological studies and statistical analysis were performed.Results. As a result of genetic and statistical analysis of the tissue inhibitors ofmetalloproteinase-2 (G303 → A) gene polymorphisms, genotype variants have beenidentified that are associated with the risk of anastomotic leak in the hollow digestiveorgans. Significant differences in the distribution of genotypes in the studied groupswere revealed. Analysis of the multiplicative model of inheritance of tissue inhibitors ofmetalloproteinase-2 (G303 → A) gene showed compliance of genotype distribution withHardy-Weinberg's law. All models of inheritance were analyzed and the best model withthe lowest Akaike Information Criterion, which turned out to be a recessive model, hasbeen determined.Conclusions. It is statistically significant that in the group of patients with intestinalanastomotic leak the GG variant of the TIMP-2 gene was detected in 1,6 times moreoften. Carriers of minor homozygotes of AA genotype in the group with suture failurewere not detected, while a similar genotype in the control group was found in 10%(p <0,05).

scholarly journals Genetic and morphological aspects of the enterocutaneous fistula development

2020 ◽  
Vol 87 (7-8) ◽  
pp. 38-42
Author(s):  
Yu. Usenko ◽  
Ya. Yu. Voitiv
Keyword(s):  
Smooth Muscle ◽  
Monoclonal Antibodies ◽  
Statistical Analysis ◽  
Connective Tissue ◽  
Enterocutaneous Fistula ◽  
Collagen Iv ◽  
Matrix Metalloproteinase 2 ◽  
Immunohistochemical Examination ◽  
Tissue Inhibitors ◽  
Tissue Inhibitors Of Metalloproteinase

Objective. To analyze the frequency of polymorphic variants of matrix metalloproteinase-2 (C-1306 → T) and tissue inhibitors of metalloproteinase-2 (G303 → A) genes in patients with enterocutaneous fistulas and to identify the connection with morphological changes of connective tissue. Materials and methods. The object of the study comprises 24 patients with enterocutaneous fistula who were treated in the Shalimov National Institute of Surgery and Transplantology during 2016-2020. Laboratory, genetic, histological studies and statistical analysis were performed. Results. As a result of genetic and statistical analysis of the matrix metalloproteinase-2 (C-1306→T) and tissue inhibitors of metalloproteinase-2 (G303→A) gene single nucleotide polymorphisms, genotype variants have been identified that are associated with the risk of enterocutaneous fistula development. Immunohistochemical examination of tissues with monoclonal antibodies to α-smooth muscle actin (α-SMA) revealed uneven, focal expression in smooth muscle differentiation cells and fibroblasts. Examination with monoclonal antibodies to Collagen IV there is a moderate positive expression in the basement membrane of blood vessels, in smooth muscle cells of the muscular layer of the vascular wall, in areas of connective tissue. Conclusion. Enterocutaneous fistula is 1,5 times more common in carriers of homozygous GG genotype of the tissue inhibitors of metalloproteinase-2 (G303→A) gene and twice less common in heterozygotes GA (25% vs. 40%, p=0,057). Carriers of minor homozygotes of AA genotype in the group with enterocutaneous fistula were not detected, while a similar genotype in the control group was found in 10% of cases. Immunohistochemical examination of small and large intestine tissues with monoclonal antibodies to Collagen IV and α-SMA revealed signs of pathological connective tissue remodeling.

Single Nucleotide Polymorphisms of Tissue Inhibitors of Metalloproteinase Genes in Familial Moyamoya Disease

Neurosurgery ◽  
2008 ◽  
Vol 62 (6) ◽  
pp. E1384 ◽  
Author(s):  
Vincenzo Andreone ◽  
Simona Scala ◽  
Celeste Tucci ◽  
Daniele Di Napoli ◽  
Italo Linfante ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Moyamoya Disease ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Tissue Inhibitors ◽  
Tissue Inhibitors Of Metalloproteinase

scholarly journals Association between CCN1 gene polymorphism and acute coronary syndrome in Chinese Han and Uygur populations

