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dc.contributor.author
Kaluarachchi, Dinushan C.
dc.contributor.author
Momany, Allison M.
dc.contributor.author
Busch, Tamara D.
dc.contributor.author
Gimenez, Lucas Gabriel
dc.contributor.author
Saleme, Cesar
dc.contributor.author
Cosentino, Viviana Raquel
dc.contributor.author
Christensen, Kaare
dc.contributor.author
Dagle, John M.
dc.contributor.author
Ryckman, Kelli K.
dc.contributor.author
Murray, Jeffrey C.
dc.date.available
2018-03-27T17:49:56Z
dc.date.issued
2016-05
dc.identifier.citation
Kaluarachchi, Dinushan C.; Momany, Allison M.; Busch, Tamara D.; Gimenez, Lucas Gabriel; Saleme, Cesar; et al.; Polymorphisms in NR5A2, gene encoding liver receptor homolog-1 are associated with preterm birth; International Pediatric Research Foundation; Pediatric Research; 79; 5; 5-2016; 776-780
dc.identifier.issn
0031-3998
dc.identifier.uri
http://hdl.handle.net/11336/40172
dc.description.abstract
Preterm birth (PTB) is a major cause of neonatal mortality and morbidity. There is strong evidence of genetic susceptibility. Objective of this study was to identify genetic variants contributing to PTB.Methods:Genotyping was performed for 24 single nucleotide polymorphisms (SNPs) in 4 candidate genes (NR5A2, FSHR, FOXP3, and SERPINH1). Genotyping was completed on 728 maternal triads (mother and maternal grandparents of a preterm infant). Data were analyzed with Family Based Association Test.Results:For all maternal triads rs2737667 of NR5A2 showed significant association at P = 0.02. When stratifying by gestational age three SNPs in NR5A2 had P values < 0.05 in the < 32-wk gestational age group (rs12131233, P = 0.007; rs2737667, P = 0.04; rs2816949, P = 0.02). When preterm premature rupture of membranes cases were excluded rs2737667 of NR5A2 showed the strongest association with a P value <0.0002. This association remained significant after correction for multiple testing.Conclusion:This study suggests a potential association between intronic SNPs in the NR5A2 gene and PTB. NR5A2 gene encodes for the liver receptor homolog-1 protein, which plays a critical role in regulation of cholesterol metabolism, steroidogenesis, and progesterone synthesis. These findings suggest that NR5A2 may be important in the pathophysiology of PTB and exploring noncoding regulators of NR5A2 is warranted.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
International Pediatric Research Foundation
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by/2.5/ar/
dc.subject
Preterm Birth
dc.subject
Candidate Genes
dc.subject.classification
Salud Ocupacional
dc.subject.classification
Ciencias de la Salud
dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Polymorphisms in NR5A2, gene encoding liver receptor homolog-1 are associated with preterm birth
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2018-03-27T14:49:38Z
dc.journal.volume
79
dc.journal.number
5
dc.journal.pagination
776-780
dc.journal.pais
Estados Unidos
dc.journal.ciudad
The Woodlands
dc.description.fil
Fil: Kaluarachchi, Dinushan C.. University of Iowa; Estados Unidos
dc.description.fil
Fil: Momany, Allison M.. University of Iowa; Estados Unidos
dc.description.fil
Fil: Busch, Tamara D.. University of Iowa; Estados Unidos
dc.description.fil
Fil: Gimenez, Lucas Gabriel. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas ; Argentina
dc.description.fil
Fil: Saleme, Cesar. Provincia de Tucumán. Ministerio de Salud. Instituto de Maternidad y Ginecología Nuestra Señora de las Mercedes. Departamento de Neonatología; Argentina
dc.description.fil
Fil: Cosentino, Viviana Raquel. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; Argentina
dc.description.fil
Fil: Christensen, Kaare. University of Southern Denmark. Department of Epidemiology; Dinamarca
dc.description.fil
Fil: Dagle, John M.. University of Iowa; Estados Unidos
dc.description.fil
Fil: Ryckman, Kelli K.. University of Iowa; Estados Unidos
dc.description.fil
Fil: Murray, Jeffrey C.. University of Iowa; Estados Unidos
dc.journal.title
Pediatric Research
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1038/pr.2016.7
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.nature.com/articles/pr20167


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