Novel Genetic Variants Associated with Diabetic Neuropathy Risk in Type 2 Diabetes: A Whole-Exome Sequencing Approach
The pathogenesis of diabetic neuropathy involves complex interactions between metabolic and genetic factors. This study aimed to identify novel genetic variants associated with neuropathy risk in type 2 diabetes through reanalysis of whole-exome sequencing data. We identified seven new SNPs with significant associations, including intronic variants in <i>TTN</i>, <i>PLCB1</i>, <i>CCNI</i>, and <i>CDC34</i> and a 5'-upstream variant in <i>BTG2</i>. These variants are implicated in muscle elasticity, neurotransmission, endothelial regeneration, and apoptosis resistance, suggesting multifaceted genetic contributions to neuropathy development. These findings enhance our understanding of diabetic neuropathy and may support future advances in risk stratification and therapy development.
Authors
- Anett Illés (ORCID: https://orcid.org/0000-0001-5351-9015)
- Ramóna Rácz (ORCID: https://orcid.org/0009-0000-0061-8116)
- Orsolya Erzsébet Vági (ORCID: https://orcid.org/0000-0002-9664-9423)
- Bálint Tóbiás (ORCID: https://orcid.org/0000-0003-4343-1866)
- Anna Erzsébet Körei (ORCID: https://orcid.org/0000-0001-6201-2961)
- Noémi Hajdú
- Magdolna Békeffy (ORCID: https://orcid.org/0009-0005-5659-9758)
- Zsuzsanna Putz (ORCID: https://orcid.org/0000-0002-0674-337X)
- Henriett Pikó
- Kristóf Árvai
- Ildikó Istenes (ORCID: https://orcid.org/0000-0001-5582-6166)
- Péter Kempler (ORCID: https://orcid.org/0000-0002-6072-8832)
- Péter András Lakatos
- Dóra Tordai
- János P. Kósa
- Zsófia Ludvig
Institutions
- Semmelweis University (HU)
- Hungarian Research Network (HU)
Publication Details
- Journal
- International Journal of Molecular Sciences
- Published
- 2025-06-28
- DOI
- https://doi.org/10.3390/ijms26136239
- Citations
- 1
- Primary Topic
- Metabolism, Diabetes, and Cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.81