{"title":"fxr信号变异性在儿童非酒精性脂肪性肝病的发展和病程中的作用","authors":"Yuriy Stepanov, Natalia Zavhorodnia, Inna Klenina, Olena Grabovska, Viktoria Yagmur","doi":"10.14712/18059694.2022.26","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>Genetic mechanisms among many other factors play a crucial role in the development and progression of nonalcoholic fatty liver disease (NAFLD). The farnesoid X-receptor (FXR) regulates the expression of target genes involved in metabolic and energy homeostasis, so it can be assumed that genetic variations within the NR1H4 gene, encoding FXR, can affect the development or progression of associated diseases, including NAFLD.</p><p><strong>The aim: </strong>To study the association of SNP rs11110390 NR1H4 gene with the probability of development and course of NAFLD in children.</p><p><strong>Materials and methods: </strong>76 children aged 9-17 years and overweight were examined. According to controlled attenuated parameter (CAP) measurement (Fibroscan®502touch) children were divided into 2 groups: group 1 consisted of 40 patients with NAFLD, group 2 was composed by 36 patients without hepatic steatosis. According to genetic testing children were divided into 3 subgroups - children with CC-, CT-, TT-genotype SNP rs11110390 NR1H4 gene.</p><p><strong>Results: </strong>The frequency of TT-genotype SNP rs11110390 NR1H4 gene detection in children with NAFLD was 17.5% versus 2.8% in the control group (p NR1H4 gene the liver stiffness (p NR1H4 (p NR1H4 is associated with an increased probability of NAFLD development in children. An increase in the steatosis degree and liver stiffness in combination with increased taurine-conjugated bile acids fractions in the hepatic and gallbladder's bile, shift in cytokine balance due to a decrease in IL-10 level in children with TT-genotype SNP rs11110390 NR1H4 were observed.</p>","PeriodicalId":35758,"journal":{"name":"Acta medica (Hradec Kralove)","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"The Role of FXR-Signaling Variability in the Development and Course of Non-Alcoholic Fatty Liver Disease in Children.\",\"authors\":\"Yuriy Stepanov, Natalia Zavhorodnia, Inna Klenina, Olena Grabovska, Viktoria Yagmur\",\"doi\":\"10.14712/18059694.2022.26\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>Genetic mechanisms among many other factors play a crucial role in the development and progression of nonalcoholic fatty liver disease (NAFLD). The farnesoid X-receptor (FXR) regulates the expression of target genes involved in metabolic and energy homeostasis, so it can be assumed that genetic variations within the NR1H4 gene, encoding FXR, can affect the development or progression of associated diseases, including NAFLD.</p><p><strong>The aim: </strong>To study the association of SNP rs11110390 NR1H4 gene with the probability of development and course of NAFLD in children.</p><p><strong>Materials and methods: </strong>76 children aged 9-17 years and overweight were examined. According to controlled attenuated parameter (CAP) measurement (Fibroscan®502touch) children were divided into 2 groups: group 1 consisted of 40 patients with NAFLD, group 2 was composed by 36 patients without hepatic steatosis. According to genetic testing children were divided into 3 subgroups - children with CC-, CT-, TT-genotype SNP rs11110390 NR1H4 gene.</p><p><strong>Results: </strong>The frequency of TT-genotype SNP rs11110390 NR1H4 gene detection in children with NAFLD was 17.5% versus 2.8% in the control group (p NR1H4 gene the liver stiffness (p NR1H4 (p NR1H4 is associated with an increased probability of NAFLD development in children. An increase in the steatosis degree and liver stiffness in combination with increased taurine-conjugated bile acids fractions in the hepatic and gallbladder's bile, shift in cytokine balance due to a decrease in IL-10 level in children with TT-genotype SNP rs11110390 NR1H4 were observed.</p>\",\"PeriodicalId\":35758,\"journal\":{\"name\":\"Acta medica (Hradec Kralove)\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Acta medica (Hradec Kralove)\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.14712/18059694.2022.26\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta medica (Hradec Kralove)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.14712/18059694.2022.26","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
The Role of FXR-Signaling Variability in the Development and Course of Non-Alcoholic Fatty Liver Disease in Children.
Introduction: Genetic mechanisms among many other factors play a crucial role in the development and progression of nonalcoholic fatty liver disease (NAFLD). The farnesoid X-receptor (FXR) regulates the expression of target genes involved in metabolic and energy homeostasis, so it can be assumed that genetic variations within the NR1H4 gene, encoding FXR, can affect the development or progression of associated diseases, including NAFLD.
The aim: To study the association of SNP rs11110390 NR1H4 gene with the probability of development and course of NAFLD in children.
Materials and methods: 76 children aged 9-17 years and overweight were examined. According to controlled attenuated parameter (CAP) measurement (Fibroscan®502touch) children were divided into 2 groups: group 1 consisted of 40 patients with NAFLD, group 2 was composed by 36 patients without hepatic steatosis. According to genetic testing children were divided into 3 subgroups - children with CC-, CT-, TT-genotype SNP rs11110390 NR1H4 gene.
Results: The frequency of TT-genotype SNP rs11110390 NR1H4 gene detection in children with NAFLD was 17.5% versus 2.8% in the control group (p NR1H4 gene the liver stiffness (p NR1H4 (p NR1H4 is associated with an increased probability of NAFLD development in children. An increase in the steatosis degree and liver stiffness in combination with increased taurine-conjugated bile acids fractions in the hepatic and gallbladder's bile, shift in cytokine balance due to a decrease in IL-10 level in children with TT-genotype SNP rs11110390 NR1H4 were observed.
期刊介绍：
Acta Medica (Hradec Králové) is a multidisciplinary medical journal published by the Faculty of Medicine in Hradec Králové - Karolinum Press, the publishing house of Charles University. The journal is peer-reviewed and published quarterly in both paper and electronic form. The language of Acta Medica is English. Offerings include review articles, original articles, brief communications, case reports, announcements and notices. The journal was founded in 1958 under the title "A Collection of Scientific Works of the Charles University Faculty of Medicine in Hradec Kralove."
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