肺動脈高血圧におけるBMPR2変異と血管活性との関係
C Gregory Elliott1, Eric W Glissmeyer, Gregory T Havlena
1LDS Hospital, University of Utah School of Medicine, Salt Lake City, Utah, USA. ldgellio@ihc.com
Circulation
|May 24, 2006
まとめ
肺動脈高血圧 (PAH) とBMPR2遺伝子の変異を有する患者は,血管拡張剤に反応することは稀である. これは,BMPR2テストが将来のPAH治療戦略を導く可能性があることを示唆しています.
科学分野:
- 心血管研究 循環器科の研究
- 遺伝学とゲノミクス
- 肺内医学 肺内医学 肺内医学
背景:
- 血管活性の検査は,肺動脈高血圧 (PAH) の評価に不可欠です.
- 変形成長因子βII型受容体遺伝子 (BMPR2) 変異は,PAHの発症に関連しており,血管拡張反応に影響を与える可能性があります.
- BMPR2変異と血管活性との関係は,以前は確立されていなかった.
研究 の 目的:
- 病原性または家族性PAHの患者におけるBMPR2遺伝子変異と血管活性との関連を調べる.
- BMPR2の変異状態が,PAH患者における血管拡張反応に影響するかどうかを判断する.
主な方法:
- BMPR2 DNA配列の変異のために,イディオパシーまたは家族的なPAHを持つ67人の無関係の患者をスクリーニングしました.
- 遺伝子配列解析を用いて確認された変異.
- 非同義的なBMPR2変異を有する患者および無患者における血管活性比較.
主要な成果:
- 非同義的なBMPR2変異は67人の患者の27人 (40.3%) で発見されました.
- 血管活性は,BMPR2変異を有する患者の3.7%においてのみ観察され,BMPR2変異を持たない患者の35%と比較した (P=0.003).
- 病原性BMPR2変異が確認された22人の患者のうち,血管活性を示す患者はいなかった.
結論:
- 異症性または家族性PAHおよび非同義的なBMPR2変異を有する患者は,血管活性を示す可能性は低い.
- 長期的なPAH治療のガイドとなるBMPR2変異テストの可能性を調査するためにさらなる研究が必要である.
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