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人間のSNPは,炎症性および感染性疾患における異なるアウトカムをFOXO3調節経路と関連付けています

James C Lee¹, Marion Espéli, Carl A Anderson

¹Cambridge Institute for Medical Research, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0XY, UK; Department of Medicine, University of Cambridge School of Clinical Medicine, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.

|September 17, 2013

まとめ

特定の遺伝子変異体 (rs12212067:Gアレル) は,感受性に影響を与えることなく,疾患の予後に影響を与えます. この遺伝因子は炎症反応を調節し,クローン病やリウマチ性関節炎などの疾患に影響を与えます.

科学分野:

遺伝学遺伝学とは
免疫学免疫学とは
複雑な病気複雑な病気

背景:

疾患の予後は個々人によって大きく変化し,患者の治療結果に影響を及ぼします.
この予後変動の遺伝的基盤は,依然としてほとんど未調査のままである.
全ゲノム関連研究 (GWAS) は,疾患の進行に対する遺伝的影響を調査するための強力なツールです.

研究の目的:

病気の予後を決定する遺伝因子の役割を調査する.
疾患のアウトカムに関連した特定の遺伝子変異を特定する.
遺伝的変異と疾患の進行を結びつける分子メカニズムを解明する.

主な方法:

既存の全ゲノム関連研究 (GWAS) データの分析.
FOXO3A遺伝子における特定のノンコーディングポリモルフィズム (rs12212067:T > G) の識別と特徴付け.
単細胞における炎症反応に対するマイナーアレル (G) の機能的影響の調査.

主要な成果:

rs12212067のマイナーアレル (G) は,疾患の感受性とは関係ありませんが,クローン病およびリウマチ性関節炎のより軽度の臨床経過と関連しています.
このアレルは,重度のマラリアのリスクの増加とも関連しています.
マイナーアレルの存在は,TGFβ1を含むFOXO3駆動経路を通じて単細胞の炎症反応を制限し,炎症誘発性サイトカイン (TNFαなど) を減少させ,抗炎症性サイトカイン (IL-10など) を増加させます.

結論:

異なる疾患における予後に対する共通の遺伝的貢献が特定されています.
この貢献は,炎症反応を調節するFOXO3駆動経路を介して動作します.
この発見は,病気のアウトカムを改善するための治療的介入のために,この経路をターゲットにする可能性を示しています.

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