公衆衛生74巻9号

2010年09月発行

特集 分子遺伝疫学

がんの分子遺伝疫学

著者： 林奉権¹² 楠洋一郎¹²

所属機関： ¹財団法人放射線影響研究所放射線生物学 ²財団法人放射線影響研究所分子疫学部

ページ範囲：P.738 - P.743

はじめに

　1970年からの分子生物学の急速な発達により，ゲノム研究は大きく発展を遂げてきた．特に，ヒトゲノムプロジェクトでは全ゲノム中の約1,000bp当たりに1つ存在する単一塩基多型(single nucleotide polymorphism;以下SNP)に基づいて，個人間に存在する広範な遺伝的多様性が明らかになりつつある．このゲノム研究の進展により，個人の遺伝的特性を遺伝子多型によって表すことが可能となった．ヒトゲノムの個人間の高度な多様性は遺伝子発現や蛋白質機能に影響を及ぼすことによって，発がん感受性の個人差に関係していると考えられる．がんのゲノム関連解析を行う場合，がんの発生機序などから特定のゲノム領域/遺伝子のSNPに絞って解析を行う候補遺伝子探索，および全ゲノム領域のSNPを対象に行うゲノム網羅的探索がある．

　本稿では，遺伝子多型と発がんリスクの研究について，最近の網羅的探索研究の進展と現状を概括し，さらに免疫に関連すると考えられる遺伝子群の多型を中心とした筆者らの研究を，候補遺伝子探索研究の1例として紹介したい．

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