The Role of FXR-Signaling Variability in the Development and Course of Non-Alcoholic Fatty Liver Disease in Children.

Q3 Medicine

Acta medica (Hradec Kralove) Pub Date : 2022-01-01 DOI:10.14712/18059694.2022.26

Yuriy Stepanov, Natalia Zavhorodnia, Inna Klenina, Olena Grabovska, Viktoria Yagmur

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引用次数: 0

Abstract

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.

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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

遗传机制和许多其他因素在非酒精性脂肪性肝病(NAFLD)的发生和进展中起关键作用。farnesoid x受体(FXR)调节参与代谢和能量稳态的靶基因的表达，因此可以假设编码FXR的NR1H4基因内的遗传变异可以影响包括NAFLD在内的相关疾病的发生或进展。目的:探讨rs11110390 NR1H4基因SNP与儿童NAFLD发生概率及病程的关系。材料与方法:对76例9 ~ 17岁超重儿童进行调查。根据控制衰减参数(CAP)测量(Fibroscan®502touch)将患儿分为2组:1组40例NAFLD患者，2组36例无肝脂肪变性患者。根据基因检测将患儿分为CC-、CT-、tt -基因型rs11110390 NR1H4基因患儿3个亚组。结果:tt基因型SNP rs11110390 NR1H4基因在NAFLD儿童中检测的频率为17.5%，而对照组为2.8% (p NR1H4基因，肝脏硬度(p NR1H4) p NR1H4与儿童NAFLD发展的可能性增加相关)。在tt基因型SNP rs11110390 NR1H4的儿童中，观察到脂肪变性程度和肝脏僵硬程度的增加以及肝脏和胆囊胆汁中牛磺酸结合胆汁酸部分的增加，以及由于IL-10水平降低而导致的细胞因子平衡的改变。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Acta medica (Hradec Kralove) Medicine-Medicine (all)

CiteScore

1.10

自引率

0.00%

发文量

审稿时长

20 weeks

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."