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心筋病と妊娠前出血症
Hilary S Gammill1,2, Rakesh Chettier3, Alina Brewer3,4
1Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of Washington, Seattle (H.S.G., R.S.).
Circulation
|July 20, 2018
まとめ
妊娠前出血症は,特にTTN遺伝子における心筋病を引き起こす遺伝子変異と関連しています. これらの発見は,妊娠前出血症患者の心血管リスクの遺伝的根拠を示唆しています.
科学分野:
- 心血管遺伝学
- 生殖医学
- ゲノム医学
背景:
- 妊娠前出血症は,腹筋機能不全や心筋病など,母性心血管疾患と関連しています.
- Idiopathic cardiomyopathyに関連した遺伝子変異は,分娩周りの心筋病症に関連している.
- 妊娠前出血症における心臓筋病遺伝子変異の役割は不明である.
研究 の 目的:
- 心筋病変遺伝子の変異が妊娠前出血症の発生に寄与するかどうかを調査する.
- 患者コホートにおける妊娠前出血症に関連する特定の遺伝子変異を特定する.
主な方法:
- 181人の妊娠前出血症の被験者に全エクソマシーケンスを施し,対照群と比較した.
- 43の心筋病遺伝子の希少変異 (MAF < 0. 1%) を分析した.
- 機能の喪失と有害な誤った意味の変種が特定され,定量化されました.
主要な成果:
- 妊娠前不全の被験者は,コントロールと比較して,心筋病遺伝子の希少な機能喪失変異の有意に高い流行を示した (P=0. 014).
- 妊娠前出血症患者の68%は 少なくとも1つの機能喪失または有害な異常変異を発症しました
- TTN遺伝子は,大部分の変異 (55%) を抱え,妊娠前の被験者の73%がTTN変異を有し,対照群の48%であった (P=1. 36E-11).
結論:
- 妊娠前出血症の女性は,心臓病に関連する遺伝子,特にTTNのタンパク質変異を 持つ可能性が高くなります.
- これらの変異は,妊娠前出血症,イディオパシー性心筋症,および分娩周りの心筋症において一般的であり,心血管疾患におけるより広範な役割を果たしていることを示している.
- これらの変異を特定することで リスクの高い女性の診断,分類,カウンセリング,管理が改善できます
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