脳の一般的な疾患における共有遺伝性の分析
, Verneri Anttila1,2,3, Brendan Bulik-Sullivan4,3
1Analytic Translational Genetics Unit, Massachusetts General Hospital Harvard Medical School, Boston, Massachusetts, USA. verneri.anttila@gmail.com acorvin@tcd.ie bneale@broadinstitute.org.
まとめ
遺伝分析により 精神疾患は 共通のリスク変種を持ち 神経学的疾患は 異なる傾向にあることが分かりました これは脳障害の原因となる 共通の遺伝因子を強調しています
科学分野:
- 神経科学
- 遺伝学
- 精神科
背景:
- 脳障害はしばしば重複する症状と 流行病学的な併発性があり,共通の根本的な原因を示唆しています.
- 効果的な治療法と予防戦略の開発には 病因的な重なり合いを理解することが重要です
研究 の 目的:
- 25種類の脳疾患の 遺伝的重なりを定量化するために
- 認知機能の測定を含む脳疾患と17の関連表型との遺伝的関係を調査する.
- 統計的な力,診断の正確性,および遺伝的相関推定に対する現象的異質性の影響を調査する.
主な方法:
- 25の脳疾患に関する265,218人の患者と784,643人の対照群の全ゲノム関連研究 (GWAS) のデータを利用した.
- 1,191,588人のデータを用いて 17のフェノタイプとの遺伝的共有を分析した.
- 様々な要因が遺伝的相関に及ぼす影響を評価するシミュレーションを実施した.
主要な成果:
- 精神疾患は,一般的な変異のリスクの有意な共有を示した.
- 神経学的障害は 遺伝的に互いに 精神疾患とは 異なるようでした
- 脳の障害と認知現象の 重要な遺伝的相関を特定した.
結論:
- 一般的な遺伝的変異は 脳疾患の危険因子として 重要な役割を果たします
- 遺伝性に基づいた方法は,脳疾患の病因を明らかにするのに価値があります.
- 発見は脳疾患の併発性の基礎にある 複雑な遺伝構造を強調しています
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