Actis Giovanni C, Pellicano Rinaldo, Tarallo Sonia, Rosina Floriano
Department of Gastro-Hepatology, Ospedale Gradenigo, Torino, Italy.
Inflamm Allergy Drug Targets. 2011 Dec;10(6):447-54. doi: 10.2174/187152811798104926.
Traditional knowledge of clinical, laboratorial, and endoscopic orders regarding ulcerative colitis and Crohn's disease has begun to be implemented by the revolutionary data from genetic studies. Ever since many decades ago it has been clear that inflammatory bowel diseases are complex multifactorial disorders wherein gut-confined and/or environmental factors must synergize with genetic components to effect the full-blown disorder. The sequencing of the human genome and the generation of public resources of single nucleotide polymorphisms permitted the conduction of powerful population based genome-wide association studies. The latter have increased the number of the identified susceptibility loci to 99. In this review we touched on two pathways that make true susceptibility genes for inflammatory bowel diseases; gene loci that confer specific risk for ulcerative colitis and Crohn's disease were discussed in detail.
关于溃疡性结肠炎和克罗恩病的临床、实验室及内镜检查医嘱的传统知识，已开始被来自基因研究的革命性数据所应用。几十年前就已明确，炎症性肠病是复杂的多因素疾病，其中肠道局限因素和/或环境因素必须与基因成分协同作用，才能引发全面的疾病。人类基因组测序以及单核苷酸多态性公共资源的产生，使得开展强大的基于人群的全基因组关联研究成为可能。后者已将已确定的易感基因座数量增加到了99个。在本综述中，我们探讨了两条造就炎症性肠病真正易感基因的途径；详细讨论了赋予溃疡性结肠炎和克罗恩病特定风险的基因座。
