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炎症性肠病的遗传学与表观遗传学

Genetics and epigenetics of IBD.

作者信息

Annese Vito

机构信息

Head of Gastroenterology and Medical Director, Valiant Clinic, Dubai, United Arab Emirates; CBP American Hospital, Dubai, United Arab Emirates; Aggregate Professor United Arabian Emirates University, College of Medicine & Health Science, Al Ain, United Arab Emirates.

出版信息

Pharmacol Res. 2020 Sep;159:104892. doi: 10.1016/j.phrs.2020.104892. Epub 2020 May 25.

DOI:10.1016/j.phrs.2020.104892
PMID:32464322
Abstract

Inflammatory bowel diseases (IBD) are chronic intermittent inflammatory disorders of the gastrointestinal tract of unknown etiology but a clear genetic predisposition. Prompted by the first investigations on IBD families and twins, the genetic and epigenetic studies have produced an unprecedented amount of information in comparison with other immune-mediated or complex diseases. New inflammatory pathways and possible mechanisms of action have been disclosed, potentially leading to new-targeted therapy. However, the identification of genetic markers due to the great disease heterogeneity and the overwhelming contribution of environmental risk factors has not modified yet the disease management. The possibility for the future of a better prediction of disease course, response to therapy and therapy-related adverse events may allow a more efficient and personalized strategy. This review will focus on more recent discoveries that may potentially be of relevance in daily clinical practice.

摘要

炎症性肠病(IBD)是病因不明但有明确遗传易感性的胃肠道慢性间歇性炎症性疾病。受对IBD家族和双胞胎的首次研究的推动,与其他免疫介导性疾病或复杂疾病相比,遗传和表观遗传学研究已产生了前所未有的信息量。新的炎症途径和可能的作用机制已被揭示,这可能会带来新的靶向治疗方法。然而,由于疾病异质性大以及环境风险因素的巨大影响,遗传标志物的识别尚未改变疾病的管理方式。未来更好地预测疾病进程、对治疗的反应以及治疗相关不良事件的可能性,可能会带来更有效和个性化的策略。本综述将聚焦于可能在日常临床实践中具有潜在相关性的最新发现。

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