胃と腸59巻10号

2024年10月発行

増大号 炎症性腸疾患2024

主題 炎症性腸疾患の病態

炎症性腸疾患の遺伝的背景

著者： 角田洋一¹ 内藤健夫¹ 岩城英也¹ 永井博¹ 下山雄丞¹ 諸井林太郎¹ 志賀永嗣¹ 木内喜孝² 正宗淳¹

所属機関： ¹東北大学大学院医学系研究科消化器病態学分野 ²東北大学高度教養教育・学生支援機構

ページ範囲：P.1323 - P.1330

文献概要

要旨●炎症性腸疾患の大部分は遺伝的要因，環境因子，腸内細菌叢の異常が複雑に絡み合う多因子疾患である．ゲノムワイド相関解析によってその遺伝的背景は急速に明らかになる一方で，rare variantやモザイク変異など通常の遺伝子多型解析だけではわからない遺伝的背景も明らかにされつつある．遺伝的背景には人種差の影響が強く，遺伝的な疾患発症リスク予測が試みられているが，白人以外に東アジア人などのより多人種のデータの蓄積が必要である．また，monogenic IBDなど遺伝子解析が臨床につながりつつあり，今後の遺伝子解析結果の蓄積から，新たな研究や臨床応用が期待される．

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