Guo Changcun, Wu Kaichun
Department of Gastroenterology, Xijing Hospital, The Fourth Military Medical University, Xi'an, China.
Dig Dis. 2016;34(1-2):5-11. doi: 10.1159/000442917. Epub 2016 Mar 16.
Genetic factors play an important role in the pathogenesis of inflammatory bowel disease (IBD), and IBD is now recognized as a complex disease that results from interplay between genetic and environment factors. To date, over 160 IBD-susceptible loci have been identified using genome-wide association studies (GWAS). The risk genes identified in these studies are involved in various pathways in innate and adaptive immune response such as innate bacterial sensing, autophagy and interleukin-23 receptor/T-helper cell 17 pathway. It was initially believed that the genetic backgrounds of Asian IBD patients differ from that of other populations. Recent GWAS and meta-analysis found that there is pervasive sharing of risk loci between the East and West. Overlapping risk genes between populations of different ancestries indicate that pathways underlying the etiology of IBD may be common between Asia and other areas. However, the importance of individual pathways may be different in Asia from the Western countries. Identifying the most important pathways affected in Asian IBD patients may provide a better understanding of pathogenesis of IBD in Asia and improve the clinical management of the patients.
遗传因素在炎症性肠病(IBD)的发病机制中起着重要作用,目前IBD被认为是一种由遗传因素和环境因素相互作用导致的复杂疾病。迄今为止,通过全基因组关联研究(GWAS)已鉴定出160多个IBD易感基因座。这些研究中确定的风险基因参与了固有免疫和适应性免疫反应的各种途径,如固有细菌感知、自噬以及白细胞介素-23受体/T辅助细胞17途径。最初人们认为亚洲IBD患者的遗传背景与其他人群不同。最近的GWAS和荟萃分析发现,东西方之间存在普遍的风险基因座共享。不同血统人群之间重叠的风险基因表明,IBD病因背后的途径在亚洲和其他地区可能是相同的。然而,亚洲个体途径的重要性可能与西方国家不同。确定亚洲IBD患者中受影响最重要的途径可能有助于更好地理解亚洲IBD的发病机制,并改善患者的临床管理。