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Biomedicines
Special Issues
Genetic and Epigenetic Research on Kidney Diseases
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Genetic and Epigenetic Research on Kidney Diseases

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular Genetics and Genetic Diseases".

Deadline for manuscript submissions: 20 February 2027 | Viewed by 1796

Editor

Dr. Hailong Hu

E-Mail Website
Guest Editor
Renal, Electrolyte, and Hypertension Division, Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA
Interests: chronic kidney disease; acute kidney injury; single-cell transcriptome; spatial transcriptome; epigenetic; genome perturbation
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Chronic kidney disease (CKD) and acute kidney injury (AKI) significantly impact global health, often resulting from complex interactions involving genetic predispositions and epigenetic modifications. Genetic factors contribute to variations in disease susceptibility, progression rates, and therapeutic responses. Epigenetic mechanisms, including DNA methylation, histone modifications, and non-coding RNAs, dynamically regulate gene expression in kidney cells and are crucial in kidney development, disease initiation, and progression.

Understanding the intricate relationship between genetics and epigenetics is vital for unraveling the pathophysiological processes underlying kidney diseases. Emerging evidence has implicated critical genes and pathways in various forms of kidney disease, offering potential targets for intervention. Additionally, epigenetic biomarkers have demonstrated promise for early detection, prognostication, and tailoring therapeutic strategies.

This Special Issue, titled “Genetic and Epigenetic Research on Kidney Diseases”, seeks high-quality submissions of original research articles, comprehensive reviews, and innovative methodologies. We invite contributions highlighting translational studies, novel biomarkers, and personalized medicine approaches, with the aim of fostering collaborative research and accelerating clinical advancements in nephrology.

Dr. Hailong Hu
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-anonymized peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Biomedicines is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • kidney disease
  • genetics
  • epigenetics
  • DNA methylation
  • non-coding RNAs
  • precision medicine
  • therapeutic target
  • nephrology

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Published Papers (1 paper)

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Research

20 pages, 5068 KB  
Article
A Cross-Tissue Transcriptome-Wide Association Study Identifies Novel Susceptibility Genes for Glomerular Diseases
by Lichao Mao, Linhong Xu, Tong Zhu, Xintong Liu and Zehua Li
Biomedicines 2026, 14(5), 1072; https://doi.org/10.3390/biomedicines14051072 - 8 May 2026
Viewed by 1240
Abstract
Background/Objectives: Glomerular diseases (GD) possess strong polygenic susceptibility, yet exact causal genes remain unclear because most variants identified by genome-wide association studies (GWAS) reside in non-coding regions. While transcriptome-wide association studies (TWAS) effectively decode complex traits, cross-tissue profiling for GD remains largely [...] Read more.
Background/Objectives: Glomerular diseases (GD) possess strong polygenic susceptibility, yet exact causal genes remain unclear because most variants identified by genome-wide association studies (GWAS) reside in non-coding regions. While transcriptome-wide association studies (TWAS) effectively decode complex traits, cross-tissue profiling for GD remains largely unexplored. Therefore, this study employs an integrative cross-tissue TWAS and Mendelian randomization framework to systematically identify and validate novel GD susceptibility genes. Methods: We conducted a systematic cross-tissue TWAS integrating Genotype-Tissue Expression (GTEx) v8 eQTL data across 49 tissues. Candidate genes were nominated using five complementary frameworks (sparse canonical correlation analysis (sCCA), functional summary-based imputation (FUSION), fine-mapping of causal gene sets (FOCUS), summary-data-based Mendelian randomization (SMR), and multi-marker analysis of genomic annotation (MAGMA)). Findings were refined via Mendelian randomization (MR), pathway enrichment, protein interaction networks, and druggability profiling. Results: We identified 21 candidate susceptibility genes for GD, with 10 genes (AGER, C6orf48, CSNK2B, CYP21A2, HLA-DRB1, HSD17B8, LST1, MICB, PRRT1, TCF19) strongly supported by MR analysis. Notably, five of these MR-prioritized genes (C6orf48, CSNK2B, HSD17B8, LST1, and PRRT1) were previously unreported. Functionally, these prioritized genes are primarily involved in immune modulation, inflammation, and steroid metabolism. Furthermore, five genes (AGER, CSNK2B, CYP21A2, HLA-DRB1 and MICB) were identified as potentially druggable targets. Conclusions: This first systematic cross-tissue TWAS of GD prioritizes a set of genetically supported susceptibility genes. By uncovering novel drivers and druggable proteins, this study advances the mechanistic understanding of GD and provides a foundation for future therapeutic development and precision nephrology. Full article
(This article belongs to the Special Issue Genetic and Epigenetic Research on Kidney Diseases)
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