Novel Genetic Variants Associated with Diabetic Neuropathy Risk in Type 2 Diabetes: A Whole-Exome Sequencing Approach
Noémi Hajdú1, Dóra Zsuzsanna Tordai1, Ramóna Rácz1
1Department of Internal Medicine and Oncology, Semmelweis University, 1083 Budapest, Hungary.
Abstract:
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 TTN, PLCB1, CCNI, and CDC34 and a 5'-upstream variant in BTG2. 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.
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