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Genetic predisposition to mosaic Y chromosome loss in blood

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  1. Article

    Open Access

    Circulating 25-hydroxyvitamin D and survival outcomes of colorectal cancer: evidence from population-based prospective cohorts and Mendelian randomisation

    To investigate the association between circulating 25-hydroxyvitamin D (25-OHD) and colorectal cancer (CRC) survival outcomes.

    **aomeng Zhang, Yazhou He, Xue Li, Rasha Shraim, Wei Xu in British Journal of Cancer (2024)

  2. Article

    Open Access

    Fine-map** analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes

    Genome-wide association studies (GWAS) have identified more than 200 common genetic variants independently associated with colorectal cancer (CRC) risk, but the causal variants and target genes are mostly unkn...

    Zhishan Chen, **ngyi Guo, Ran Tao, Jeroen R. Huyghe, Philip J. Law in Nature Communications (2024)

  3. Article

    Open Access

    Altered DNA methylation within DNMT3A, AHRR, LTA/TNF loci mediates the effect of smoking on inflammatory bowel disease

    This work aims to investigate how smoking exerts effect on the development of inflammatory bowel disease (IBD). A prospective cohort study and a Mendelian randomization study are first conducted to evaluate th...

    Han Zhang, Rahul Kalla, Jie Chen, Jianhui Zhao, Xuan Zhou in Nature Communications (2024)

  4. Article

    Open Access

    Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations

    Polygenic risk scores (PRS) have great potential to guide precision colorectal cancer (CRC) prevention by identifying those at higher risk to undertake targeted screening. However, current PRS using European a...

    Minta Thomas, Yu-Ru Su, Elisabeth A. Rosenthal, Lori C. Sakoda in Nature Communications (2023)

  5. Article

    Open Access

    Dissecting the pathogenic effects of smoking and its hallmarks in blood DNA methylation on colorectal cancer risk

    Tobacco smoking is suggested as a risk factor for colorectal cancer (CRC), but the complex relationship and the potential pathway are not fully understood.

    Xuan Zhou, Qian **ao, Fangyuan Jiang, **g Sun, Lijuan Wang in British Journal of Cancer (2023)

  6. Article

    Open Access

    Identification of novel protein biomarkers and drug targets for colorectal cancer by integrating human plasma proteome with genome

    The proteome is a major source of therapeutic targets. We conducted a proteome-wide Mendelian randomization (MR) study to identify candidate protein markers and therapeutic targets for colorectal cancer (CRC).

    **g Sun, Jianhui Zhao, Fangyuan Jiang, Lijuan Wang, Qian **ao in Genome Medicine (2023)

  7. Article

    Open Access

    Genetic risk scores may compound rather than solve the issue of prostate cancer overdiagnosis

    Rachel H. Horton, Malcolm G. Dunlop, Richard S. Houlston in British Journal of Cancer (2023)

  8. Article

    Open Access

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

    Colorectal cancer (CRC) is characterised by heritable risk that is not well understood. Heritable, genetic variation at 11q23.1 is associated with increased colorectal cancer (CRC) risk, demonstrating eQTL eff...

    Bradley T. Harris, Vidya Rajasekaran, James P. Blackmur in Scientific Reports (2022)

  9. Article

    Open Access

    RNA splicing is a key mediator of tumour cell plasticity and a therapeutic vulnerability in colorectal cancer

    Tumour cell plasticity is a major barrier to the efficacy of targeted cancer therapies but the mechanisms that mediate it are poorly understood. Here, we identify dysregulated RNA splicing as a key driver of t...

    Adam E. Hall, Sebastian Öther-Gee Pohl, Patrizia Cammareri in Nature Communications (2022)

  10. Article

    Open Access

    Phenome-wide association study (PheWAS) of colorectal cancer risk SNP effects on health outcomes in UK Biobank

    Associations between colorectal cancer (CRC) and other health outcomes have been reported, but these may be subject to biases, or due to limitations of observational studies.

