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一篇关于与胆道闭锁中肝纤维化相关基因的叙述性综述。

A narrative review of genes associated with liver fibrosis in biliary atresia.

作者信息

Liu Fangran, Tang Clara Sze Man, Chung Patrick Ho Yu

机构信息

Division of Paediatric Surgery, Department of Surgery, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.

出版信息

Transl Pediatr. 2024 Aug 31;13(8):1469-1478. doi: 10.21037/tp-24-94. Epub 2024 Aug 28.

Abstract

BACKGROUND AND OBJECTIVE

Biliary atresia (BA) is characterized by biliary inflammation and obstruction. In the later phase, liver fibrosis occurs. Although the etiology of BA is believed to be multi-factorial, genetic predisposition has been proposed to play a critical role in the pathogenesis. This review aimed to provide an updated summary of the genes that have been reported to be involved in BA-associated liver fibrosis.

METHODS

The review was conducted via evaluation of MalaCards (BA disease: MalaCards-research articles, drugs, genes, clinical trials) which is a universally applied website including various human disease database. The database of genes that are involved in liver fibrosis were studied.

KEY CONTENT AND FINDINGS

Thirty-one genes that are associated with BA according to the disease relevance score were reviewed after further evaluations. Eleven genes () that are specific and with a potential association with liver fibrosis were selected for detailed description. Increased expression of , , , , , , , and maybe associated with the development of liver fibrosis in BA patients, while the expression of and are more likely to suppress liver fibrosis.

CONCLUSIONS

Current scientific evidence using gene database has revealed a close association between genetic anomalies and the pathogenesis of liver fibrosis in BA. With a better understanding of these anomalies, therapy targeting these related genes may be a new therapeutic approach to alleviate liver fibrosis in BA.

摘要

背景与目的

胆道闭锁(BA)的特征为胆道炎症和梗阻。在疾病后期会发生肝纤维化。尽管BA的病因被认为是多因素的,但遗传易感性已被提出在其发病机制中起关键作用。本综述旨在提供一份关于已报道与BA相关肝纤维化有关的基因的最新总结。

方法

通过评估MalaCards(BA疾病:MalaCards - 研究文章、药物、基因、临床试验)进行本综述,MalaCards是一个广泛应用的包含各种人类疾病数据库的网站。研究了与肝纤维化相关的基因数据库。

关键内容与发现

根据疾病相关性评分,对31个与BA相关的基因进行进一步评估后进行了综述。选择了11个特定的且与肝纤维化可能相关的基因进行详细描述。[此处原文缺失具体基因名称]、[此处原文缺失具体基因名称]、[此处原文缺失具体基因名称]、[此处原文缺失具体基因名称]、[此处原文缺失具体基因名称]、[此处原文缺失具体基因名称]、[此处原文缺失具体基因名称]、[此处原文缺失具体基因名称]和[此处原文缺失具体基因名称]表达增加可能与BA患者肝纤维化的发生有关,而[此处原文缺失具体基因名称]和[此处原文缺失具体基因名称]的表达更可能抑制肝纤维化。

结论

目前使用基因数据库的科学证据表明基因异常与BA中肝纤维化的发病机制密切相关。更好地了解这些异常情况后,针对这些相关基因的治疗可能是减轻BA患者肝纤维化的一种新的治疗方法。

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