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Genetics and Pathogenesis of Inflammatory Bowel Disease.
Annual Review of Pathology: Mechanisms of Disease ( IF 36.2 ) Pub Date : 2016-02-22 , DOI: 10.1146/annurev-pathol-012615-044152
Ta-Chiang Liu 1 , Thaddeus S Stappenbeck 1
Affiliation  

We are currently in an exciting time when our understanding of genetic underpinnings of inflammatory bowel disease (IBD) has undergone a revolution, based in large part on novel genotyping and sequencing technologies. With >160 susceptible loci identified for IBD, the goal is now to understand at a fundamental level the function of these susceptibility alleles. Determining the clinical relevance of how these susceptible genes shape the development of IBD is also a high priority. The main challenge is to understand how the environment and microbiome play a role in triggering disease in genetically susceptible individuals, as the interactions may be complex. To advance the field, novel in vitro and mouse models that are designed to interrogate complex genetics and functionally test hypotheses are needed. Ultimately, the goal of genetics studies will be to translate genetics to patients with IBD and improve their care.

中文翻译:

炎症性肠病的遗传学和发病机制。

我们目前正处于一个激动人心的时刻,我们对炎症性肠病 (IBD) 遗传基础的理解发生了一场革命,这在很大程度上基于新颖的基因分型和测序技术。已鉴定出超过 160 个 IBD 易感位点,现在的目标是从根本上了解这些易感等位基因的功能。确定这些易感基因如何影响 IBD 发展的临床相关性也是一个高度优先的事项。主要挑战是了解环境和微生物组如何在引发遗传易感个体的疾病中发挥作用,因为相互作用可能很复杂。为了推进该领域的发展,需要设计新颖的体外和小鼠模型来探究复杂的遗传学和功能测试假设。最终,遗传学研究的目标是将遗传学应用于 IBD 患者并改善他们的护理。
更新日期:2019-11-01
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