title: Association of polymorphisms in the vitamin D receptor promoter with idiopathic short stature.
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.
authors.affiliation: Department of Pediatrics, Kyung Hee University School of Medicine, Seoul, Korea.
authors.forename: Seo Kyung
authors.initials: SK
authors.lastname: Choi
authors.forename: Mun Suk
authors.initials: MS
authors.lastname: Park
authors.forename: Jun Kyu
authors.initials: JK
authors.lastname: Song
authors.forename: Kyung Sik
authors.initials: KS
authors.lastname: Yoon
authors.forename: Kyung Lim
authors.initials: KL
authors.lastname: Yoon
authors.forename: Kye Shik
authors.initials: KS
authors.lastname: Shim
mesh_terms: D000293:Adolescent; D000483:Alleles; D001665:Binding Sites; D000071616:CDX2 Transcription Factor; D002648:Child; D004392:Dwarfism / Q000235:genetics*; D005091:Exons; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D018398:Homeodomain Proteins / Q000378:metabolism; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics*
chemical_list: D000071616:CDX2 Transcription Factor; C491270:CDX2 protein, human; D018398:Homeodomain Proteins; D018167:Receptors, Calcitriol
keywords: Polymorphism, Genetic; Short Stature, Idiopathic; Vitamin D Receptor Promoter