Achkar Jean-Paul, Duerr Richard
Center for Inflammatory Bowel Disease, Department of Gastroenterology & Hepatology, Cleveland Clinic, Cleveland, Ohio 44195, USA.
Curr Opin Gastroenterol. 2008 Jul;24(4):429-34. doi: 10.1097/MOG.0b013e3283009c92.
Genetic factors play an important role in the pathogenesis of inflammatory bowel disease. In this review, we will provide an update on the rapid advances in the discovery of inflammatory bowel disease, primarily Crohn's disease, associated genes.
Seven recently published Crohn's disease genome-wide association studies have confirmed prior findings related to the nucleotide-binding oligomerization domain 2 (NOD2) gene and the IBD5 locus. In addition, 10 novel loci have been identified and well replicated.
Several promising associations between Crohn's disease and gene variants have been identified and replicated, the two most widely replicated being variants in the IL23R and ATG16L1 genes. These findings highlight and further support the importance of the immune system and its interactions with the intestinal microflora in the pathogenesis of inflammatory bowel disease.
遗传因素在炎症性肠病的发病机制中起重要作用。在本综述中，我们将介绍炎症性肠病（主要是克罗恩病）相关基因发现方面的快速进展。
最近发表的7项克罗恩病全基因组关联研究证实了先前与核苷酸结合寡聚化结构域2（NOD2）基因和IBD5位点相关的发现。此外，还鉴定出10个新的位点并得到了充分验证。
已确定并验证了克罗恩病与基因变异之间的几个有前景的关联，其中研究最为广泛的两个是白细胞介素23受体（IL23R）基因和自噬相关16样蛋白1（ATG16L1）基因的变异。这些发现突出并进一步支持了免疫系统及其与肠道微生物群的相互作用在炎症性肠病发病机制中的重要性。
