炎症性腸疾患の遺伝的背景

Genetic Background of Inflammatory Bowel Disease

近年，炎症性腸疾患（IBD）におけるゲノム研究が進み，約160の関連遺伝子領域が同定された．しかしながら，人種差や環境の違いにより疾患関連遺伝子の影響度が異なることも明らかになっており，IBDの遺伝的要因に関する複雑な病態が改めて浮き彫りになっている．一方で，断片的とはいえ同定されたIBD関連遺伝子から新たなdisease pathwayを想定することが可能となり，病態解明の糸口や治療のターゲットになっている．さらに，遺伝子多型からみたIBDの発症，自然史，あるいは治療反応性の予測も試みられている．

　With the accumulation of genetic research, approximately 160 loci have been suggested as susceptibility genes for IBD（inflammatory bowel disease）. However, most of the genetic background of IBD still remains to be elucidated. It has been suggested that the impact of those susceptibility genes on the pathogenesis of IBD is affected by the ethnicity of the study population and a variety of environmental factors. Even with such limitations, the identification of the susceptibility genes has provided novel disease pathways for the understanding of the pathogenesis of IBD. In addition, the association of those loci with the clinical features of IBD has also been under investigation.