染色体16p11.2の欠損による新しい高度に浸透した肥満の形態です
R G Walters1, S Jacquemont, A Valsesia
1Section of Genomic Medicine, Imperial College London, London W12 0NN, UK.
Nature
|February 5, 2010
まとめ
16p11.2の稀な遺伝的欠損は重度の肥満と強く関連しており,一般的な変異理論に挑戦しています. 極端な肥満症例の研究は,遺伝性に貢献する珍しい遺伝的要因を明らかにするのに役立ちます.
科学分野:
- 遺伝学 遺伝学とは
- 公衆衛生は公衆衛生である.
- 肥満に関する研究
背景:
- 肥満は,環境と遺伝子が影響する世界的な健康問題です.
- 全ゲノム関連研究 (GWAS) は,肥満に関連する多くの単一ヌクレオチドポリモルフィズムを特定したが,遺伝性はほとんど説明できない.
- "共通病,共通変異"という仮説は,ますます疑問視されている.
研究 の 目的:
- 重度の肥満における希少遺伝子変異の役割を調査する.
- 肥満の"遺伝性の欠如"に寄与する遺伝的要因を特定する.
- 遺伝的発見のための極端な現象型の研究の有用性を探求する.
主な方法:
- 肥満と認知障害のある31人の被験者における16p11.2デリエーションの分析.
- ヨーロッパ人16,053人のGWASデータで19件の類似の削除を特定しました.
- 病的な肥満の症例と健康な対照群の削除頻度の比較.
主要な成果:
- 16p11.2の異合性欠損は,病的な肥満症例の0.7%で発見されました (OR=43.0,P=6.4x10^-8).
- これらの消去は,肥満でない健康な対照群では見られなかった.
- 強い効果を持つ稀な変種は,肥満のような一般的な疾患において重要である.
結論:
- 16p11.2のデリエーションのような稀な変異は,肥満の遺伝性に大きく寄与する.
- 極端な現象型を持つコホートを研究することは,希少な変異を発見するための強力な戦略です.
- 極端な現象型の研究を集団コホートと組み合わせると,複雑な特徴に対するさらなる遺伝的貢献が明らかになる.
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