Hereditas ◽  
2021 ◽  
Vol 158 (1) ◽  
Author(s):  
Yan-Hong Li ◽  
Jun-Yi Luo ◽  
Bin-Bin Fang ◽  
Guo-Li Du ◽  
Ting Tian ◽  
...  
Keyword(s):  
Recessive Model ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Coronary Syndrome ◽  
Significant Difference ◽  
And Control ◽  
Control Study ◽  
Uygur Population

Abstract Background CCN1 plays a crucial role in the modulation of cardiovascular diseases. However, whether CCN1 genetic variants are involved in the susceptibility of ACS remains unknown. Hence, the present study investigates the association between CCN1 polymorphisms and ACS among Han and Uygur populations in Xinjiang, China. Results In this case-control study, 1234 Han (547 ACS patients and 687 controls) and 932 Uygur (471 ACS patients and 461 controls) were genotyped using SNPscanTM for three single-nucleotide polymorphisms (SNPs, rs6576776, rs954353, and rs3753794) of the human CCN1 gene. In the Uygur population, we found that the detected frequencies of the C allele (25.3% vs. 18.3%, P<0.001) and CC genotype (6.4% vs. 3.0%, P=0.001) of rs6576776 were significantly higher in the ACS patients than in the control participants. Differences in rs6576776 regarding the dominant model (CC+CG vs. GG, 44.2% vs. 55.8%, P=0.001) and the recessive model (CC vs. CG+GG, 6.4% vs. 93.6%, P=0.016) were observed between the two groups. The frequencies of the GGC and AGC haplotypes in those with ACS were significantly higher than those in the control group (all P<0.05) in the Uygur population. After adjusting for hypertension, diabetes, lipids and smoking, all of which indicate that the rs6576776 C allele is associated with higher risk of ACS (odds ratio (OR)=1.798, 95% confidence interval (CI), 1.218-2.656, P=0.003). In Han population, neither the distribution of genotypes and alleles of the CCN1 gene three SNPs nor the distribution of haplotypes constructed with the three SNPs exhibited a significant difference between the ACS patients and control participants. Conclusions Our study document that the CCN1 gene rs6576776 C allele is associated with higher susceptibility of ACS and that the frequencies of GGC and AGC haplotypes are higher among the Uygur ACS patients.

ANALYSIS OF POLYMORPHISM OF MATRIX METALLOPROTEINASE-2 (C-1306 → T) AND TISSUE INHIBITORS OF METALLOPROTEINASE-2 (G1303→ A) GENES IN PATIENTS WITH EVENTRATION

2020 ◽  
pp. 9-14
Author(s):  
Ya. Voitiv ◽  
O. Usenko ◽  
V. Dosenko
Keyword(s):  
Matrix Metalloproteinase ◽  
Information Criterion ◽  
Recessive Model ◽  
Matrix Metalloproteinase 2 ◽  
Pathology Laboratory ◽  
Tissue Inhibitors Of Metalloproteinase ◽  
Statistical Studies ◽  
Polymorphic Variants ◽  
Tissue Matrix ◽  
Connective Tissue Pathology

Summary. The aim. To analyze the frequency of polymorphic variants of matrix metalloproteinase-2 (C-1306→T) (MMP-2) and tissue matrix metalloproteinase-2 (G303→A) (TIMP-2) genes in patients with eventration. Materials and methods. The study included 11 patients with eventration and 44 patients with connective tissue pathology. Laboratory, genetic and statistical studies were performed. Results and discussion. All models of inheritance are analyzed and the best model with the lowest information criterion Aikaike, which turned out to be a recessive model, is determined. Conclusions. As a result of genetic and statistical analysis of polymorphism of MMP-2 (C-1306→T) and TIMP-2 (G303→A) genes, it was found that polymorphic variants of these genes are not reliably associated with the development of eventration.

