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Systematically identification of survival-associated eQTLs in a Japanese kidney cancer cohort
KTH, Centres, Science for Life Laboratory, SciLifeLab. KTH, School of Engineering Sciences in Chemistry, Biotechnology and Health (CBH), Protein Science, Systems Biology.ORCID iD: 0009-0001-3893-682X
KTH, Centres, Science for Life Laboratory, SciLifeLab. KTH, School of Engineering Sciences in Chemistry, Biotechnology and Health (CBH), Protein Science, Systems Biology.ORCID iD: 0000-0002-0955-6289
KTH, School of Engineering Sciences in Chemistry, Biotechnology and Health (CBH), Protein Science, Systems Biology. KTH, Centres, Science for Life Laboratory, SciLifeLab.ORCID iD: 0000-0002-8301-9959
KTH, Centres, Science for Life Laboratory, SciLifeLab. KTH, School of Engineering Sciences in Chemistry, Biotechnology and Health (CBH), Protein Science, Systems Biology.ORCID iD: 0000-0002-9248-3294
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2025 (English)In: PLOS Genetics, ISSN 1553-7390, E-ISSN 1553-7404, Vol. 21, no 7 July, article id e1011770Article in journal (Refereed) Published
Abstract [en]

Background Clear 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. Objective We 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). Results We 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.

Place, publisher, year, edition, pages
Public Library of Science (PLoS) , 2025. Vol. 21, no 7 July, article id e1011770
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Cancer and Oncology
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URN: urn:nbn:se:kth:diva-368942DOI: 10.1371/journal.pgen.1011770ISI: 001524169900006PubMedID: 40622919Scopus ID: 2-s2.0-105009893848OAI: oai:DiVA.org:kth-368942DiVA, id: diva2:1992651
Note

QC 20250828

Available from: 2025-08-28 Created: 2025-08-28 Last updated: 2025-10-10Bibliographically approved

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Song, XiyaJin, HanLi, XiangyuYuan, MengYang, HongZhang, ChengMardinoglu, Adil

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