エストロゲン受容体アルファ遺伝子変異と心血管疾患との関連
Amanda M Shearman1, L Adrienne Cupples, Serkalem Demissie
1Center for Cancer Research, Massachusetts Institute of Technology, Cambridge, Mass 02139, USA. shearman@mit.edu
JAMA
|November 6, 2003
まとめ
一般的なESR1c.454-397CC遺伝子型は,心筋梗塞 (MI) と大動脈硬化性心血管疾患 (CVD) のリスクを大幅に増加させます. この遺伝的変異は,特に男性におけるCVD感受性におけるエストロゲン受容体の役割を強調しています.
科学分野:
- 遺伝学 遺伝学とは
- 心血管医学 心血管医学
- エンドクリノロジー エンドクリノロジー
背景:
- エストロゲン受容体アルファ (ESR1) は,心血管疾患 (CVD) の危険因子において役割を果たします.
- ESR1の遺伝子変異がCVDリスクに与える影響について,理解は限られている.
研究 の 目的:
- ESR1 c.454-397T>Cポリモルフィズムと心血管疾患 (CVD) のリスクとの関連を調査する.
主な方法:
- フレミングハム心臓研究 (Framingham Heart Study) の子孫コホートから,1739人の個人を対象に実施した前向きな研究.
- 1971年から1998年のフォローアップ.
- 心筋梗塞 (MI) を含む動脈硬化性CVDイベントの分析.
主要な成果:
- ESR1c.454-397CCの遺伝子型は,大動脈硬化性CVD (OR,2.0;P=.004) と有意に関連していた.
- CC遺伝子型を持つ個人は,心筋梗塞 (MI) の確率が3.0倍増加した (P<.001).
- アソシエーションは,男性では依然として有意であった.
結論:
- ESR1c.454-397CCの遺伝子型は,心筋梗塞のリスクの大幅な増加と関連しています.
- エストロゲン受容体の変異は,特に男性において,CVDの感受性において重要である.
- 原因を特定し,女性におけるホルモン療法への影響を調べるためにさらなる研究が必要である.
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