Estrogen receptor alpha polymorphism in boys with constitutional delay of growth and puberty
Annals of Pediatric Endocrinology & Metabolism
;
: 71-75, 2013.
Artigo
em Inglês
| WPRIM
| ID: wpr-133878
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Valores de Referência
/
Variação Genética
/
Íntrons
/
Puberdade
/
Polimorfismo de Nucleotídeo Único
/
Óxidos N-Cíclicos
/
Receptor alfa de Estrogênio
/
Estrogênios
/
Genótipo
Limite:
Humanos
Idioma:
Inglês
Revista:
Annals of Pediatric Endocrinology & Metabolism
Ano de publicação:
2013
Tipo de documento:
Artigo
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