ゲノム全体の関連研究をどのように解釈するか
Thomas A Pearson1, Teri A Manolio
1Office of Population Genomics, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-2154, USA.
JAMA
|March 20, 2008
まとめ
ゲノム全体の関連研究は,単核酸ポリモルフィズム (SNP) を使用した疾患の遺伝的変異を特定します. GWAの研究は発見に価値がありながら,限界があり,現在,直接的な臨床用途ではなく,発見ツールです.
科学分野:
- 遺伝学とゲノミクス
- 人間の遺伝学 人間の遺伝学
背景:
- 全ゲノム関連研究 (GWA) は,一般的な疾患や特徴に関連した遺伝的変異を特定するための重要なツールです.
- ハイ・スループット・ゲノタイピングは,遺伝的関連性を明らかにするために,数十万の単核酸ポリモルフィズム (SNP) を分析します.
研究 の 目的:
- GWA研究の設計,解釈,応用,および限界を記述する.
- 臨床医と科学者に,この進化する分野についての理解を提供するためです.
主な方法:
- 高通量ゲノタイプ化技術を活用して,多数の単核酸ポリモルフィズム (SNP) を分析します.
- 特定されたSNPを臨床状態と統計分析を通じて測定可能な特徴と関連付けます.
主要な成果:
- 2005年以来,最大40の一般的な疾患と特徴のほぼ100のロシが特定され,複製されています.
- 発見には,新しい遺伝子やゲノム領域が含まれるが,以前は病気と関連づけられていなかったものもある.
結論:
- GWAの研究は,ゲノム機能と疾患メカニズムを理解するための強力な発見ツールです.
- 制限には,偽陽性/偽陰性およびバイアスの可能性が含まれます; 直接的な臨床応用はまだ開発中です.
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