Estrogen receptor α polymorphism in boys with constitutional delay of growth and puberty

PURPOSE: There were a lot of reports regarding associations of polymorphisms in the estrogen receptor α (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 2...

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Detalles Bibliográficos
Autores principales: Kang, Byung Ho, Kim, So Youn, Park, Mun Suk, Yoon, Kyung Lim, Shim, Kye Shik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Pediatric Endocrinology 2013
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4027098/
https://www.ncbi.nlm.nih.gov/pubmed/24904855
http://dx.doi.org/10.6065/apem.2013.18.2.71
Descripción
Sumario:PURPOSE: There were a lot of reports regarding associations of polymorphisms in the estrogen receptor α (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.

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