国际比较方案迷你系列:ICP 的遗传问题

IF 0.8 Q4 OBSTETRICS & GYNECOLOGY
Julia Zöllner, Catherine Williamson, Peter H. Dixon
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引用次数: 0

摘要

妊娠期肝内胆汁淤积症(ICP)是最常见的妊娠期肝脏疾病,全球发病率不一。遗传易感性加上激素和环境影响是导致 ICP 的病因。与血清胆汁酸升高有关的不良妊娠结局凸显了全面风险评估的重要性。ABCB4 和 ABCB11 基因变异在约 20% 的严重 ICP 病例中起着重要作用。其他一些基因,包括 ATP8B1、NR1H4、ABCC2、TJP2、SERPINA1、GCKR 和 HNF4A 也与 ICP 有关。此外,ABCB4 变异会增加药物诱发肝内胆汁淤积症、胆石症、胆囊癌和胆管癌、肝硬化和肝功能检测异常的风险。基因变异(包括罕见和常见基因变异)错综复杂地导致了ICP易感性。利用基因洞察力有望实现个性化管理和干预策略。还需要进一步研究,以阐明变异的特异性表型表达和治疗意义,从而推进 ICP 管理中的精准医疗。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
ICP miniseries: Genetic issues in ICP
Intrahepatic cholestasis of pregnancy (ICP) is the commonest gestational liver disorder with variable global incidence. Genetic susceptibility, combined with hormonal and environmental influences, contributes to ICP aetiology. Adverse pregnancy outcomes linked to elevated serum bile acids highlight the importance of comprehensive risk assessment. ABCB4 and ABCB11 gene variants play a significant role in about 20% of severe ICP cases. Several other genes including ATP8B1, NR1H4, ABCC2, TJP2, SERPINA1, GCKR and HNF4A have also been implicated with ICP. Additionally , ABCB4 variants elevate the risk of drug-induced intrahepatic cholestasis, gallstone disease, gallbladder and bile duct carcinoma, liver cirrhosis and abnormal liver function tests. Genetic variations, both rare and common, intricately contribute to ICP susceptibility. Leveraging genetic insights holds promise for personalised management and intervention strategies. Further research is needed to elucidate variant-specific phenotypic expressions and therapeutic implications, advancing precision medicine in ICP management.
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来源期刊
Obstetric Medicine
Obstetric Medicine OBSTETRICS & GYNECOLOGY-
CiteScore
1.90
自引率
0.00%
发文量
60
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