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Investigation of CLDN5 Gene 3' Untranslated Region rs10314 Polymorphism and Protein Levels in Children and
Emine Göktaş1, Necati Uzun2, Tuğba Deniz Kurnaz Demir3
1Department of Medical Genetics, Faculty of Medicine, Necmettin Erbakan University, Konya, Turkey, egoktas@erbakan.edu.tr.
Abstract:
Introduction: This study aimed to examine the association between the rs10314 polymorphism in the 3' untranslated region (3'UTR) of the CLDN5 gene and attention-deficit hyperactivity disorder (ADHD) and to evaluate the serum claudin-5 levels in relation to genotype and clinical severity.
Methods:
A total of 323 participants were included: 159 drug-naïve children and adolescents diagnosed with ADHD and 163 age- and sex-matched healthy controls. Genotyping for rs10314 was conducted using a TaqMan® allelic discrimination assay, and serum claudin-5 concentrations were determined by enzyme-linked immunosorbent assay. ADHD severity was assessed using the Turgay DSM-IV-based ADHD Rating Scale.
Results:
Serum claudin-5 levels were significantly lower in the ADHD group compared with controls (p < 0.001), indicating potential blood-brain barrier dysfunction. The CG genotype was more common in controls (p = 0.021), suggesting a protective effect. Claudin-5 levels did not vary across genotypes, and no correlation was observed between protein levels and clinical severity.
Conclusion:
This is the first study to assess both rs10314 and claudin-5 in ADHD and suggests that CLDN5 genetic variation and reduced claudin-5 expression may contribute to ADHD pathophysiology. Further studies are needed to confirm these findings and clarify their clinical implications.
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