Journal article
Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project
Genetics in medicine, Vol.10(3), pp.173-180
03/2008
DOI: 10.1097/GIM.0b013e3181634867
PMID: 18344706
Abstract
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.
Details
- Title: Subtitle
- Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project
- Creators
- Sallie B Freeman - Department of Human Genetics, Emory University, Atlanta, Georgia 30033, USA. sfreeman@genetics.emory.eduLora H BeanEmily G AllenStuart W TinkerAdam E LockeCharlotte DruschelCharlotte A HobbsPaul A RomittiMarjorie H RoyleClaudine P TorfsKenneth J DooleyStephanie L Sherman - Emory University
- Resource Type
- Journal article
- Publication Details
- Genetics in medicine, Vol.10(3), pp.173-180
- Publisher
- United States
- DOI
- 10.1097/GIM.0b013e3181634867
- PMID
- 18344706
- ISSN
- 1098-3600
- eISSN
- 1530-0366
- Grant note
- M01 RR00039 / NCRR NIH HHS R01 HD38979 / NICHD NIH HHS UL1 TR000454 / NCATS NIH HHS P01 HD24605 / NICHD NIH HHS F32 HD046337 / NICHD NIH HHS T32 GM008490 / NIGMS NIH HHS
- Language
- English
- Date published
- 03/2008
- Academic Unit
- Epidemiology; Biostatistics
- Record Identifier
- 9983995170502771
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