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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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
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author Kang, Byung Ho
Kim, So Youn
Park, Mun Suk
Yoon, Kyung Lim
Shim, Kye Shik
author_facet Kang, Byung Ho
Kim, So Youn
Park, Mun Suk
Yoon, Kyung Lim
Shim, Kye Shik
author_sort Kang, Byung Ho
collection PubMed
description 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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spelling pubmed-40270982014-06-05 Estrogen receptor α polymorphism in boys with constitutional delay of growth and puberty Kang, Byung Ho Kim, So Youn Park, Mun Suk Yoon, Kyung Lim Shim, Kye Shik Ann Pediatr Endocrinol Metab Original Article 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. The Korean Society of Pediatric Endocrinology 2013-06 2013-06-30 /pmc/articles/PMC4027098/ /pubmed/24904855 http://dx.doi.org/10.6065/apem.2013.18.2.71 Text en © 2013 Annals of Pediatric Endocrinology & Metabolism http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Kang, Byung Ho
Kim, So Youn
Park, Mun Suk
Yoon, Kyung Lim
Shim, Kye Shik
Estrogen receptor α polymorphism in boys with constitutional delay of growth and puberty
title Estrogen receptor α polymorphism in boys with constitutional delay of growth and puberty
title_full Estrogen receptor α polymorphism in boys with constitutional delay of growth and puberty
title_fullStr Estrogen receptor α polymorphism in boys with constitutional delay of growth and puberty
title_full_unstemmed Estrogen receptor α polymorphism in boys with constitutional delay of growth and puberty
title_short Estrogen receptor α polymorphism in boys with constitutional delay of growth and puberty
title_sort estrogen receptor α polymorphism in boys with constitutional delay of growth and puberty
topic Original Article
url 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
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