Association between vitamin D receptor polymorphisms, tight junction proteins and clinical features of adult patients with atopic dermatitis

• Main Authors: Teresa Grieco (Author), Elisa Moliterni (Author), Giovanni Paolino (Author), Camilla Chello (Author), Alvise Sernicola (Author), Colin Gerard Egan (Author), Fabrizio Nannipieri (Author), Santina Battaglia (Author), Marina Accoto (Author), Erika Tirotta (Author), Silvia Trasciatti (Author), Silvano Bonaretti (Author), Simona Nencioni (Author), Elena Biasci (Author), Giovanni Pellacani (Author), Stefano Calvieri (Author)
• Format: Book
• Published: Mattioli1885, 2024-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 10.5826/dpc.1403a214; 2160-9381
• Keywords: vitamin D receptor; atopic dermatitis; polymorphisms; tight junction proteins; Dermatology; RL1-803
• Source: Dermatology Practical & Conceptual, Vol 14, Iss 3 (2024)

Background: Few studies have explored the intricate connections between vitamin D receptor (VDR) gene polymorphisms, VDR, tight junction (TJ) protein expression and clinical features of atopic dermatitis (AD). Methods: From 43 adult AD patients, VDR polymorphisms were genotyped from peripheral blood samples using polymerase chain reaction-restriction fragment length polymorphism. VDR, occludin, claudin-1 and ZO-1 protein expression from skin lesion biopsies were assessed by immunohistochemistry. Results: The A1012G heterozygous VDR polymorphism exhibited a lower odds ratio (OR) for juvenile AD onset (OR: 0.046, 95% CI 0.004-0.51, p=0.012). In contrast, the presence of ≥2 homozygous VDR polymorphisms were significantly associated with positive skin prick test (SPT) (10/20, 50%) vs. negative SPT (1/23, 4.3%; p=0.0003). The most highly expressed TJ proteins in lesions of AD patients were claudin-1 and ZO-1, while VDR and occludin were less prevalent. A significant correlation was observed between ZO-1 expression and a body mass index ≥30 kg/m2 (OR: 12.1, 95% CI 1.06-137.9, p=0.045). Claudin-1 expression was associated with a positive SPT (OR: 8.23, 95% CI 1.04-65.5, p=0.046) and serum 25(OH)D levels were negatively correlated with ZO-1 expression (rho= -0.43, p=0.0058). Conclusion: This study provides novel insights into the relationship between VDR gene polymorphisms, VDR, TJ protein expression, and clinical features in adult AD patients, highlighting a significant role of vitamin D in the pathophysiology of this disease.