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Genetic variation affects congenital heart defect susceptibility in offspring exposed to maternal tobacco use
Birth defects research. A Clinical and molecular teratology, 2015-10, Vol.103 (10), p.834-842
Tang, Xinyu
Hobbs, Charlotte A.
Cleves, Mario A.
Erickson, Stephen W.
MacLeod, Stewart L.
Malik, Sadia
2015
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Tang, Xinyu
Hobbs, Charlotte A.
Cleves, Mario A.
Erickson, Stephen W.
MacLeod, Stewart L.
Malik, Sadia
Titel
Genetic variation affects congenital heart defect susceptibility in offspring exposed to maternal tobacco use
Ist Teil von
Birth defects research. A Clinical and molecular teratology, 2015-10, Vol.103 (10), p.834-842
Ort / Verlag
United States: Blackwell Publishing Ltd
Erscheinungsjahr
2015
Quelle
Wiley Online Library Journals Frontfile Complete
Beschreibungen/Notizen
Background 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. Methods 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. Results 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. Conclusion 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. Birth Defects Research (Part A) 103:834–842, 2015. © 2015 Wiley Periodicals, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1542-0752
eISSN: 1542-0760
DOI: 10.1002/bdra.23370
Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4774247
Format
–
Schlagworte
Adult
,
congenital heart defects
,
Female
,
Genetic Predisposition to Disease
,
genetic variants
,
Heart Defects, Congenital - genetics
,
Humans
,
Maternal Exposure - adverse effects
,
national birth defects prevention study
,
Polymorphism, Single Nucleotide
,
Pregnancy
,
single nucleotide polymorphisms
,
Smoking - adverse effects
,
Smoking - genetics
,
tobacco use
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