    **aomeng Zhang, Xue Li, Yazhou He, Philip J. Law in British Journal of Cancer (2022)

  11. Article

    Open Access

    Genetically predicted physical activity levels are associated with lower colorectal cancer risk: a Mendelian randomisation study

    We conducted a Mendelian randomisation (MR) study to investigate whether physical activity (PA) causes a reduction of colorectal cancer risk and to understand the contributions of effects mediated through chan...

    **aomeng Zhang, Evropi Theodoratou, Xue Li in British Journal of Cancer (2021)

  12. Article

    Open Access

    The effect of vitamin D supplementation on survival in patients with colorectal cancer: systematic review and meta-analysis of randomised controlled trials

    Low circulating vitamin D levels are associated with poor colorectal cancer (CRC) survival. We assess whether vitamin D supplementation improves CRC survival outcomes.

    Peter G. Vaughan-Shaw, Louis F. Buijs, James P. Blackmur in British Journal of Cancer (2020)

  13. Article

    Open Access

    Risk factors and risk prediction models for colorectal cancer metastasis and recurrence: an umbrella review of systematic reviews and meta-analyses of observational studies

    There is a clear need for systematic appraisal of models/factors predicting colorectal cancer (CRC) metastasis and recurrence because clinical decisions about adjuvant treatment are taken on the basis of such ...

    Wei Xu, Yazhou He, Yuming Wang, Xue Li, Jane Young, John P. A. Ioannidis in BMC Medicine (2020)

  14. Article

    Open Access

    Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP

    We aimed to develop an efficient, flexible and scalable approach to diagnostic genome-wide sequence analysis of genetically heterogeneous clinical presentations. Here we present G2P (www.ebi.ac...

    Anja Thormann, Mihail Halachev, William McLaren, David J. Moore in Nature Communications (2019)

  15. Article

    Open Access

    Association analyses identify 31 new risk loci for colorectal cancer susceptibility

    Colorectal cancer (CRC) is a leading cause of cancer-related death worldwide, and has a strong heritable basis. We report a genome-wide association analysis of 34,627 CRC cases and 71,379 controls of European ...

    Philip J. Law, Maria Timofeeva, Ceres Fernandez-Rozadilla in Nature Communications (2019)

  16. Article

    Open Access

    Genome-wide scan of the effect of common nsSNPs on colorectal cancer survival outcome

    We conducted a genome-wide scan to identify non-synonymous SNPs (nsSNPs) that might influence survival after a diagnosis of colorectal cancer (CRC).

    Evropi Theodoratou, Susan M Farrington, Maria Timofeeva in British Journal of Cancer (2018)

  17. Article

    Open Access

    Exploring causality in the association between circulating 25-hydroxyvitamin D and colorectal cancer risk: a large Mendelian randomisation study

    Whilst observational studies establish that lower plasma 25-hydroxyvitamin D (25-OHD) levels are associated with higher risk of colorectal cancer (CRC), establishing causality has proven challenging. Since vit...

    Yazhou He, Maria Timofeeva, Susan M. Farrington, Peter Vaughan-Shaw in BMC Medicine (2018)

  18. Article

    Open Access

    Plasma N-glycans in colorectal cancer risk

    Aberrant glycosylation has been associated with a number of diseases including cancer. Our aim was to elucidate changes in whole plasma N-glycosylation between colorectal cancer (CRC) cases and controls in one of...

    Margaret Doherty, Evropi Theodoratou, Ian Walsh, Barbara Adamczyk in Scientific Reports (2018)

  19. Article

    Open Access

    Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels

    Vitamin D is a steroid hormone precursor that is associated with a range of human traits and diseases. Previous GWAS of serum 25-hydroxyvitamin D concentrations have identified four genome-wide significant loci (

    **a Jiang, Paul F. O’Reilly, Hugues Aschard, Yi-Hsiang Hsu in Nature Communications (2018)

  20. Article

    Open Access

    Erratum: Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia

    Stephanie A Schubert, Dina Ruano, Fadwa A Elsayed, Arnoud Boot in British Journal of Cancer (2018)

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