Genetics of patent ductus arteriosus susceptibility and treatment

Hanine Hajj; John M Dagle

doi:10.1053/j.semperi.2011.09.019

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Genetics of patent ductus arteriosus susceptibility and treatment

Journal article

Peer reviewed

Genetics of patent ductus arteriosus susceptibility and treatment

Hanine Hajj and John M Dagle

Seminars in perinatology, Vol.36(2), pp.98-104

04/2012

DOI: 10.1053/j.semperi.2011.09.019

PMID: 22414880

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Abstract

The ductus arteriosus is a vital fetal structure designed to close shortly after birth. Although many physiologic and pharmacologic investigations have characterized the closure of this structure, genetic studies of persistent patency of the ductus arteriosus (patent ductus arteriosus, PDA) are relatively recent. Progress in the identification of specific genes associated with PDA is well behind that of many adult-onset diseases because of several reasons ranging from the lack of large biorepositories for this unique population to the belief that any genetic contribution to PDA is minimal. Viewing the PDA as a complex, developmentally influenced disease with both genetic and environmental risk factors has resulted in initial successes in some genetic studies. We will introduce several genetic approaches, which have been or are currently being applied to the study of PDA, that have been successful in identifying polymorphisms associated with adult diseases. Genetic investigations of PDA will be discussed with respect to heritability, in general, and to specific risk genes. Several animal models that have been used to study PDA-related genes will also be presented. Further advances in discovering genetic variation causing PDA will drive the more rational use of current therapies, and may help identify currently unknown targets for future therapeutic manipulation.

Contractile Proteins - genetics

Receptors, Transforming Growth Factor beta - genetics

Humans

Gene Expression Regulation, Developmental - genetics

Myosin Heavy Chains - genetics

Male

Zinc Finger E-box Binding Homeobox 2

Ductus Arteriosus, Patent - etiology

Infant, Premature, Diseases - genetics

Female

Ductus Arteriosus, Patent - physiopathology

Microfilament Proteins - genetics

Infant, Newborn

Disease Models, Animal

Rabbits

Ductus Arteriosus, Patent - genetics

Genetic Predisposition to Disease

Infant, Premature, Diseases - physiopathology

Infant, Premature, Diseases - etiology

Rats

Repressor Proteins - genetics

Genotype

T-Box Domain Proteins - genetics

Homeodomain Proteins - genetics

Filamins

Pregnancy

Kv1.2 Potassium Channel - genetics

Transcription Factor AP-2 - genetics

Animals

Infant, Premature

Dogs

Mice

Polymorphism, Single Nucleotide

Mutation

Details

Title: Subtitle: Genetics of patent ductus arteriosus susceptibility and treatment
Creators: Hanine Hajj - Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA
John M Dagle
Resource Type: Journal article
Publication Details: Seminars in perinatology, Vol.36(2), pp.98-104
Publisher: United States
DOI: 10.1053/j.semperi.2011.09.019
PMID: 22414880
ISSN: 0146-0005
eISSN: 1558-075X
Language: English
Date published: 04/2012
Academic Unit: Stead Family Department of Pediatrics; Epidemiology; Biochemistry and Molecular Biology; Neonatology
Record Identifier: 9984024524102771

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