University of Barcelona and University of Virginia Genotyping and RNA Sequencing Project

Characterization of transcription in healthy colon mucosa

Joint Project of the Catalan Institute of Oncology-IDIBELL (Barcelona, Spain) and the University of Virginia (Virginia, USA).


BarcUVa-Seq is a public-health genomics study of gene expression in the human colon. The principle aim is to characterize regulation of transcription in superficial epithelial cells across different colon subsites. We measure effects of variables such as genotype, sex, colon subsite, lifestyle, and diet on the composition of healthy colon transcriptomes.


BarcUVa-Seq is a population-based, cross-sectional study of 485 adult volunteers found to have endoscopically healthy (i.e normal, without polyps or other lesions) colon. Transcriptomic profiles were measured with bulk RNA sequencing of total RNA from superficial mucosal biopsies collected at different subsites across the colon during colonoscopy. Genotypes were measured with the OncoArray 500K BeadChip using DNA from peripheral blood samples.


We find transcriptional differences between anatomic subsites in the colon. We also find genotype-transcription level associations at thousands of variants across the genome. Many of the transcription-associated variants co-localize with disease risk loci identified in genome-wide association studies of various diseases. The BarcUVa-Seq dataset is a valuable resource for researchers interested in colon-related phenotypes and other traits.


Dampier, C. H. et al. Oncogenic Features in Histologically Normal Mucosa: Novel Insights Into Field Effect From a Mega-Analysis of Colorectal Transcriptomes. Clin. Transl. Gastroenterol. 11, e00210 (2020).

Diez-Obrero, V. et al. Genetic effects on transcriptome profiles in colon epithelium provide functional insights for genetic risk loci. Cell Mol Gastroenterol Hepatol (2021) doi:10.1016/j.jcmgh.2021.02.003.

Research team

Graham Casey UVA -PI
Graham Casey
Victor Moreno ICO -PI
Victor Moreno
Virginia Díez-Obrero ICO
Virginia Díez
Chris H Dampier UVA
Chris H Dampier
Matthew Devall UVA
Matthew Devall
Sarah J Plummer UVA
Sarah J Plummer
Ferran Moratalla-Navarro ICO
Ferran Moratalla
Elisabet Guinó ICO
Elisabet Guinó
Mireia Obón-Santacana ICO
Mireia Obon
Anna Díez-Villanueva ICO
Anna Diez
Gemma Ibáñez-Sanz ICO
Gemma IbaC1ez
Robert Carreras-Torres ICO
Robert Carreras


This is a joint project of

Catalan Institute of Oncology Barcelona, Spain
University of Virginia (UVA) VA, USA


In addition to ICO and UVA, this project has received support from:

IDIBELL Barcelona, Spain
University of Barcelona Barcelona, Spain
CIBER Madrid, Spain
AECC Madrid, Spain
ISCIII Madrid, Spain