Diagenode

Systematic prioritization of functional variants and effector genes underlying colorectal cancer risk


Law P.J. et al.

Genome-wide association studies of colorectal cancer (CRC) have identified 170 autosomal risk loci. However, for most of these, the functional variants and their target genes are unknown. Here, we perform statistical fine-mapping incorporating tissue-specific epigenetic annotations and massively parallel reporter assays to systematically prioritize functional variants for each CRC risk locus. We identify plausible causal variants for the 170 risk loci, with a single variant for 40. We link these variants to 208 target genes by analyzing colon-specific quantitative trait loci and implementing the activity-by-contact model, which integrates epigenomic features and Micro-C data, to predict enhancer–gene connections. By deciphering CRC risk loci, we identify direct links between risk variants and target genes, providing further insight into the molecular basis of CRC susceptibility and highlighting potential pharmaceutical targets for prevention and treatment.

Tags
Antibody

Share this article

Published
September, 2024

Source

Products used in this publication

  • cut and tag antibody icon
    C15410194
    H3K4me1 Antibody
  • cut and tag antibody icon
    C15410003-50
    H3K4me3 Antibody
  • cut and tag antibody icon
    C15410196
    H3K27ac Antibody
  • cut and tag antibody icon
    C15410195
    H3K27me3 Antibody
  • ChIP-seq Grade
    C15410192
    H3K36me3 Antibody
  • cut and tag antibody icon
    C15410210-50
    CTCF Antibody

Events

  • Long-Read Sequencing Meeting 2024
    Uppsala, Sweden
    Oct 21-Oct 23, 2024
  • NextGen Omics 2024
    London, UK
    Oct 23-Oct 25, 2024
  • FEBS 2024
    Budapest, Hungary
    Oct 28-Oct 31, 2024
  • 5th Danube Conference on Epigenetics
    Budapest, Hungary
    Oct 28-Oct 31, 2024
 See all events

 


       Site map   |   Contact us   |   Conditions of sales   |   Conditions of purchase   |   Privacy policy