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1.
Artículo en Inglés | WPRIM | ID: wpr-93418

RESUMEN

The early growth response gene 2 (EGR2) is located at chromosome 10q21, one of the susceptibility loci in bipolar disorder (BD). EGR2 is involved in cognitive function, myelination, and signal transduction related to neuregulin-ErbB receptor, Bcl-2 family proteins, and brain-derived neurotrophic factor. This study investigated the genetic association of the EGR2 gene with BD and schizophrenia (SPR) in Korea. In 946 subjects (350 healthy controls, 352 patients with BD, and 244 with SPR), nine single nucleotide polymorphisms (SNPs) in the EGR2 gene region were genotyped. Five SNPs showed nominally significant allelic associations with BD (rs2295814, rs61865882, rs10995315, rs2297488, and rs2297489), and the positive associations of all except rs2297488 remained significant after multiple testing correction. Linkage disequilibrium structure analysis revealed two haplotype blocks. Among the common identified haplotypes (frequency > 5%), 'T-G-A-C-T (block 1)' and 'A-A-G-C (block 2)' haplotypes were over-represented, while 'C-G-G-T-T (block 1)' haplotype was under-represented in BD. In contrast, no significant associations were found with SPR. Although an extended analysis with a larger sample size or independent replication is required, these findings suggest a genetic association of EGR2 with BD. Combined with a plausible biological function of EGR2, the EGR2 gene is a possible susceptibility gene in BD.


Asunto(s)
Adulto , Femenino , Humanos , Masculino , Trastorno Bipolar/genética , Proteína 2 de la Respuesta de Crecimiento Precoz/genética , Predisposición Genética a la Enfermedad/genética , Genotipo , Haplotipos/genética , Corea (Geográfico) , Desequilibrio de Ligamiento/genética , Polimorfismo de Nucleótido Simple/genética , Esquizofrenia/genética
2.
Chinese Journal of Dermatology ; (12): 556-559, 2009.
Artículo en Chino | WPRIM | ID: wpr-393524

RESUMEN

Objective To explore the role of Epstein-Barr virus (EBV) infection in the etiology of drug eruption. Methods PCR-Southern blot was used to detect EBV-specific DNA fragment BamH I -W in peripheral blood mononuclear cells of 32 patients with drug eruption and 30 age- and sex-matched normal controls. The mRNA expression of EBV lyric gene BZLF1 in EBV DNA-positive samples was measured by RT-PCR and Southern blot. ELISA was performed to detect EBV virus capsule antigen (VCA)-specific IgM. Results The positivity rate of EBV DNA was significantly higher in patients with drug eruption than in normal controls (78.13% (25/32) vs 10.00% (3/30), P < 0.01), while no significant difference was noted between patients with severe and mild drug eruption (P > 0.05). The expression of BZLF1 mRNA was detected in 3 out of 25 EBV DNA-positive patients; of the 3 patients, 1 suffered from mild drug eruption, and 2 from severe drug eruption. EBV VCA-specific IgM was observed in 6 of 32 patients with drug eruption, but not in any normal controls. No significant difference in the positivity rate of EBV VCA-specific lgM existed between patients with severe and mild drug eruption (P > 0.05). Conclusions There is an active infection of EBV in patients with drug eruption. EBV infection is probably an environmental factor affecting the development of drug eruption.

3.
Artículo en Chino | WPRIM | ID: wpr-526107

RESUMEN

Objective To investigate the changes in the expression of Egr-1, C-jun and IL-1? mRNA and protein in the lung injured by mechanical ventilation. Methods Forty male SD rats weighing 250-320 g were randomly divided into 5 groups (n = 8 each): group A received no mechanical ventilation; group B-E received mechanical ventilaion for 30 (B), 60 (C), 90 (D) and 120 (E) minutes. The animals were anesthetized with intraperitoneal 3% pentobarbital 35 mg?kg-1 , tracheostomized and mechnically ventilated (VT =42 ml?kg-1 , RR = 40 bpm, I: E = 1:2, FiO2 = 21 % ) . Arterial blood samples were taken for blood gas analysis. The animals were killed at the end of mechanical ventilation in group B-E and after tracheostomy in group A. The lungs were removed for microscopic examination using HE staining. The expression of Egr-1, C-jun and IL-1? mRNA and protein was detected by RT-PCR and immuno-histochemical technique respectively. Results There was no significant difference in PaO2 and SaO2 among the 5 groups while PaCO2 was significantly decreased in group B and C but increased in group E as compared with group A. The expression of Egr-1, C-jun and IL-1? mRNA and protein was significantly increased by mechanical ventilation in a duration - dependent manner. Histological studies demonstrated that the damage to the lung was correlated with the duration of mechanical ventilation in terms of perivascular inflammatouy cell infiltration, exudates and hemorrhage in the alveoli and thickening of alveolar walls. Conclusion The results of our study show that mechanical ventilation activates and upregulates the expression of the early response genes in a duration - dependent manner. The upregulation of the expression of these genes might be involved in the underlying mechanism of lung damage induced by mechanical ventilation.

4.
Artículo en Chino | WPRIM | ID: wpr-524917

RESUMEN

AIM: To study the effect of ouabain at different concentrations on human vascular endothelial cells (HUVEC), and early endothelial responses to ouabain in physiological concentration by genomic-scale gene expression analysis. METHODS: The proliferation of HUVEC was determined by MTT method. The vitality of cells was determined by LDH, and PCNA was assessed by using immunohistochemistry. The response of endothelial cells to ouabain was explored with a complementary DNA microarray representing ~8 464 different human genes. RESULTS: Ouabain stimulated the proliferation of HUVEC at physiological concentration (0.3-0.9 nmol/L). Ouabain at pathological concentration (0.9-1.8 nmol/L) inhibited proliferation and induced cellular swelling and apoptosis. However, the effect of ouabain at the concentration of 10 nmol/L also stimulated proliferation. The results of mRNA profiles analysis indicated that 340 of genes were differentially expressed, among them 145 were upregulated and 6 were upregulated significantly. The upregulated genes were mainly related to cellular metabolism and gene transcription. CONCLUSIONS: Ouabain has important role in controlling the growth and metabolism of vascular endothelial cell and vascular remodeling in the pathogenesis of hypertension.

5.
Artículo en Chino | WPRIM | ID: wpr-673817

RESUMEN

Egr-1 is an important transcription factor, which regulates at least 30 kinds of gene expression. Egr-1 couples extracellular signals to long-term responses by altering expression of Egr-1 target genes. So egr-1 can directly or indirectly affect cell differentiation,apoptosis,immune response,injury and repair. This article reviewed the progress in Egr-1 and the lung disease.

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