Artículo
Polymorphisms in NR5A2, gene encoding liver receptor homolog-1 are associated with preterm birth
Kaluarachchi, Dinushan C.; Momany, Allison M.; Busch, Tamara D.; Gimenez, Lucas Gabriel
; Saleme, Cesar; Cosentino, Viviana Raquel; Christensen, Kaare; Dagle, John M.; Ryckman, Kelli K.; Murray, Jeffrey C.
Fecha de publicación:
05/2016
Editorial:
International Pediatric Research Foundation
Revista:
Pediatric Research
ISSN:
0031-3998
Idioma:
Inglés
Tipo de recurso:
Artículo publicado
Clasificación temática:
Resumen
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.
Palabras clave:
Preterm Birth
,
Candidate Genes
Archivos asociados
Licencia
Identificadores
Colecciones
Articulos(CEMIC-CONICET)
Articulos de CENTRO DE EDUCACION MEDICA E INVESTIGACIONES CLINICAS "NORBERTO QUIRNO"
Articulos de CENTRO DE EDUCACION MEDICA E INVESTIGACIONES CLINICAS "NORBERTO QUIRNO"
Citación
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
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