J Korean Med Sci.  2013 Sep;28(9):1329-1333. 10.3346/jkms.2013.28.9.1329.

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

• Choi SK
• Park MS
• Song JK
• Yoon KS
• Yoon KL
• Shim KS

• KMID: 1793048
• DOI: http://doi.org/10.3346/jkms.2013.28.9.1329

Abstract

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.

Keyword

Vitamin D Receptor Promoter; Polymorphism, Genetic; Short Stature, Idiopathic

MeSH Terms

Adolescent
Alleles
Binding Sites
Child
Dwarfism/*genetics
Exons
Female
Gene Frequency
Genotype
Homeodomain Proteins/metabolism
Humans
Male
*Polymorphism, Single Nucleotide
Promoter Regions, Genetic
Receptors, Calcitriol/*genetics
Homeodomain Proteins
Receptors, Calcitriol

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