共通する遺伝的変異は,人間の皮質下脳の構造に影響を与えます

Derrek P Hibar¹, Jason L Stein², Miguel E Renteria³

¹Imaging Genetics Center, Institute for Neuroimaging &Informatics, Keck School of Medicine of the University of Southern California, Los Angeles, California 90292, USA.

Nature

|January 22, 2015

まとめ

遺伝的変異は,ヒトの脳構造,特に皮質下部の領域,例えばパウタメンや尾状核に大きな影響を及ぼします. この研究では,脳の容量に対する新しい遺伝的影響を特定し,発達と神経精神疾患の洞察を提供しました.

科学分野:

神経遺伝学神経遺伝学
人間の脳の解剖学人間の脳の解剖学
分子精神医学は分子精神医学である.

背景:

人間の脳構造は,遺伝的要因によって大きく影響を受けます.
皮質下脳の領域は,運動制御,学習,記憶,および動機付けに不可欠です.
脳回路の障害は,異常な行動や神経疾患に関連しています.

研究の目的:

共通遺伝子の変異が7つの脳皮下領域と頭蓋内領域の体積にどのように影響するか調査する.
皮質下脳の構造と関連した新しい遺伝的位置を特定する.
遺伝子変異が脳構造に及ぼす特定の体積効果を理解する.

主な方法:

全ゲノム関連研究 (GWAS) は,磁気共鳴画像 (MRI) データで実施されました.
データには,50の独立したコホートから30,717人の個人が含まれていました.
分析は,七つの下皮質領域の体積と頭蓋内体積に焦点を当てた.

主要な成果:

プタメンとカウダート核の体積に影響を与える5つの新しい遺伝子変異が特定されました.
ヒッポキャンパスと頭蓋内体積と以前に関連していた3つの位置について,より強力な証拠が見つかりました.
変種は,KTN1遺伝子発現に影響するプタメンの体積に最も強い影響を及ぼし,特定の体積効果を示した.

結論:

遺伝的変異は,ヒトの皮質下脳構造の体積調節に特定の役割を果たします.
特定された変異は,ヒトの脳発達の変化性の遺伝的基礎についての洞察を提供します.
これらの遺伝的基盤を理解することで,神経精神疾患の機能不全のメカニズムを明らかにすることができます.

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