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Updated: Sep 16, 2025

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Systematically identification of survival-associated eQTLs in a Japanese kidney cancer cohort.

Xiya Song1, Han Jin1, Xiangyu Li1

  • 1Science for Life Laboratory, KTH - Royal Institute of Technology, Stockholm, Sweden.

Plos Genetics
|July 7, 2025
PubMed
Summary
This summary is machine-generated.

Expression quantitative trait loci (eQTLs) offer prognostic insights in clear cell renal carcinoma (ccRCC). This study identified novel eQTLs linked to ccRCC survival, with cross-ethnic validation highlighting potential biomarkers.

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Area of Science:

  • Genomics and Bioinformatics
  • Oncology
  • Molecular Biology

Background:

  • Clear cell renal carcinoma (ccRCC) is the most common kidney cancer subtype.
  • The prognostic significance of expression quantitative trait loci (eQTLs) in ccRCC is not well understood, especially in Asian populations.

Purpose of the Study:

  • To identify eQTLs in Japanese ccRCC patients.
  • To assess the association of eQTLs with patient survival.
  • To validate findings in an independent ccRCC cohort.

Main Methods:

  • Whole-exome and RNA sequencing data from 100 Japanese ccRCC patients.
  • Identification of eGenes and cis-eQTLs.
  • Survival analysis using multiple Cox proportional hazard models.
  • Validation in the Cancer Genome Atlas (TCGA) ccRCC cohort.

Main Results:

  • Identified 805 eGenes and 4,558 cis-eQTLs in the Japanese cohort.
  • Nine eGenes were significantly associated with overall survival (FDR < 0.05).
  • Exploratory analysis revealed 223 eQTLs regulating 54 eGenes with consistent prognostic effects.
  • Eight eQTLs regulating 11 eGenes showed reproducible survival associations across ethnicities, including variants in ERV3-1 and ANKRD20A7P.

Conclusions:

  • eQTLs play a significant role in ccRCC prognosis.
  • Identified specific eQTLs and eGenes with consistent prognostic value across different populations.
  • Variants in ERV3-1 and ANKRD20A7P show potential as cross-ethnic prognostic biomarkers for ccRCC.