Genetic variation affects congenital heart defect susceptibility in offspring exposed to maternal tobacco use. Issue 10 (2nd June 2015)

• Record Type: Journal Article
• Authors: Tang, Xinyu; Hobbs, Charlotte A.; Cleves, Mario A.; Erickson, Stephen W.; MacLeod, Stewart L.; Malik, Sadia; the National Birth Defects Prevention Study
• Is Part Of: Birth defects research. Volume 103:Issue 10(2015)
• Page Start: 834
• Page End: 842
• Publication Date: 2015-06-02
• Subjects: Teratology -- Periodicals; Abnormalities, Human -- Research -- Periodicals; Abnormalities, Human -- Periodicals; 616.043
• DOI: 10.1002/bdra.23370
• Languages: English
• ISSNs: 1542-0752

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="bdra23370-sec-0001" sec-type="section"> <title>Background</title> <p>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.</p> </sec> <sec id="bdra23370-sec-0002" sec-type="section"> <title>Methods</title> <p>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.</p> </sec> <sec id="bdra23370-sec-0003" sec-type="section"> <title>Results</title> <p>The maternal genotypes of single nucleotide polymorphisms in the excision repair cross‐complementation group 1 (<italic>ERCC1</italic>), poly (ADP‐ribose) polymerase 2 (<italic>PARP2</italic>), and <italic>ERCC5</italic> 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 (<italic>OSGEP</italic>) gene and increased risk of CHDs among mothers who smoked.</p> </sec> <sec id="bdra23370-sec-0004" sec-type="section"> <title>Conclusion</title> <p>Our study provides evidence that maternal and infant polymorphisms within the <italic>ERCC1</italic>, <italic>PARP2</italic>, <italic>ERCC5</italic>, and <italic>OSGEP</italic> 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.</p> </sec> </abstract>