Matrix Metalloproteinase-2 Gene Polymorphisms Decrease Chances of Muscle TMD Development in Brazilian Population

2021 ◽  
Vol 7 (3) ◽  
Author(s):  
Cordeiro PCF ◽  
◽  
Quinelato V ◽  
Calasans-Maia JA ◽  
Bonato LL ◽  
...  
Keyword(s):  
Temporomandibular Disorders ◽  
Proteolytic Enzymes ◽  
Functional Limitations ◽  
Matrix Metalloproteinase 2 ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Muscle Adaptation ◽  
Single Nucleotide ◽  
Muscular Disorders ◽  
The Matrix

Introduction: Muscular Temporomandibular disorders or masticatory disorders are characterized by orofacial pain and functional limitations associated with oral dysfunctions, emotional changes and/or genetic factors. Matrix Metalloproteinases (MMPs) are proteolytic enzymes that constitute the extracellular matrix and play an important role in the skeletal muscle adaptation. Objectives: To evaluate the association between polymorphisms in the Matrix Metaloprotease-2 (MMP2) gene and the presence of muscular disorders. Methods: RDC/TMD questionnaire was applied for clinical diagnosis of Temporomandibular Disorders (TMD) in the study sample and three diagnosis groups were formed: control group (n=154), muscular TMD (n=122) and joint TMD (n=49). Genomic DNA was obtained from saliva samples and six single nucleotide polymorphisms in the MMP2 gene were selected. Results: A tendency of association between the presence of the CT genotype (rs243865) and the absence of muscular TMD was observed when compared to the control group (p=0.05). There was a significant prevalence of the polymorphic CT+TT (rs243865) genotypes in the control group (p=0.04) compared to the muscular TMD group (p=0.05). Confirming these results, TCCACC MMP2 haplotype showed higher association (p=0.01) with protection against muscular TMD. Conclusion: Polymorphism in the MMP2 gene (rs243865) is related to protection against muscular TMD.

Association of the CD14 C159T and the Toll-like receptor 4 Asp299Gly polymorphisms with various phenotypes of asthma in adults from Crimea

2020 ◽  
Vol 41 (2) ◽  
pp. 134-140
Author(s):  
Yuriy Bisyuk ◽  
Andrew Dubovyi ◽  
Ilona DuBuske ◽  
Viktor Litus ◽  
Lawrence M. DuBuske
Keyword(s):  
Late Onset ◽  
Adult Population ◽  
Additive Models ◽  
Atopic Asthma ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Toll Like Receptor ◽  
Toll Like Receptor 4 ◽  
Single Nucleotide ◽  
Gender And Age

Background: This study assessed gene polymorphisms of the CD14 receptor (C-159T) and Toll-like receptor 4 (Asp299Gly) in a patient population in Crimea, Ukraine, stratified by clinical (early versus late onset; frequent versus occasional relapses; fixed versus reversible obstruction) and immunologic (atopic versus nonatopic; eosinophilic; neutrophilic or paucigranulocytic inflammation) subtype. Methods: Two polymorphisms, CD14 C-159T and TLR4 Asp299Gly, were assessed in 331 patients with asthma. The control group included 285 volunteers who were nonatopic. The single nucleotide polymorphisms were studied by using polymerase chain reaction with electrophoretic detection. Results: There were increased odds of asthma development in patients with the Asp299Gly TLR4 mutation compared with the general population underdominant odds ratio (OR) 1.52 [95% confidence interval (CI), 1.00‐2.32] and overdominant (OR 1.55 [95% CI, 1.01‐2.38]) models after adjustment for gender and age. In addition, mutations in this gene decreased the odds of nonatopic asthma in underdominant (OR 0.26 [95% CI, 0.07‐0.93]; p = 0.027), overdominant (OR 0.27 [95% CI, 0.07‐0.96]; p = 0.033), and log-additive models (OR 0.26 [95% CI, 0.07‐0.93]; p = 0.026) compared with the atopic subgroup after adjustment for gender, age, number of exacerbations, and type of airway inflammation. Allele frequencies for CD14 and TLR4 polymorphisms did not show statistical differences between the patients with asthma and the control subjects. Conclusion: CD14 C-159T polymorphisms were not associated with asthma in the adult population in Crimea. TLR4 Asp299Gly polymorphisms were associated with asthma and with decreased odds of nonatopic asthma compared with atopic asthma in the adult population in Crimea.

scholarly journals Association between CTSS gene polymorphism and the risk of acute atherosclerotic cerebral infarction in Chinese population: a case–control study

