Gastroenterology Department, University Hospitals Leuven, Leuven, Belgium.
Best Pract Res Clin Gastroenterol. 2011 Apr;25 Suppl 1:S8-14. doi: 10.1016/S1521-6918(11)70004-X.
The volume of research undertaken on the genetic susceptibility of inflammatory bowel diseases has been tremendous. International collaborative efforts which initiated in 1997 and have not stopped since, led to the identification at present of more than 100 IBD risk loci. Yet, only 25% of the genetic variance is explained. It is hypothesized that rare variants, other forms of genetic variation (copy number variation), as well as gene-gene and geneenvironment interactions, explain the missing heritability. From all genes identified, the pattern recognition receptor NOD2/CARD15 is still the most understood at present. The field of IBD genetics has translated itself so far in identifying pathways important for disease pathogenesis (autophagy, Th17/IL23, pattern recognition receptors and innate immunity, barrier integrity), some of which have promising therapeutic consequences. Second, although genetic testing will most likely have no or a very limited role in diagnosing patients, it is anticipated that genetic markers will be implemented in an integrated prognostic approach. Efforts to predict disease course and response to therapy have shown interesting results.
在炎症性肠病的遗传易感性方面，研究的规模非常庞大。自 1997 年开始的国际合作努力从未停止过，目前已经确定了 100 多个 IBD 风险位点。然而，只有 25%的遗传变异得到了解释。据推测，罕见变异、其他形式的遗传变异（拷贝数变异）以及基因-基因和基因-环境相互作用，解释了遗传缺失的原因。在所有已确定的基因中，模式识别受体 NOD2/CARD15 目前是最被理解的。IBD 遗传学领域已经在确定对疾病发病机制重要的途径方面取得了进展（自噬、Th17/IL23、模式识别受体和先天免疫、屏障完整性），其中一些具有有希望的治疗效果。其次，尽管基因检测在诊断患者方面可能没有作用或作用非常有限，但预计遗传标记将被纳入综合的预后方法中。预测疾病进程和治疗反应的努力已经取得了有趣的结果。
