Largest public database on genetic variants that regulate colonic gene expression

A collaboration between Catalan and American researchers has resulted in the largest public databank known to date on data about gene expression and colonic genetic variants. This database, which gathers the analysis of more than 400 biopsies of healthy colons, results from a study led by the experts from the Oncology Data Analytics Program of the Catalan Institute of Oncology (ICO), the IDIBELL Colorectal Cancer Analysis Program, the University of Barcelona and the Epidemiology and Public Health Networking Biomedical Research Centre (CIBERESP), in collaboration with the research group led by Graham Casey, from the Centre for Public Health Genomics of the University of Virginia (United States). The results of the study were published in the journal Cellular and Molecular Gastroenterology and Hepatology, an article led by Víctor Moreno (ICO-IDIBELL-UB-CIBERSP).

Identifying levels of gene expression in healthy tissues is essential to understand why there are genetic variants related to diseases, such as cancer. In this sense, the “University of Barcelona and University of Virginia genotyping and RNA sequencing project” (BarcUBa-Seq) has developed an interactive tool that provides the obtained information publicly, so that the data of the study on colon genetic expression and associations with genetic variants can be easily used. Specifically, the database will enable people to make hypotheses, understand the function of genetic markers which are already linked to the risk of suffering from a disease and whose molecular mechanisms are already known, and prioritize genes and genetic variants on which researchers need to focus in the future.

Moreover, thanks to the analysed biopsies in the study, researchers identified genetic variants that regulate the expression of genes involved in colon diseases, such as colorectal cancer and inflammatory diseases, but also other organs such as the brain, which shows how linked it is to the intestine. For instance, experts observed that part of schizophrenia-related genetic markers would be regulating genes in the colon. In addition, the study suggests there are new genes to be likely linked to these diseases.

An innovative Project: BarcUBa-Seq

This study results from the collaboration with researchers from the United States with the aim to create an epidemiological database to understand the biology of the colonic epithelial cells (origin of colorectal cancer) and its links to genetic and environmental factors.

Specifically, the BarcUBa-Seq project includes data from 485 volunteers from the Southern metropolitan area, gathered in the University Bellvitge Hospital and Hospital de Viladecans with no injuries in the colon. Data were collected over the last years during a routine screening colonoscopy. In fact, the high sampling size and homogeneity in recollecting the samples are an added value to this research, since there is no other study published to date with such features.

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