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Association of Polymorphisms in the Vitamin D Receptor Promoter with Idiopathic Short Stature
The genetic alterations of vitamin D receptor (VDR) are related with the growth of long bone. There were a lot of reports regarding an association of polymorphisms in the VDR promoter with many disorders, but not with idiopathic short stature (ISS). We investigated the association of them with ISS....
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Academy of Medical Sciences
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3763107/ https://www.ncbi.nlm.nih.gov/pubmed/24015038 http://dx.doi.org/10.3346/jkms.2013.28.9.1329 |
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author | Choi, Seo Kyung Park, Mun Suk Song, Jun Kyu Yoon, Kyung Sik Yoon, Kyung Lim Shim, Kye Shik |
author_facet | Choi, Seo Kyung Park, Mun Suk Song, Jun Kyu Yoon, Kyung Sik Yoon, Kyung Lim Shim, Kye Shik |
author_sort | Choi, Seo Kyung |
collection | PubMed |
description | The genetic alterations of vitamin D receptor (VDR) are related with the growth of long bone. There were a lot of reports regarding an association of polymorphisms in the VDR promoter with many disorders, but not with idiopathic short stature (ISS). We investigated the association of them with ISS. A total of 50 subjects, including 29 ISS patients and 21 healthy controls with their heights within the normal range was recruited. We selected two single nucleotide polymorphisms (SNPs) from VDR promoter (rs11568820 at the Cdx-2 binding site upstream of exon 1e and rs4516035 at -1012 upstream of exon 1a) as candidates, respectively. In genotype analysis, the frequency of A/A genotype at the Cdx-2 binding site locus (rs11568820) upstream of exon 1e of VDR was decreased to 6.9% in ISS patients (28.6% in controls) (P = 0.027). The genetic variation at the Cdx-2 binding site of VDR promoter can be a contributing factor of growth of height. |
format | Online Article Text |
id | pubmed-3763107 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | The Korean Academy of Medical Sciences |
record_format | MEDLINE/PubMed |
spelling | pubmed-37631072013-09-06 Association of Polymorphisms in the Vitamin D Receptor Promoter with Idiopathic Short Stature Choi, Seo Kyung Park, Mun Suk Song, Jun Kyu Yoon, Kyung Sik Yoon, Kyung Lim Shim, Kye Shik J Korean Med Sci Original Article The genetic alterations of vitamin D receptor (VDR) are related with the growth of long bone. There were a lot of reports regarding an association of polymorphisms in the VDR promoter with many disorders, but not with idiopathic short stature (ISS). We investigated the association of them with ISS. A total of 50 subjects, including 29 ISS patients and 21 healthy controls with their heights within the normal range was recruited. We selected two single nucleotide polymorphisms (SNPs) from VDR promoter (rs11568820 at the Cdx-2 binding site upstream of exon 1e and rs4516035 at -1012 upstream of exon 1a) as candidates, respectively. In genotype analysis, the frequency of A/A genotype at the Cdx-2 binding site locus (rs11568820) upstream of exon 1e of VDR was decreased to 6.9% in ISS patients (28.6% in controls) (P = 0.027). The genetic variation at the Cdx-2 binding site of VDR promoter can be a contributing factor of growth of height. The Korean Academy of Medical Sciences 2013-09 2013-08-28 /pmc/articles/PMC3763107/ /pubmed/24015038 http://dx.doi.org/10.3346/jkms.2013.28.9.1329 Text en © 2013 The Korean Academy of Medical Sciences. 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 Choi, Seo Kyung Park, Mun Suk Song, Jun Kyu Yoon, Kyung Sik Yoon, Kyung Lim Shim, Kye Shik Association of Polymorphisms in the Vitamin D Receptor Promoter with Idiopathic Short Stature |
title | Association of Polymorphisms in the Vitamin D Receptor Promoter with Idiopathic Short Stature |
title_full | Association of Polymorphisms in the Vitamin D Receptor Promoter with Idiopathic Short Stature |
title_fullStr | Association of Polymorphisms in the Vitamin D Receptor Promoter with Idiopathic Short Stature |
title_full_unstemmed | Association of Polymorphisms in the Vitamin D Receptor Promoter with Idiopathic Short Stature |
title_short | Association of Polymorphisms in the Vitamin D Receptor Promoter with Idiopathic Short Stature |
title_sort | association of polymorphisms in the vitamin d receptor promoter with idiopathic short stature |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3763107/ https://www.ncbi.nlm.nih.gov/pubmed/24015038 http://dx.doi.org/10.3346/jkms.2013.28.9.1329 |
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