BMPR2突变与肺动脉高血压中的血管活性之间的关系
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
概括
患有肺动脉高血压 (PAH) 和BMPR2基因变异的患者很少对血管扩张剂有反应. 这表明BMPR2测试可能指导未来的PAH治疗策略.
科学领域:
- 心血管研究研究心血管研究
- 遗传学和基因组学 在
- 肺部医学 肺部医学
背景情况:
- 血管活性测试对于评估肺动脉高血压 (PAH) 是至关重要的.
- 转化生长因子-βII型受体基因 (BMPR2) 突变与PAH的发展有关,并可能影响血管扩张反应.
- 之前还没有确定BMPR2突变与血管活性之间的关系.
研究的目的:
- 为了研究BMPR2基因变异和在患有异常或家族PAH的患者中血管活性之间的关联.
- 为了确定BMPR2突变状态是否会影响PAH患者的血管扩张反应.
主要方法:
- 选了67名与异性或家族PAH无关的患者,以检测BMPR2DNA序列变异.
- 使用基因测序确认的变异.
- 在有或没有非同义BMPR2变异的患者中比较血管活性.
主要成果:
- 在67名患者中有27名 (40.3%) 发现了非同义BMPR2变异.
- 只有3.7%的BMPR2变异患者观察到血管活性,而没有BMPR2变异的患者是35% (P=0.003).
- 在22名确诊患有病原性BMPR2变异的患者中,没有人表现出血管活性.
结论:
- 患有异常性或家族性PAH和非同义BMPR2变异的患者不太可能表现出血管活性.
- 需要进一步的研究来探索BMPR2变异测试的潜力,以指导长期PAH治疗.
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