Publications by authors named "P Vaughan-Shaw"
Article Synopsis
- Common genetic variation at the 11q23.1 locus is linked to colorectal cancer risk, complicating the understanding of its mechanisms due to complex gene interactions and expression patterns.
- The study utilizes various sequencing methods and mouse models to identify key genes, especially highlighting rs3087967 as a crucial variant that influences the expression of 21 genes associated with tuft cell markers.
- The findings suggest that the risk genotype at rs3087967 leads to a deficiency in tuft cells, which are important for tumor suppression, positioning these cells as protective elements in colorectal cancer development.
Background: There is no consensus on optimal management of pilonidal disease. Surgical practice is varied, and existing literature is mainly single-centre cohort studies of varied disease severity, interventions and outcome assessments.
Objectives: A prospective cohort study to determine: • disease severity and intervention relationship • most valued outcomes and treatment preference by patients • recommendations for policy and future research.
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 unknown. We sought to fine-map all known CRC risk loci using GWAS data from 100,204 cases and 154,587 controls of East Asian and European ancestry. Our stepwise conditional analyses revealed 238 independent association signals of CRC risk, each with a set of credible causal variants (CCVs), of which 28 signals had a single CCV.
View Article and Find Full Text PDFArticle Synopsis
- The study aimed to explore how levels of circulating 25-hydroxyvitamin D (25-OHD) relate to survival outcomes in colorectal cancer (CRC) patients.
- Analyses were conducted using data from the Study of Colorectal Cancer in Scotland (SOCCS) and the UK Biobank, where patients with lower 25-OHD levels had significantly poorer cancer-specific and overall survival compared to those with higher levels.
- However, the research did not find a causal relationship between 25-OHD levels and survival outcomes, indicating that while lower levels correlate with worse survival, they may not directly cause it.