ヒトにおける全ゲノム関連研究における進展と課題

Peter Donnelly¹

¹Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK. peter.donnelly@well.ox.ac.uk

Nature

|December 17, 2008

まとめ

全ゲノム関連研究により,一般的なヒト疾患の理解が進んでいます. この研究は,病気に関連した遺伝的変異を特定し,改善された治療法と予防戦略の道を開くのに役立ちます.

科学分野:

遺伝学遺伝学とは
人間の病気ヒトの病気
医学研究医学研究

背景:

ヒトの一般的な疾患の遺伝的基礎を理解することは,10年以上にわたって重要な課題となっています.
以前の研究では,複雑な疾患に対する特定の遺伝的貢献を特定する上で限界に直面していました.

研究の目的:

ヒトの一般的な疾患の遺伝的基礎を解読する進歩を強調する.
この分野を前進させるために全ゲノム関連研究が果たす役割を強調する.

主な方法:

ゲノム全体の関連研究 (GWAS) を使用して,ゲノム全体の遺伝的多様性を分析します.
特定の局所における特定の遺伝子変異を,異なる疾患現象型と関連付ける.

主要な成果:

全ゲノム関連研究により,一般的なヒト疾患に関連した多数の遺伝子変異が成功裏に特定されています.
これらの研究は,以前の研究のボトルネックを克服し,重要な遺伝的発見を可能にしました.

結論:

遺伝的関連データは,疾患の病因学を理解する上で極めて重要です.
この研究は,改善された病気の治療法と予防戦略を開発するための新しい道筋を提供します.

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