2018 ◽  
Vol 38 (6) ◽  
Author(s):  
Lian Luo ◽  
Mingli Zhu ◽  
Jiajun Zhou
Keyword(s):  
Cerebral Infarction ◽  
Case Control Study ◽  
Case Control ◽  
Cathepsin S ◽  
Control Group ◽  
Study Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Independent Risk Factors ◽  
Control Study

Objective: To investigate the association between the gene polymorphisms of rs774320676, rs768437857, rs928508030, and rs2275235 loci of Cathepsin S (CTSS) and risk of acute atherosclerotic cerebral infarction. Methods: A total of 315 patients with acute atherosclerotic cerebral infarction (study group) and 220 healthy subjects (control group) were enrolled in the present study. The genetic polymorphism of rs774320676, rs768437857, rs928508030, and rs2275235 loci of CTSS of subjects was analyzed by PCR-Sanger sequencing. Results: The proportion of carriers with mutant T allele at rs774320676 locus and mutant G allele at rs928508030 locus of CTSS in study group was significantly higher than the proportion in control group (P=0.000, adjusted odds ratio (OR) = 1.332, 95% confidence interval (CI) = 1.200–1.460; P<0.001, adjusted OR = 1.185, 95% CI = 1.055–1.314; P=0.002). The T allele at rs774320676 locus and the G allele at rs928508030 locus of CTSS were independent risk factors for acute atherosclerotic cerebral infarction (OR = 2.534, 95% CI = 1.020–4.652, P=0.006; OR = 2.016, 95% CI = 1.031–4.385, P=0.031). Conclusion: The single nucleotide polymorphisms (SNPs) of rs774320676 and rs928508030 of CTSS gene were related with risk for acute atherosclerotic cerebral infarction. The T allele at rs774320676 locus and G allele at rs928508030 locus of CTSS were genetic susceptibility genes of acute atherosclerotic cerebral infarction.

scholarly journals Genotyping of Essential Hypertension Single-Nucleotide Polymorphisms by a Homogeneous PCR Method with Universal Energy Transfer Primers

2002 ◽  
Vol 48 (12) ◽  
pp. 2131-2140 ◽  
Author(s):  
Chikh Bengra ◽  
Theodore E Mifflin ◽  
Yuri Khripin ◽  
Paolo Manunta ◽  
Scott M Williams ◽  
...  
Keyword(s):  
Essential Hypertension ◽  
Single Nucleotide Polymorphisms ◽  
Restriction Endonucleases ◽  
Control Group ◽  
Italian Population ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Hypertensive Patients ◽  
Unique Restriction ◽  
Set Up

Abstract Background: Human hypertension is a complex, multifactorial disease with a heritability of more than 30–50%. A genetic screening test based on analysis of multiple single-nucleotide polymorphisms (SNPs) to assess the likelihood of developing hypertension would be helpful for disease management. Methods: Tailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G protein-coupled receptor kinase type 4 (GRK4): R65L, A142V, and A486V; two in angiotensinogen: −6G→A and M235T; and one in aldosterone synthase: −344C→T] associated with essential hypertension. PCRs of SNP loci were coupled (via a common sequence of 21 nucleotide tails) to incorporate Universal Amplifluor™ primers labeled with fluorescein or sulforhodamine in a homogeneous format. Use of Amplifluors in SNP PCRs produced labeled amplicons, the fluorescence of which was quantified by a microplate reader and then analyzed via an Excel macro to provide genotypes for all six SNP loci. Unique restriction endonucleases were identified for five SNP loci that could independently confirm homogeneous PCR results when needed. Results: We developed six homogeneous PCR assays that were set up, performed, and fluorometrically analyzed in 96-well microplates. Allele frequencies were determined for six SNPs in 60 Italian hypertensive patients and a control group of 60 normotensive persons. A significant correlation (P = 0.034) between one SNP [GRK4 (A486V)] and the hypertensive patients was observed. Genotyping results for five of six SNPs were confirmed by digesting corresponding amplicons with locus-specific restriction endonucleases. Conclusions: We developed a simple and homogeneous fluorescent protocol that has been used to determine the SNP genotype for six loci in a population of hypertensive and normotensive persons. We also observed a significant association (P = 0.034) between one SNP (A486V) and an Italian population of mildly hypertensive patients.

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