炎症性肠病基因学研究进展和应用价值

Genetic Study of Inflammatory Bowel Disease and its Clinical Application

炎症性肠病(IBD)是发生于胃肠道的不明原因慢性非特异性炎症性疾病,其发生可能与肠黏膜免疫应答异常、肠道微生物、肠黏膜屏障损伤、遗传易感性以及环境等因素有关。近年来,IBD基因学研究取得巨大进展,并对临床转化和应用有重要帮助,尤其是能解释疾病发生原因和发病部位、判断疾病行为、预测药物治疗方案的有效性,从而服务于临床诊断和治疗。本文总结既往IBD基因学研究成果和新进展,客观阐述基因学研究在IBD疾病管理中的潜在应用价值。

Inflammatory bowel disease(IBD)is an idiopathic and chronic non-specific inflammatory disease of gastrointestinal tract.Abnormal immune response in intestinal mucosa toward commensal microbiota together with intestinal mucosal barrier defects,genetic and environmental factors might be associated with the pathogenesis of human IBD.In recent years,great progress has been made in genetic study of IBD,providing important help for clinical translation and application.Genetic analysis will help us to explain the etiology and lesional areas of IBD,predict the disease behaviors and effectiveness of treatment,thereby benefits the clinical diagnosis and treatment of the disease.This review summarizes the latest achievements and new progresses in genetic study and clarifies the potential value of genetic study in management of IBD.