Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project
Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project
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DOI：
10.1097/gim.0b013e3181634867
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发表时间：
2008-03-01
影响因子：
8.8
通讯作者：
Sherman, Stephanie L.
中科院分区：
文献类型：
--
作者：
Freeman, Sallie B.;Bean, Lora H.;Sherman, Stephanie L.
目的：以人群为基础的国家唐氏综合症项目结合流行病学和分子方法研究唐氏综合征的先天性心脏缺陷。方法：在2000至2004年间，6个站点收集了父母和婴儿的DNA、临床和流行病学信息。我们使用Logistic回归来检查与最常见的唐氏综合征相关心脏缺陷相关的因素。结果：在1469例符合条件的新生儿中，主要心脏畸形占44%，房室间隔缺损占39%，继发孔型房间隔缺损占42%，室间隔缺损占43%，法洛四联症占6%。房室间隔畸形表现出最显著的性别和种族差异，受影响的女性是白人的两倍(优势比，1.93；95%可信区间，1.40-2.6-17)，黑人(优势比，2.06；95%可信区间，1.32-3.21)是白人的两倍，西班牙裔(优势比，0.48；95%可信区间，0.300.77)的一半。未发现与不分离错误的来源或存在胃肠道缺陷有关。结论：唐氏综合征房室间隔缺损存在性别和种族差异。识别与这些差异相关的遗传和环境危险因素对于我们理解先天性心脏缺陷的病因至关重要。
Purpose: The population-based National Down Syndrome Project combined epidemiological and molecular methods to study congenital heart defects in Down syndrome. Methods: Between 2000 and 2004, six sites collected DNA, clinical, and epidemiological information on parents and infants. We used logistic regression to examine factors associated with the most common Down syndrome-associated heart defects. Results: Of 1469 eligible infants, major cardiac defects were present in 44%; atrioventricular septal defect (39%), secundum atrial septal defect (42%), ventricular septal defect (43%), and tetralogy of Fallot (6%). Atrioventricular septal defects showed the most significant sex and ethnic differences with twice as many affected females (odds ratio, 1.93; 95% confidence interval, 1.40-2.6-17) and, compared with whites, twice as many blacks (odds ratio, 2.06; 95% confidence interval, 1.32-3.21) and half as many Hispanics (odds ratio, 0.48; 95% confidence interval, 0.300.77). No associations were found with origin of the nondisjunction error or with the presence of gastrointestinal defects. Conclusions: Sex and ethnic differences exist for atrioventricular septal defects in Down syndrome. Identification of genetic and environmental risk factors associated with these differences is essential to our understanding of the etiology of congenital heart defects.