ангиотензин转化酶DD基因型和心血管疾病在异合的家族性高胆固醇血症
J P O'Malley1, C L Maslen, D R Illingworth
1Department of Medicine, Oregon Health Sciences University, Portland 97201-3098, USA.
Circulation
|May 29, 1998
概括
在患有家族性高胆固醇血症 (FH) 或家族性缺陷阿波利波蛋白B-100 (FDB) 的患者中,ACE DD基因型与心肌梗塞 (MI) 和冠心病 (CHD) 的更高风险有关. 这一发现有助于识别高风险个体,以便进行早期干预.
科学领域:
- 心血管遗传学 心血管遗传学
- 分子心脏病学分子心脏病学
- 遗传流行病学遗传流行病学
背景情况:
- 关于ACE删除/删除 (DD) 基因型与心肌梗塞 (MI) 风险之间的关联存在争议.
- 研究表明,ACE DD基因型可能导致斑块不稳定.
- 异构性家族性高胆固醇血症 (FH) 或家族性缺陷阿波利波蛋白B-100 (FDB) 的患者具有冠状动脉脂质丰富斑块的高风险.
研究的目的:
- 调查假设,ACE DD基因型增加了患有异合性FH或FDB的患者心脏病和冠心病 (CHD) 的风险.
- 评估高风险患者队列中ACE基因多态和心血管事件之间的关联.
主要方法:
- 在213名患有异合性FH或FDB的成年患者中进行了ACE基因型鉴定.
- 记录了心脏病发作或心脏病手术的发生率.
- 后勤回归分析用于计算赔率比率,根据年龄,性别和吸烟史进行调整.
主要成果:
- 与II或DI基因型相比,患有ACEDD基因型的男性患者患心脏病发病率高2.5倍.
- 在DD基因型与DI+II基因型的男性患者中,心血管疾病的发病率是DD基因型的2.2倍.
- 在调整后,与ACE DD基因型相关的MI的几率比为2.57,CHD的几率比为2.21.
结论:
- ACE DD基因型与异合性FH或FDB患者心脏病发作和心脏病风险增加显著相关.
- 通过ACE基因型确定,可以帮助识别患有早发性心血管疾病风险较高的无症状FH和FDB患者.
- 这些遗传信息为脂质疾病患者的风险分层提供了额外的工具.
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