Genetic & Genomic MedicinemedRxivPreprint
Genetic Variation at 19q13.33 confers colorectal cancer risk through the interaction of mucosal expression of FUT2 and plasma vitamin B12 levels
DOI 10.64898/2026.07.10.26357741
Author
Susan Mary Farrington
Edinburgh Cancer ResearchORCID 0000-0001-5955-7389Unclaimed ORCID profile · follow to get notified of new preprints
Biology Disciplines
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2019-2026 · peak 3/yrCo-Author Collaboration Network
10 top collaborators · 45 mutual co-author linksFocal author (center)Selected co-authorORCID co-authorUnlinked name
Curved chords = mutual co-authorship9 papers
Recent·Most cited
- GeneticsGutPeer-reviewed
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…·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.
- Genetic & Genomic MedicinemedRxivPreprint
Mismatch repair gene specifications to the ACMG/AMP classification criteria: Consensus recommendations from the InSiGHT ClinGen Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel
John‐Paul Plazzer, Finlay Macrae, Xiaoyu Yin…·Andreas Laner
The paper specifies MMR gene-specific criteria to the ACMG/AMP classification system, reclassifying some variants and providing a framework for improved pathogenicity assessment.
- GenomicsbioRxivPreprint
Exploring the association between Body Mass Index, Sex and Gene Expression in human colorectal epithelium
Lea Lemler, Kevin Donnelly, Ian P.M. Tomlinson…·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.
DOI 10.1101/2022.11.21.515057 - GenomicsbioRxivPreprint
Factors influencing patterns of gene expression in large bowel mucosa
Peter G Vaughan-Shaw, Li Yin Ooi, Maria N Timofeeva…·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.
1 citation - BioinformaticsbioRxivPreprint
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…·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.
- Genetic & Genomic MedicineBMC MedicinePeer-reviewed
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…·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.
10 citations - GeneticsbioRxivPreprint
Physical activity reduces colorectal cancer risk independent of BMI - A two-sample Mendelian randomisation study
Xiaomeng Zhang, Evropi Τheodoratou, Xue Li…·Maria N Timofeeva
DOI 10.1101/798470 - GeneticsHuman Molecular GeneticsPeer-reviewed
Defining the genetic control of human blood plasma N-glycome using genome-wide association study
Sodbo Sharapov, Yakov A. Tsepilov, Lucija Klarić…·Yurii S. Aulchenko
This study identifies twelve genetic loci associated with human blood plasma N-glycome composition through genome-wide association analysis, revealing both direct and indirect genetic influences on glycosylation.
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