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  9. Predictive And Prognostic Markers
  11. Association Between Methylation Quantitative Trait Loci And Colorectal Cancer Risk, Survival And Cancer Recurrence

Association between methylation quantitative trait loci and colorectal cancer risk, survival and cancer recurrence

Ines Mesa-Eguiagaray1, Andrii Iakovliev2, Xue Li3,4

  • 1Centre for Global Health, Usher Institute, University of Edinburgh, Edinburgh, UK. ieguiaga@ed.ac.uk.

British Journal of Cancer
|June 12, 2025

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View abstract on PubMed

Summary
This summary is machine-generated.

This study identified 19 methylation quantitative trait loci (mQTLs) linked to colorectal cancer (CRC) risk, but found no association with patient survival or recurrence. These findings expand the known genetic factors influencing CRC development.

Area of Science:

  • Genetics
  • Epigenetics
  • Cancer Research

Background:

  • Epigenetic alterations are implicated in colorectal cancer (CRC) development.
  • Investigating the role of methylation quantitative trait loci (mQTLs) in CRC pathogenesis is crucial.

Purpose of the Study:

  • To determine the association between mQTLs and CRC risk.
  • To evaluate the impact of mQTLs on CRC patient survival and recurrence.

Main Methods:

  • Utilized a large Scottish case-control study (6821 CRC cases, 14,692 controls).
  • Derived 118,982 mQTLs using the Genetics of DNA Methylation Consortium (GoDMC) data.
  • Performed association analyses for CRC risk, survival, and recurrence using logistic and Cox regression models, complemented by colocalization analysis.

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Main Results:

  • Identified 19 mQTLs in 10 genomic regions associated with CRC risk, including novel associations with MDGA2 and STARD3.
  • Confirmed previously identified regions and identified new SNP-gene annotations for known CRC GWAS regions.
  • Found no significant association between the identified mQTLs and CRC survival or recurrence after FDR correction.
  • Colocalization analysis indicated shared causal variants for methylation and CRC risk in three of the ten regions.

Conclusions:

  • This research expands the understanding of genetic factors contributing to colorectal cancer.
  • No correlation was found between methylation quantitative trait loci and colorectal cancer patient survival or recurrence.