Association between genetic variations of the transforming growth factor beta receptor type III and asthma in a Korean population

Transforming growth factor-beta (TGF-beta) and its receptors have been suggested to play key roles in the pathogenesis of asthma. The aim of this study was to evaluate the effects of genetic variations in the TGF-beta receptor type III (TGFBR3) on asthma and on its related phenotypes in the general population. A cohort of 2,118 subjects aged from 10 to 18 years responded to a questionnaire concerning asthma symptoms and risk factors. Methacholine airway hyperresponsiveness (AHR), skin test responses to common aeroallergens, and serum total IgE levels were evaluated in the cohort. A total of 19 SNPs for TGFBR3 were found using direct re-sequencing in 24 healthy adults. Of these, informative SNPs [+44T>C (S15F) and +2753G>A at 3'UTR] were selected and scored using the high throughput single base extension method. Atopy was identified in subjects with 44T>C allele [P = 0.04, OR (95% CI) = 0.79 (0.62-0.99)] and in subjects with Ht1 (CG) more frequently than in subjects with other haplotypes [P = 0.04, OR (95% CI) = 1.27 (1.01-1.59)]. The A allele in 2753G>A was more common in subjects with non-atopic asthma [OR (95% CI) = 1.76 (1.01-3.05)]. A significant association was found between non-atopic asthma and 44T_2753A [OR (95% CI) = 2.16 (1.22-3.82)]. Genetic variations in TGFBR3 appear to be associated with a genetic predisposition to development of asthma and to phenotypes of asthma. Also, the minor allele 2753G and the haplotype TA in the TGFBR3 gene were associated with a pathogenesis of non-atopic asthma.

[Analysis of gene and protein expression of opticin in human cancer cell lines]

Opticin, as a member of small leucine rich proteoglycans [SLRPs], mainly expressed in human eyes. It is also expressed in human brain, ligament, liver and skin, but at lower levels than the eyes. In the present study, expression of opticin was studied in a variety of human cancer cell lines. In this basic study, human cancer cell lines including, A-172 [brain cancer], T47D [mammary gland carcinoma], Paca-2 [pancreas carcinoma], Ej-138 [bladder carcinoma], Calu6 [lung carcinoma], ACHN [kidney cancer], SKOV3 [ovarian cancer], LS-180 [colon carcinoma], A-375 [skin cancer], PC3 [prostate adenocarcinoma], CLL-CII [chronic lymphocytic leukemia] were cultured under standard conditions. Opticin expression in the cell lines was detected by RT-PCR and Western blot. All cancer cell lines, except A-172, expressed opticin at both mRNA and protein levels. In the current study, human cancer cell lines were shown to express opticin whereas previous studies did not detect opticin in normal tissues. This finding may represent opticin as a novel tumor marker in a wide variety of cancers and future studies can be performed to evaluate function of this protein in carcinogenesis

Overexpression of SOX9 in mouse embryonic stem cells directs the immediate chondrogenic commitment

Mouse embryonic stem (mES) cells are capable of undergoing chondrogenesis in vitro. To enhance this process, the human SOX9 (hSOX9) cDNA was delivered into mES cells and the clones overexpressing hSOX9 (denoted as mES-hSOX9 cells) were verified by Western blot analysis. The transcripts of collagen IIA (a juvenile form), aggrecan and Pax1 were expressed in mES-hSOX9 cells grown on feeder layers, suggesting the immediate effect of exogenous SOX9 on chondrogenesis. However, SOX9 overexpression did not affect the cell cycle distribution in undifferentiated mES cells. Upon differentiation, collagen IIB (an adult form) was detected in day 3 immature embryoid bodies. In addition, the overexpression of exogenous SOX9 significantly induced transcriptional activity driven by SOX9 binding site. Taken together, we for the first time demonstrated that constitutive overexpression of exogenous SOX9 in undifferentiated mES cells might have dual potentials to induce both chondrogenic commitment and growth capacity in the undifferentiated status.