Freeman Sallie B, Bean Lora H, Allen Emily G, Tinker Stuart W, Locke Adam E, Druschel Charlotte, Hobbs Charlotte A, Romitti Paul A, Royle Marjorie H, Torfs Claudine P, Dooley Kenneth J, Sherman Stephanie L
Department of Human Genetics, Emory University, Atlanta, Georgia 30033, USA.
Genet Med. 2008 Mar;10(3):173-80. doi: 10.1097/GIM.0b013e3181634867.
The population-based National Down Syndrome Project combined epidemiological and molecular methods to study congenital heart defects in Down syndrome.
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.
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, 1.40-2.67) 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, 0.30-0.77). No associations were found with origin of the nondisjunction error or with the presence of gastrointestinal defects.
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.
基于人群的国家唐氏综合征项目结合了流行病学和分子方法来研究唐氏综合征患者的先天性心脏缺陷。
在2000年至2004年期间，六个地点收集了父母和婴儿的DNA、临床及流行病学信息。我们使用逻辑回归分析与最常见的唐氏综合征相关心脏缺陷有关的因素。
在1469名符合条件的婴儿中，44%存在主要心脏缺陷；房室间隔缺损（39%）、继发孔型房间隔缺损（42%）、室间隔缺损（43%）和法洛四联症（6%）。房室间隔缺损在性别和种族方面差异最为显著，受影响的女性数量是男性的两倍（优势比为1.93；95%置信区间为1.40 - 2.67），与白人相比，黑人受影响的数量是白人的两倍（优势比为2.06；95%置信区间为1.32 - 3.21），而西班牙裔受影响的数量只有白人的一半（优势比为0.48；95%置信区间为0.30 - 0.77）。未发现与不分离错误的起源或胃肠道缺陷的存在有关联。
唐氏综合征患者的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风险因素对于我们理解先天性心脏缺陷的病因至关重要。
