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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
dc.conicet.fuente individual


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info:eu-repo/semantics/openAccess Excepto donde se diga explícitamente, este item se publica bajo la siguiente descripción: Creative Commons Attribution 2.5 Unported (CC BY 2.5)