在家庭中,先天性心脏缺陷的复发
Nina Øyen1, Gry Poulsen, Heather A Boyd
1Department of Epidemiology Research, Statens Serum Institut, Copenhagen S, Denmark. noy@ssi.dk
Circulation
|July 15, 2009
概括
先天性心脏病 (CHD) 显示出强烈的家族聚类,亲属的风险高达80倍. 然而,家族病史只占人口中整体冠状动脉疾病病例的很小比例.
科学领域:
- 心血管遗传学 心血管遗传学
- 儿童心脏病学 儿童心脏病学
- 公共卫生基因组学
背景情况:
- 对于先天性心脏病 (CHD) 的家族贡献还不太清楚.
- 估计个人风险和CHD家族病史对人口的影响至关重要.
研究的目的:
- 量化受影响个体亲属心血管疾病的个体风险.
- 为了确定由于家族病史而导致的冠状动脉疾病的种群可归因风险.
主要方法:
- 国家队列研究包括1,763,591名出生在丹麦的人 (1977-2005).
- 链接的丹麦注册表,用于患者,死亡,细胞遗传和家庭关系数据.
- 18,708例CHD病例的表型分类和复发风险比率和人口可归因风险的估计.
主要成果:
- 一级亲属的复发风险比率因心血管疾病类型而异,从单独的心室隔膜缺陷的3.4到异质性致病的79.1.
- 同一个缺陷的整体复发风险为8.15,不同缺陷的整体复发风险为2.68.
- 一级亲属的家族病史占冠心病病例的2.2% (4.2%不包括染色体异常).
结论:
- 特定的先天性心脏病表现出强烈但可变的家族聚类.
- 虽然某些心血管疾病的家族风险较高,但家族病史对心血管疾病总体人口负担的贡献很小.
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