Genetic Modifiers of Patent Ductus Arteriosus in Term Infants

Priti M Patel; Allison M Momany; Kendra L Schaa; Paul A Romitti; Charlotte Druschel; Margaret E Cooper; Mary L Marazita; Jeffrey C Murray; John M Dagle

doi:10.1016/j.jpeds.2016.05.066

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Genetic Modifiers of Patent Ductus Arteriosus in Term Infants

Journal article

Open access

Peer reviewed

Genetic Modifiers of Patent Ductus Arteriosus in Term Infants

Priti M Patel, Allison M Momany, Kendra L Schaa, Paul A Romitti, Charlotte Druschel, Margaret E Cooper, Mary L Marazita, Jeffrey C Murray and John M Dagle

The Journal of pediatrics, Vol.176, pp.57-61.e1

09/2016

DOI: 10.1016/j.jpeds.2016.05.066

PMCID: PMC5003735

PMID: 27344223

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Abstract

To identify single-nucleotide polymorphisms (SNPs) in specific candidate genes associated with patent ductus arteriosus in term infants. We conducted an initial family-based, candidate gene study to analyze genotype data from DNA samples obtained from 171 term infants and their parents enrolled in the National Birth Defects Prevention Study (NBDPS). We performed transmission disequilibrium testing (TDT) using a panel of 55 SNPs in 17 genes. Replication of SNPs with P < .1 in the NBDPS trios was performed with a case-control strategy in an independent population. TDT analysis of the NBDPS trios resulted in 6 SNPs reaching the predetermined cutoff (P < .1) to be included in the replication study. These 6 SNPs were genotyped in the independent case-control population. A SNP in TGFBR2 was found to be associated with term patent ductus arteriosus in both populations after we corrected for multiple comparisons. (rs934328, TDT P = 2 × 10−4, case-control P = 6.6 × 10−5). These findings confirm the importance of the transforming growth factor-beta pathway in the closure of the term ductus arteriosus and may suggest new therapeutic targets.

CREBB

candidate gene

TRAF1

TGFBR2

Details

Title: Subtitle: Genetic Modifiers of Patent Ductus Arteriosus in Term Infants
Creators: Priti M Patel - Department of Pediatrics, University of Illinois College of Medicine, Peoria, IL
Allison M Momany - Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA
Kendra L Schaa - Department of Veterans Affairs, Office of Research and Development, Washington, DC
Paul A Romitti - Department of Epidemiology, University of Iowa, Iowa City, IA
Charlotte Druschel - Congenital Malformations Registry, New York State Department of Health, Albany, NY
Margaret E Cooper - Center for Craniofacial and Dental Genetics, Department of Oral Biology, University of Pittsburgh, PA
Mary L Marazita - Center for Craniofacial and Dental Genetics, Department of Oral Biology, University of Pittsburgh, PA
Jeffrey C Murray - Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA
John M Dagle - Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA
Resource Type: Journal article
Publication Details: The Journal of pediatrics, Vol.176, pp.57-61.e1
DOI: 10.1016/j.jpeds.2016.05.066
PMID: 27344223
PMCID: PMC5003735
NLM abbreviation: J Pediatr
ISSN: 0022-3476
eISSN: 1097-6833
Publisher: Elsevier Inc
Grant note: FY06-575 / March of Dimes (http://dx.doi.org/10.13039/100000912) R01 HD52953; P30 ES05605; R01 HL109199-04 / National Institutes of Health (http://dx.doi.org/10.13039/100000002) U50 CCU 713238 / Centers for Disease Control and Prevention (http://dx.doi.org/10.13039/100000030)
Language: English
Date published: 09/2016
Academic Unit: Biostatistics; Pediatric Dentistry; Craniofacial Anomalies Research Center; Nursing; Biochemistry and Molecular Biology; Neonatology; Anatomy and Cell Biology; International Programs; Stead Family Department of Pediatrics; Epidemiology; Iowa Neuroscience Institute; Public Policy Center (Archive); Dental Research
Record Identifier: 9983995047602771

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