The aim of this study was to evaluate the expression of the TGFB1 gene encoding the TGF-β1 cytokine in 64 patients, and then to compare it with clinico-pathological features. The study also investigated whether the regulation of the gene expression is caused by methylation of the promoter region between - 235 and + 22 nucleotide from the start of transcription. The dependence of the relative level of the TGFB1 gene expression on the clinical advancement according to the TNM classifications was shown. Additionally, the individual grades of the T and M features of the TNM classification differed in the relative transcript levels of the TGFB1 gene. Moreover, the higher relative expression level of the studied gene was associated with a lack of vascular invasion by cancer cells and presence of lymphocytes in the neoplastic tissue. The obtained results may indicate a possible impact of the gene on the process of carcinogenesis in colorectal cancer and reduction of its expression level may be one of the factors contributing to progression of the disease.
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http://dx.doi.org/10.1038/s41598-022-15599-4 | DOI Listing |
Despite considerable advances in identifying risk factors for obesity development, there remains substantial gaps in our knowledge about its etiology. Variation in obesity (defined by BMI) is thought to be due in part to heritable factors; however, obesity-associated genetic variants only account for a small portion of heritability. Epigenetic regulation, defined by genetic and/or environmental factors with changes in gene expression, may account for some of this "missing heritability".
View Article and Find Full Text PDFInvest Ophthalmol Vis Sci
January 2025
Wilmer Eye Institute, Johns Hopkins Medical Institute, Baltimore, Maryland, United States.
Purpose: Although mechanical injury to the cornea (e.g. chronic eye rubbing) is a known risk factor for keratoconus progression, how it contributes to loss of corneal integrity is not known.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, 43400, Selangor, Malaysia.
Increasing shreds of evidence suggest that neurogenic-to-gliogenic shift may be critical to the abnormal neurodevelopment observed in individuals with Down syndrome (DS). REST, the Repressor Element-1 Silencing Transcription factor, regulates the differentiation and development of neural cells. Downregulation of REST may lead to defects in post-differentiation neuronal morphology in the brain of the DS fetal.
View Article and Find Full Text PDFHum Genet
January 2025
Department of Oto-Rhino-Laryngology, West China Hospital, Sichuan University, Chengdu, China.
The genetic relationship between migraine and stroke remains underexplored, particularly in the context of druggable targets. Previous studies have been limited by small sample sizes and a lack of focus on genetic-targeted therapies for these conditions. We analyzed the association and causality between migraine and stroke using multivariable logistic regression in the UK Biobank cohort and Mendelian randomization (MR) analyses based on genome-wide association study (GWAS) data.
View Article and Find Full Text PDFBMC Cancer
January 2025
Department of Tumor Biological Treatment, The Third Affiliated Hospital of Soochow University, Changzhou, Jiangsu, 213003, China.
Liver cancer, specifically hepatocellular carcinoma (HCC), stands out as one of the most formidable solid tumors, characterized by a dauntingly low survival rate. At the forefront of the tumor microenvironment (TME) orchestrating the initiation and advancement of HCC are cancer-associated fibroblasts (CAFs). TGF-β, widely recognized as a potent activator of CAFs, not only regulates their activity but also assumes a pivotal role in the metastatic journey of the tumor.
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