Advancing Nephrogenetics: Diagnosis, Genetic Testing, and Treatment Innovations

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (25 February 2026) | Viewed by 983

Special Issue Editors


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Guest Editor
1. Department of Anatomy, Histology and Embryology, University of Split School of Medicine, Šoltanska 2A, 21000 Split, Croatia
2. Center for Translational Research in Biomedicine, University of Split School of Medicine, Soltanska 2A, 21000 Split, Croatia
Interests: kidney development; congenital anomalies of the kidney; next-generation sequencing; chronic kidney diseases; precision medicine; diabetic nephropathy
Special Issues, Collections and Topics in MDPI journals

E-Mail Website
Guest Editor
1. Department of Anatomy, Histology and Embryology, University of Split School of Medicine, Šoltanska 2A, 21000 Split, Croatia
2. Center for Translational Research in Biomedicine, University of Split School of Medicine, Soltanska 2A, 21000 Split, Croatia
Interests: histology; embryology; genetic kidney disorders; animal models

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Co-Guest Editor
1. Department of Anatomy, Histology and Embryology, School of Medicine, University of Split, Soltanska 2A, 21000 Split, Croatia
2. Center for Translational Research in Biomedicine, University of Split School of Medicine, Soltanska 2A, 21000 Split, Croatia
Interests: developmental and molecular mechanisms of congenital anomalies of the kidney and urinary tract (CAKUT); kidney; kidney development; kidney disease; developmental biology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

(1) We are pleased to invite you to submit to a Special Issue focused on Advancing Nephrogenetics, exploring how genetic insights are reshaping the landscape of kidney disease diagnosis, classification, and therapy.

(2) This Special Issue aims to bring together original research, reviews, and clinical perspectives that highlight the evolving role of genetics in nephrology. The goal is to showcase state-of-the-art approaches to diagnosing hereditary kidney diseases, innovations in genetic testing technologies, and emerging therapeutic strategies grounded in molecular findings.  

(3) We welcome contributions addressing a broad spectrum of topics within nephrogenetics, including but not limited to the following:

  • Identification of novel genetic variants and mechanisms underlying monogenic or complex renal disorders;
  • Diagnostic utility and clinical integration of next-generation sequencing (NGS), including whole-exome and whole-genome sequencing;
  • Genotype–phenotype correlations and their implications for disease stratification and management;
  • Advances in prenatal and preimplantation genetic diagnostics for hereditary kidney diseases;
  • Functional studies of disease-associated variants and their relevance to kidney pathophysiology;
  • Precision medicine and targeted therapies informed by genetic findings;
  • Ethical, psychological, and practical challenges in genetic testing and counseling in nephrology;
  • Bioinformatics tools and databases relevant to nephrogenetic research;
  • Both clinical and experimental studies are welcome, along with case reports that significantly contribute to the understanding of nephrogenetic disorders.

In this Special Issue, original research articles and reviews are welcome. Research areas may include (but are not limited to) the following:

We look forward to receiving your contributions. 

Prof. Dr. Katarina Vukojević
Dr. Anita Racetin
Dr. Nela Kelam
Guest Editors

Manuscript Submission Information

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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

  • nephrogenetics
  • hereditary kidney disease
  • genetic testing
  • next-generation sequencing
  • renal genomics
  • precision nephrology
  • gene therapy
  • targeted treatment
  • personalized medicine

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Published Papers (1 paper)

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Research

11 pages, 1081 KB  
Article
A Genome-Wide Association Study on Calcium Nephrolithiasis in Chinese Han Population Identifies Novel Susceptible Loci at 4q35.1, 5q31.2 and 18q21.2
by Lujia Wang, Zijian Zhou, Xiaoling Lin, Kangcheng Luo, Peng Gao, Deke Jiang and Zhong Wu
Genes 2026, 17(3), 313; https://doi.org/10.3390/genes17030313 - 10 Mar 2026
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Abstract
Background: Nephrolithiasis is a significant global health and economic challenge, with an increasing prevalence and a high recurrence rate. However, there is limited knowledge regarding the potential associations between calcium nephrolithiasis risk and Chinese Han populations currently. Methods: To identify the [...] Read more.
Background: Nephrolithiasis is a significant global health and economic challenge, with an increasing prevalence and a high recurrence rate. However, there is limited knowledge regarding the potential associations between calcium nephrolithiasis risk and Chinese Han populations currently. Methods: To identify the genetic factors for calcium nephrolithiasis, we presented a genome-wide association study (GWAS) using a total of 1006 calcium nephrolithiasis cases and 1200 controls of Chinese Han ethnicity. Suggestive loci (p < 1.0 × 10−6) were replicated in 445 cases and 1008 controls. We also assessed the association of GWAS-level significant single-nucleotide polymorphisms (SNPs) with quantitative traits, including metabolic, kidney-related, and electrolyte traits. Results: Here we found three novel loci for calcium nephrolithiasis: SORBS2 on 4q35.1 (rs3736194; p = 2.84 × 10−13, OR = 0.6279), CXXC5 on 5q31.2 (rs356450; p = 6.09 × 10−16, OR = 2.0312), and MBD2 on 18q21.21 (rs55826947; p = 6.29 × 10−10, OR = 0.6017). Subsequent analyses revealed the association of SNP rs3736194 with higher serum carbon dioxide (p = 0.04666), rs356450 with lower serum chloride (p = 0.02992), and rs55826947 with higher BMI (p = 0.03174), respectively. Conclusions: We performed the first GWAS on calcium nephrolithiasis in a Chinese Han population cohort and identified three novel susceptibility loci on 4q35.1, 5q31.2, and 18q21.2. Further research into the molecular mechanisms underlying these variations in nephrolithiasis is warranted. Full article
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