Russell Richard K, Nimmo Elaine R, Satsangi Jack
University of Edinburgh Department of Medical Sciences, School of Clinical and Molecular Medicine, Western General Hospital, Edinburgh EH4 2XU, UK.
Curr Opin Genet Dev. 2004 Jun;14(3):264-70. doi: 10.1016/j.gde.2004.04.004.
Progress in the genetics of complex diseases has been slow over the past two decades compared to many simple Mendelian traits. However, rapid advances are now being made in inflammatory bowel disease genetics, leading already to identification of the first gene linked to Crohn's disease susceptibility: NOD2/CARD15. Since its discovery three years ago, there has been replication of the association of NOD2/CARD15 mutations with Crohn's disease in many populations, together with identification of phenotypic correlations. Functional studies promise to increase understanding of the primary pathophysiology involved in Crohn's disease and these discoveries may yet change clinical practice.
与许多简单的孟德尔性状相比,复杂疾病遗传学在过去二十年里进展缓慢。然而,炎症性肠病遗传学目前正在迅速发展,已经导致了首个与克罗恩病易感性相关基因的鉴定:NOD2/CARD15。自三年前发现该基因以来,NOD2/CARD15突变与克罗恩病的关联在许多人群中得到了重复验证,同时还确定了表型相关性。功能研究有望增进对克罗恩病主要病理生理学的理解,这些发现可能会改变临床实践。