Journal article
Genetic variation affects congenital heart defect susceptibility in offspring exposed to maternal tobacco use
Birth defects research. A Clinical and molecular teratology, Vol.103(10), pp.834-842
10/2015
DOI: 10.1002/bdra.23370
PMCID: PMC4774247
PMID: 26033827
Abstract
Congenital heart defects (CHDs) are among the most prevalent and serious birth defects, occurring in 8 to 10 of every 1000 live births in the United States. Epidemiologic studies have reported an association between CHDs and maternal smoking, but it remains unknown how genes impact the susceptibility of offspring to CHDs in the presence of maternal tobacco use.
Using data from 403 case- and 219 control-parental triads enrolled in the National Birth Defects Prevention Study between 1998 and 2008, we investigated the association between CHDs and maternal and infant genetic variants involved in the tobacco metabolism and DNA repair pathways among mothers who smoked prenatally.
The maternal genotypes of single nucleotide polymorphisms in the excision repair cross-complementation group 1 (ERCC1), poly (ADP-ribose) polymerase 2 (PARP2), and ERCC5 genes were identified to be significantly associated with the occurrence of CHDs in the presence of maternal tobacco use. Our analysis also revealed a moderate association between the infant genotypes of polymorphisms in the O-sialoglycoprotein endopeptidase (OSGEP) gene and increased risk of CHDs among mothers who smoked.
Our study provides evidence that maternal and infant polymorphisms within the ERCC1, PARP2, ERCC5, and OSGEP genes are associated with CHD risk in the presence of maternal tobacco use. These results may provide insight into the susceptibility of having a pregnancy affected by CHDs among women who smoke.
Details
- Title: Subtitle
- Genetic variation affects congenital heart defect susceptibility in offspring exposed to maternal tobacco use
- Creators
- Xinyu Tang - Biostatistics Program, Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, ArkansasCharlotte A Hobbs - Division of Birth Defects Research, Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, ArkansasMario A Cleves - Division of Birth Defects Research, Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, ArkansasStephen W Erickson - Department of Biostatistics, College of Public Health, University of Arkansas for Medical Sciences, Little Rock, ArkansasStewart L MacLeod - Division of Birth Defects Research, Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, ArkansasSadia Malik - Division of Birth Defects Research, Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, ArkansasNational Birth Defects Prevention Study
- Contributors
- Paul A Romitti (Contributor) - University of Iowa, Epidemiology
- Resource Type
- Journal article
- Publication Details
- Birth defects research. A Clinical and molecular teratology, Vol.103(10), pp.834-842
- DOI
- 10.1002/bdra.23370
- PMID
- 26033827
- PMCID
- PMC4774247
- NLM abbreviation
- Birth Defects Res A Clin Mol Teratol
- ISSN
- 1542-0752
- eISSN
- 1542-0760
- Publisher
- Wiley
- Grant note
- K08 HL090494 / NHLBI NIH HHS 5K08HL090494 / NHLBI NIH HHS
- Language
- English
- Date published
- 10/2015
- Academic Unit
- Epidemiology; Biostatistics
- Record Identifier
- 9984214683702771
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