Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Cairo Street, Beirut, Lebanon.
Mol Biol Rep. 2020 Apr;47(4):3053-3063. doi: 10.1007/s11033-020-05318-5. Epub 2020 Feb 21.
Inflammatory bowel disease (IBD) is a chronic relapsing inflammatory disease that can involve any part of the gastrointestinal tract. It includes two main disorders: Crohn's disease (CD) and Ulcerative colitis (UC). CD and UC often share a similar clinical presentation; however, they affect distinct parts of the GI Tract with a different gut wall inflammatory extent. Ultimately, IBD seems to emanate from an uncontrollably continuous inflammatory process arising against the intestinal microbiome in a genetically susceptible individual. It is a multifactorial disease stemming from the impact of both environmental and genetic components on the intestinal microbiome. Furthermore, IBD genetics has gained a lot of attention. Around 200 loci were identified as imparting an increased risk for IBD. Few of them were heavily investigated and determined as highly linked to IBD. These genes, as discussed below, include NOD2, ATG16L1, IRGM, LRRK2, PTPN2, IL23R, Il10, Il10RA, Il10RB, CDH1 and HNF4α among others. Consequently, the incorporation of a genetic panel covering these key genes would markedly enhance the diagnosis and evaluation of IBD.
炎症性肠病（IBD）是一种慢性复发性炎症性疾病，可累及胃肠道的任何部位。它包括两种主要疾病：克罗恩病（CD）和溃疡性结肠炎（UC）。CD 和 UC 通常具有相似的临床表现；然而，它们影响胃肠道的不同部位，肠道壁炎症程度也不同。最终，IBD 似乎是由对遗传易感个体肠道微生物组的不可控持续炎症过程引起的。它是一种多因素疾病，源于环境和遗传因素对肠道微生物组的共同作用。此外，IBD 遗传学受到了广泛关注。约有 200 个基因座被确定为增加 IBD 的风险。其中一些基因座受到了广泛的研究，并被确定与 IBD 高度相关。这些基因，如下面讨论的，包括 NOD2、ATG16L1、IRGM、LRRK2、PTPN2、IL23R、Il10、Il10RA、Il10RB、CDH1 和 HNF4α 等。因此，纳入涵盖这些关键基因的遗传面板将显著提高 IBD 的诊断和评估水平。
