Association of Polymorphisms in the Vitamin D Receptor Promoter with Idiopathic Short Stature

作者:Choi Seo Kyung; Park Mun Suk; Song Jun Kyu; Yoon Kyung Sik; Yoon Kyung Lim; Shim Kye Shik*
来源:Journal of Korean Medical Science, 2013, 28(9): 1329-1333.
DOI:10.3346/jkms.2013.28.9.1329

摘要

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.

  • 出版日期2013-9