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. 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.

Erratum: Correction of Nomenclature of Mutations

In the abstract, case description and figure 2, the nomenclature of two mutations was misprinted because of misreading the cDNA nucleotide sequences.

Novel Compound Heterozygous Mutations in the Vitamin D Receptor Gene in a Korean Girl with Hereditary Vitamin D Resistant Rickets

Hereditary vitamin D resistant rickets (HVDRR) is a rare genetic disorder caused by a mutation of vitamin D receptor (VDR) gene. A number of cases had been reported in many countries but not in Korea. We examined a three-year old Korean girl who had the typical clinical features of HVDRR including rickets, hypocalcemia, hypophosphatemia, elevated serum calcitriol level and secondary hyperparathyroidism. The girl and her father were both heterozygous for the 719 C-to-T (I146T) mutation in exon 4, whereas she and her mother were both heterozygous for 754 C-to-T (R154C) mutation in exon 5 of the VDR gene. In this familial study, we concluded that the girl had compound heterozygous mutations in her VDR gene which caused HVDRR. This is the first report of a unique mutation in the VDR gene in Korea.

The Influence of Propofol Concentration on the Generation of Reactive Oxygen Species after Reoxygenation in Rat Embryonic Heart H9c2 Cell / 대한마취과학회지

BACKGROUND: Reoxygenation of an ischemic heart causes a decrease in the cardiac function, which is known as reperfusion injury that is associated with an increase in the concentration of reactive oxygen species (ROS). This study examined the effect of the propofol concentration on the generation of ROS during reoxygenation in rat embryonic heart H9c2 cells. METHODS: Cultured H9c2 cells were examined in the following sequences: Prehypoxic, Hypoxic and Reoxygenation period. Each period required 60 minutes. The cells were exposed to propofol at the beginning of the prehypoxic period. Thirty minutes later, DCFH-DA (dichlorofluorescin diacetate) 10 micrometer was added to detect the ROS. The propofol concentrations used were 0, 5, 25, 50, 250 micrometer in the first experiment and 0, 1, 2, 3, 4, 5 micrometer in the second experiment. The ROS level was estimated using a fluorometer at 5-minute intervals from 5 to 60 minutes after reoxygenation. RESULTS: When the propofol concentrations was > 5 micrometer, the ROS levels were significantly lower than those of the untreated group (P0) (P 5 micrometer inhibited ROS production over the whole period, and even 1micrometer showed some inhibition of ROS.