Neurological Surgery 脳神経外科48巻6号

2020年06月発行

連載 脳神経外科と数理学

（6）脳神経外科領域におけるゲノムワイド関連解析（GWAS)

著者： 白井雄也¹² 岡田随象¹³

所属機関： ¹大阪大学大学院医学系研究科遺伝統計学 ²大阪大学大学院医学系研究科呼吸器・免疫内科学 ³大阪大学免疫学フロンティア研究センター免疫統計学

ページ範囲：P.561 - P.570

Ⅰ．はじめに
　ゲノムワイド関連解析（genome-wide association study：GWAS）は，バリアントと形質の関連をゲノム全体で網羅的に調べる解析法であり，多くの疾患に関連するバリアントが報告されている．近年では，国際コンソーシアムやバイオバンクの台頭に伴い，100万人以上のGWASが施行されており，主要な結果は公共の財産としてデータベース化されている（GWAS catalog）¹²⁾．また，GWAS結果を活用した解析法により，疾患にかかわる細胞・組織の同定，疾患同士の関連の評価，疾患に影響するバイオマーカーの探索，他疾患からの「ドラッグ・リポジショニング」などの幅広い応用が可能となっている．
　本稿では，遺伝統計学の基礎となるGWASについて基本的な手法の説明を行い，次に脳神経外科領域での解析例，そして最後に，複数のGWAS結果を統合した解析手法について紹介する．

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