染色体16p11.2の位置における遺伝子用量に関連した,極端なBMIのフェノタイプをミラーリングする
Sébastien Jacquemont1, Alexandre Reymond, Flore Zufferey
1Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.
Nature
|September 2, 2011
まとめ
染色体16の遺伝的重複は,減量に関連した肥満と対照的に,体重不足に関連しています. この発見は,肥満と体重不足の遺伝的原因を反映し,エネルギーバランスに影響を与えることを示唆しています.
科学分野:
- 遺伝学 遺伝学とは
- 人間の生理学 人間生理学
- 発達生物学 発達生物学とは
背景:
- 肥満と体重不足の両方が,死亡率の増加と関連しています.
- 体重不足は,成長障害や食生活障害などの様々な状態の兆候です.
- 肥満とは異なり,体重不足の遺伝的変異はほとんど知られていません.
研究 の 目的:
- 体重不足の遺伝的根拠を調査する.
- 16p11.2での相互複製が,体重不足のフェノタイプを引き起こす役割を探求する.
- 16p11.2のコピー数変数とエネルギーバランス障害の関係を理解する.
主な方法:
- 臨床および集団コホートから16p11.2の相互複製の138のキャリアを特定しました.
- 産後体重,ボディマス指数 (BMI),およびキャリアにおける頭部周長を分析した.
- 食事の行動を評価し,同じ場所の消去キャリアとのフェノタイプを比較しました.
主要な成果:
- 重複のキャリアは,産後体重とBMIが低下し,体重不足のリスクが著しく増加しました (成人では8.3倍).
- 若い男性キャリアの半分は成長に失敗し,男性の重症度が増加する傾向が観察されました.
- フェノタイプには,選択的/制限的な食事と頭周りの縮小が含まれ,デリションキャリアのフェノタイプを反映した.
結論:
- 16p11.2での相互複製は,体重不足,成長障害,特定の食事行動と関連しています.
- これらの発見は,重度の肥満と体重不足が,エネルギーバランスに対する対照的な効果を通じて,鏡のような遺伝的病因を共有している可能性があることを示唆しています.
- 16p11.2 の複製数変異は,エネルギーホメオスタシスおよび関連する障害の遺伝的構造の洞察を提供します.
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