This study identifies 16 new genetic loci associated with plasma N-glycosylation in 10,000 individuals and links them to liver disease and inflammatory proteins.

Nature Communications · Jul 1, 2025Peer-reviewedGenetic & Genomic Medicine

Genetic variation at 11q23.1 confers colorectal cancer risk by dysregulation of colonic tuft cell transcriptional activator POU2AF2

Vidya Rajasekaran, Bradley T. Harris, Ruby Tamara Osborn, Claire L. Smillie, Kevin Donnelly, Marion Bacou, Edward Esiri-Bloom, Li Yin Ooi, Morven Allan, Marion Walker, Stuart Reid, Alison M. Meynert, Graeme R. Grimes, James Peter Blackmur, Peter G Vaughan-Shaw, , Susan Mary Farrington

This study identifies rs3087967 as the causal variant at 11q23.1 that increases colorectal cancer risk by dysregulating POU2AF2, a key activator of tuft cell transcription.

Gut · Nov 28, 2024Peer-reviewedGenetics

Combining Asian-European Genome-Wide Association Studies of Colorectal Cancer Improves Risk Prediction Across Race and Ethnicity

Minta Thomas, Yu‐Ru Su, Elisabeth A. Rosenthal, Lori C. Sakoda, Stephanie L. Schmit, Maria N Timofeeva, Zhishan Chen, Ceres Fernández–Rozadilla, Philip Law, Neil Murphy, Robert Carreras‐Torres, Virginia Díez‐Obrero, Fränzel JB van Duijnhoven, Shangqing Jiang, Aesun Shin, , Taiki Yamaji

This study improves polygenic risk scores for colorectal cancer by combining Asian and European ancestry data, enhancing risk prediction across diverse racial and ethnic groups.

medRxiv · Jan 19, 2023 · PreprintGenetic & Genomic Medicine

Exploring the association between Body Mass Index, Sex and Gene Expression in human colorectal epithelium

Lea Lemler, Kevin Donnelly, Ian P.M. Tomlinson, Maria N Timofeeva, Evropi Τheodoratou, C. Fernández Rozadilla, Juan J. Fernandez-Tajes, Graeme R. Grimes, Susan Mary Farrington, Malcolm G. Dunlop

The paper analyzes gene expression in normal colorectal mucosa to assess associations with BMI and sex, finding no significant associations after replication.

bioRxiv · Nov 21, 2022 · PreprintGenomics

Factors influencing patterns of gene expression in large bowel mucosa

Peter G Vaughan-Shaw, Li Yin Ooi, Maria N Timofeeva, Graeme R. Grimes, Farhat V. N. Din, Susan Mary Farrington, Malcolm G. Dunlop

This study identifies demographic and sampling factors affecting gene expression in normal colorectal mucosa, with age, gender, and sample site showing significant associations.

bioRxiv · Aug 30, 2022 · PreprintGenomics

Transcriptional dynamics of colorectal cancer risk associated variation at 11q23.1 are correlated with tuft cell abundance and marker expression in silico

Bradley T. Harris, Vidya Rajasekaran, James Peter Blackmur, Alan O’Callaghan, Kevin Donnelly, Maria N Timofeeva, Peter G Vaughan-Shaw, Farhat V. N. Din, Malcolm G. Dunlop, Susan Mary Farrington

The paper investigates the relationship between 11q23.1 eQTL targets and tuft cell abundance using scRNA-seq data, finding a correlation between gene expression and cluster-specific tuft cell markers.

bioRxiv · Mar 29, 2022 · PreprintBioinformatics

Oral Vitamin D supplementation induces transcriptomic changes in rectal mucosa that are consistent with anti-tumour effects.

Peter G Vaughan-Shaw, Graeme R. Grimes, James Peter Blackmur, Maria N Timofeeva, Marion Walker, Li Yin Ooi, Victoria Svinti, Kevin Donnelly, Farhat V N Din, Susan Mary Farrington, Malcolm G. Dunlop

This study shows oral vitamin D supplementation changes rectal mucosa gene expression patterns linked to anti-tumor effects, with blood biomarkers HIPK2 and PPP1CC identifying responders.

BMC Medicine · Aug 2, 2021Peer-reviewedGenetic & Genomic Medicine

Physical activity reduces colorectal cancer risk independent of BMI - A two-sample Mendelian randomisation study

Xiaomeng Zhang, Evropi Τheodoratou, Xue Li, Susan Mary Farrington, Philip Law, Peter Broderick, Marion Walker, Jessica M. B. Rees, Richard S. Houlston, Ian P.M. Tomlinson, Harry Campbell, Malcolm G. Dunlop, Maria N Timofeeva

bioRxiv · Oct 9, 2019 · PreprintGenetics