Annese V, Latiano A, Andriulli A
Department of Internal Medicine, Gastroenterology Unit, "Casa Sollievo della Sofferenza" Hospital-I.R.C.C.S., 71013 San Giovanni Rotondo (Fg), Italy.
Dig Liver Dis. 2003 Jun;35(6):442-9. doi: 10.1016/s1590-8658(03)00213-5.
Recent identification of the first susceptibility gene for Crohn's disease has led to increasing enthusiasm for the investigation and dissection of inflammatory bowel disease. In the future, identification of additional genes and careful correlation of the genetic background with clinical features of the disease will help to elucidate the causes and cure of inflammatory bowel disease. However, caution is still needed in the short term since our present knowledge has limited influence on clinical management. This review focuses on the genetic background of inflammatory bowel disease, the process of discovering the mutations of the NOD2/CARD15 gene in Crohn's disease patients, and the functional clues of the genetic variants of this gene in relation to clinical features.
最近首个克罗恩病易感性基因的鉴定引发了人们对炎症性肠病进行研究和剖析的高涨热情。未来，更多基因的鉴定以及基因背景与疾病临床特征的仔细关联，将有助于阐明炎症性肠病的病因及治疗方法。然而，短期内仍需谨慎，因为我们目前的认知对临床管理的影响有限。本综述聚焦于炎症性肠病的基因背景、在克罗恩病患者中发现NOD2/CARD15基因突变的过程，以及该基因的遗传变异与临床特征相关的功能线索。
