Molecular genetic studies in chronic diff use liver diseases

Кривошеев, А. Б.; Максимов, В. Н.; Бойко, К. Ю.; Левыкина, Е. Е.; Кондратова, М. А.; Tov, Naveh

doi:10.31146/1682-8658-ecg-182-10-96-100

Cited by 3 publications

(1 citation statement)

References 23 publications

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“…В последние годы изучение генетического полиморфизма и ассоциаций определенных аллелей и генотипов при хронических диффузных заболеваниях печени получает все большее распространение и позволяет обнаружить некоторые закономерности, уточняющие характер патологического процесса, что предоставляет перспективные возможности в понимании патогенетического механизма болезни, разработать новые подходы к их диагностике, лечению и профилактике [26].…”

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The importance of vascular endothelial growth factor and polymorphism of the VEGF a gene (g634c) in the development of steatosis, fibrosis and cirrhosis of the liver patients in the city of Perm

Булатова

Shevlyukova

Щекотова

et al. 2023

jour

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Introduction. Chronic liver diseases are a significant medical problem all over the world. To date, there is a need to develop a set of laboratory tests, including genetic ones, to determine the risk of development and progression of steatosis, fibrosis and cirrhosis of the liver of various etiologies. Aim: To investigate the serum concentration of vasculoendothelial growth factor (VEGF) and the frequency of occurrence of VEGFA gene polymorphism genotypes in the region -634G/C (rs2010963) in patients with steatosis, fibrosis and cirrhosis of the liver in the Perm Region. Materials and methods: 258 people were examined, including 52 patients with non-alcoholic liver steatosis, 95 patients with chronic hepatitis C and liver fibrosis, 46 people with cirrhosis of the liver of viral (HCV) and alcoholic etiology and 65 practically healthy individuals. The serum concentration of VEGF was determined by enzyme immunoassay. Polymorphisms of the VEGFA gene in region -634G/C were analyzed by polymerase chain reaction. Result: The development of steatosis, fibrosis and cirrhosis of the liver is accompanied by endothelial damage with activation of neoangiogenesis due to hyperproduction of VEGF (p=0.001, p=0.0001 and p=0.001, respectively) in the blood serum. Elevated serum VEGF values in patients confirmed the presence of endothelial dysfunction in liver pathology. The study of the single nucleotide polymorphism of the VEGFA gene (G634C) showed a higher incidence of recessive allele C in patients with steatosis and cirrhosis in 54.81% (p=0.01) and 48.9% (p=0.04) of cases than in the control group -37.69%, which suggested the presence of an association of the carrier of allele C of this polymorphism in the form of genotypes CC or GC with a risk of developing steatosis and cirrhosis of the liver. Conclusion. Determination of the genetic marker VEGFA in the region -634G/C allows us to assess the increased risk of developing chronic liver diseases when exposed to various etiological factors.

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Section: Discussionunclassified

The importance of vascular endothelial growth factor and polymorphism of the VEGF a gene (g634c) in the development of steatosis, fibrosis and cirrhosis of the liver patients in the city of Perm

Булатова

Shevlyukova

Щекотова

et al. 2023

jour

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Chronic hepatitis B in children carried out of the hemochromatosis gene HFE

Inoyatova

Kadyrkhodzhayeva

Иногамова

et al. 2021

jour

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Purpose: to establish the frequency and clinical significance of mutant variations of the HFE gene polymorphism in chronic hepatitis B (CHB) in children with iron overload syndrome (IOS).Materials and methods: 60 children with chronic hepatitis B with iron overload syndrome (IOS) were examined. When distributing children into groups, we took into account the criteria we developed for assessing the degree of life expectancy in children with CHB: CST>0.5 – mild degree of life expectancy (43,3% of children), CST˃0.5 – mild degree of life expectancy (43,3% of children), CST˂0,5 – moderate severity of life expectancy (31,7% of children) and CST˂0,2 – severe degree of SPL (25,0%). Virological verification of HBV was performed by ELISA and PCR. Using PCR Real Time and molecular genetic analysis, HFE gene C282Y, H63D, S65C mutations were detected from amplified DNA using the PRONTO Hemochromatosis reagent kit (Israel). The transferrin saturation coefficient (CST) was calculated using the formula CST = sTfR / log10.Ft. Results:Results: The study of the hemochromatosis gene HFE showed that the overwhelming majority (84,0%) of children with CHB with IOS were carriers of heterozygous, phenotypically different, mutant types. And only 16,0% of sick children were homozites of the wild (normal) HFE gene. Analysis of the phenotypic polymorphism of the hemochromatosis gene HFE revealed the presence of three point heterozygous mutations: H63D, S65C and combined variations in H63D / S65C, the latter of which is associated with severe forms of CHB and severe IOS.Conclusion. Children with CHB with IOS are characterized by a high incidence of heterozygous mutations in the HFE gene, the phenotypic manifestations of which were S65C, H63D, H63D / S65C. The comparability of the heterozygous combined mutation H63D / S65C with severe forms of CHB and a severe degree of IOS gives grounds to consider this phenotype of the HFE gene as a factor in the progression of the disease.

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Case of multiple systemic (extrahepatic) manifestations of chronic HCV infection (analysis of the literature and own observations). Case report

Кривошеев

Khvan

Morozov

et al. 2022

Terapevticheskii arkhiv

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The article presents a description of a patient with chronic HCV infection and multiple extrahepatic manifestations, which manifested in dynamics and were recorded with a different sequence during 15 years of follow-up. In the patient we observed, the most frequently recorded extrahepatic manifestations were verified: porphyria cutanea tarda, mixed cryoglobulenemia, and utoimmune thyroiditis. Chronic HCV infection is often diagnosed in the presence of psoriasis was assessed as a paraneoplastic disease.

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Molecular genetic studies in chronic diff use liver diseases

Cited by 3 publications

References 23 publications

The importance of vascular endothelial growth factor and polymorphism of the VEGF a gene (g634c) in the development of steatosis, fibrosis and cirrhosis of the liver patients in the city of Perm

The importance of vascular endothelial growth factor and polymorphism of the VEGF a gene (g634c) in the development of steatosis, fibrosis and cirrhosis of the liver patients in the city of Perm

Chronic hepatitis B in children carried out of the hemochromatosis gene HFE

Case of multiple systemic (extrahepatic) manifestations of chronic HCV infection (analysis of the literature and own observations). Case report

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