Estrogen receptor alpha polymorphism in boys with constitutional delay of growth and puberty
Annals of Pediatric Endocrinology & Metabolism
; : 71-75, 2013.
Article
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| WPRIM
| ID: wpr-133879
Biblioteca responsable:
WPRO
ABSTRACT
PURPOSE: There were a lot of reports regarding associations of polymorphisms in the estrogen receptor alpha (ESR1). with many disorders. But, those with constitutional delay of growth and puberty (CDGP) are not known. Our aim is to find out any association between CDGP and ESR1. METHODS: In a total of 27 subjects, we compared 7 CDGP patients with 20 healthy controls with their heights and sexual maturity rates were within normal range. We selected three single nucleotide polymorphisms from intron 1 of ESR1 (rs3778609, rs12665044, and rs827421) as candidates, respectively. RESULTS: In genotype analyses, the frequency of G/G genotype at rs827421 in intron 1 of ESR1 was increased in CDGP boys (P=0.03). CONCLUSION: The genetic variation of ESR1 can be a contributing factor of tempo of growth and puberty.
Palabras clave
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Valores de Referencia
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Variación Genética
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Intrones
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Pubertad
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Polimorfismo de Nucleótido Simple
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Óxidos N-Cíclicos
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Receptor alfa de Estrógeno
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Estrógenos
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Genotipo
Límite:
Humans
Idioma:
En
Revista:
Annals of Pediatric Endocrinology & Metabolism
Año:
2013
Tipo del documento:
Article