Evidence map›Paper›PMID 40622919›Full record

ArticlePLoS genetics2025

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

Xiya Song, Han Jin, Xiangyu Li, Meng Yuan, Hong Yang, Yusuke Sato, Haruki Kume, Seishi Ogawa, Cheng Zhang, Adil Mardinoglu

Abstract read
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Article in PLoS genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Xiya SongScience for Life Laboratory, KTH - Royal Institute of Technology, Stockholm, Sweden.
Han JinScience for Life Laboratory, KTH - Royal Institute of Technology, Stockholm, Sweden.
Xiangyu LiScience for Life Laboratory, KTH - Royal Institute of Technology, Stockholm, Sweden.
Meng YuanScience for Life Laboratory, KTH - Royal Institute of Technology, Stockholm, Sweden.
Hong YangScience for Life Laboratory, KTH - Royal Institute of Technology, Stockholm, Sweden.
Yusuke SatoDepartment of Urology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Haruki KumeDepartment of Urology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Seishi OgawaDepartment of Pathology and Tumor Biology, Institute for the Advanced Study of Human Biology (WPI-ASHBi), Kyoto University, Kyoto, Japan.
Cheng ZhangScience for Life Laboratory, KTH - Royal Institute of Technology, Stockholm, Sweden.ORCID https://orcid.org/0000-0002-3721-8586
Adil MardinogluScience for Life Laboratory, KTH - Royal Institute of Technology, Stockholm, Sweden.ORCID https://orcid.org/0000-0002-4254-6090

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundClear cell renal carcinoma (ccRCC) is the predominant form of kidney cancer, but the prognostic value of expression quantitative trait loci (eQTLs) remains underexplored, particularly in Asian populations.

objectiveWe analyzed whole-exome sequencing and RNA sequencing data from 100 Japanese ccRCC patients to identify eQTLs. Multiple Cox proportional hazard models assessed survival associations, with validation in the Cancer Genome Atlas ccRCC cohort (n = 287).

resultsWe identified 805 eGenes and 4,558 cis-eQTLs in the Japanese cohort. Survival analysis revealed a total of 9 eGenes significantly associated with overall survival (FDR < 0.05). Further exploratory analysis were performed using 158 eGenes and 711 eQTLs (p-value <0.05) as potential prognostic signals. Among these, 223 eQTLs regulating 54 eGenes showed consistent prognostic effects at both expression and genetic levels. Cross-population validation identified eight eQTLs regulating 11 eGenes with reproducible survival associations across ethnicities, including a missense mutation in ERV3-1 and regulatory variants near ANKRD20A7P. These variants demonstrated consistent allelic effects on both gene expression and patient survival in both cohorts.

Indexed as

Carcinoma, Renal CellKidney NeoplasmsQuantitative Trait LociAgedCohort StudiesEast Asian PeopleExome SequencingFemaleGene Expression Regulation, NeoplasticHumansJapanMaleMiddle AgedPolymorphism, Single NucleotidePrognosisSurvival Analysis

Identifiers

PMID40622919
PMCPMC12233309

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.