Validation of ITPR2, DPF3, EPAS1, and PVT1-associated SNPs as biomarkers for RCC in an independent case-control cohort
This study provides independent evidence supporting the biological relevance of GWAS-identified loci in RCC. While several variants showed nominal associations with disease risk, <i>ITPR2</i> rs1049380 emerged as a variant of potential prognostic relevance for five-year overall survival. Overall, these findings highlight the differential contribution of genetic variants to RCC susceptibility and progression and should be considered hypothesis-generating, warranting validation in larger, independent cohorts.
Authors
- Elena Arance (ORCID: https://orcid.org/0000-0003-0963-079X)
- Fernando Marín-Benesiu (ORCID: https://orcid.org/0009-0000-5310-8857)
- Fernando Vázquez-Alonso
- R. M. Rios-Pelegrina
- A. C. Jiménez-Domínguez
- L. J. Martínez-González
- M. J. Álvarez-Cubero
- C. M. Morales-Álvarez
Institutions
- Universidad de Granada (ES)
- Instituto de Investigación Biosanitaria de Granada (ES)
- Hospital Universitario Virgen de las Nieves (ES)
- Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research (ES)
- Parque Tecnológico de la Salud (ES)
Publication Details
- Journal
- Frontiers in Medicine
- Published
- 2026-03-11
- DOI
- https://doi.org/10.3389/fmed.2026.1734511
- Primary Topic
- Renal cell carcinoma treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Pfizer
- Universidad de Granada