臨床検査67巻10号

2023年10月発行

増大号 肝疾患　臨床検査でどう迫る？ 1章　肝関連検査の見方

肝疾患にかかわる遺伝子多型

著者： 松浦健太郎¹ 田中靖人²

所属機関： ¹名古屋市立大学大学院医学研究科消化器・代謝内科学 ²熊本大学大学院生命科学研究部消化器内科学講座

ページ範囲：P.1064 - P.1070

はじめに

　ヒト遺伝子は個人差として約300個に1個，全ゲノムで約1,000万カ所の一塩基多型（single nucleotide polymorphism：SNP）が存在し，このSNPが個々の疾患の発症，薬剤反応性や副作用に大きく関与することがさまざまな疾患において明らかとなっている．近年，網羅的なSNPタイピング技術が飛躍的に進歩し，ゲノムワイド関連解析法（genome-wide association study：GWAS）を用いることにより，肝疾患領域においても治療，病態に関連する遺伝要因が明らかにされている．

　本稿では，主にGWASにより明らかとなった肝疾患に関連する遺伝子多型について解説する（表1）．

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