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

Teresa  Grieco; Elisa  Moliterni; Giovanni  Paolino; Camilla  Chello; Alvise  Sernicola; Colin Gerard Egan; Fabrizio  Nannipieri; Santina  Battaglia; Marina Accoto; Erika  Tirotta; Silvia  Trasciatti; Silvano Bonaretti; Simona Nencioni; Elena Biasci; Giovanni Pellacani; Stefano Calvieri

doi:10.5826/dpc.1403a214

Authors

Teresa Grieco Dermatology Clinic, Department of Clinical Internal, Anesthesiological and Cardiovascular Sciences, Sapienza University of Rome, Rome, Italy
Elisa Moliterni Dermatology Clinic, Department of Clinical Internal, Anesthesiological and Cardiovascular Sciences, Sapienza University of Rome, Rome, Italy
Giovanni Paolino Unit of Dermatology and Cosmetology, IRCCS University Vita-Salute San Raffaele, Milan, Italy
Camilla Chello Dermatology Clinic, Department of Clinical Internal, Anesthesiological and Cardiovascular Sciences, Sapienza University of Rome, Rome, Italy
Alvise Sernicola Dermatology Clinic, Department of Clinical Internal, Anesthesiological and Cardiovascular Sciences, Sapienza University of Rome, Rome, Italy
Colin Gerard Egan CE Medical Writing SRLS, Pisa Italy
Fabrizio Nannipieri Clinical Research, Abiogen Pharma, Pisa, Italy
Santina Battaglia Clinical Research, Abiogen Pharma, Pisa, Italy
Marina Accoto Clinical Research, Abiogen Pharma, Pisa, Italy
Erika Tirotta Clinical Research, Abiogen Pharma, Pisa, Italy
Silvia Trasciatti Galileo Research Srl, Pisa, Italy
Silvano Bonaretti Galileo Research Srl, Pisa, Italy
Simona Nencioni Galileo Research Srl, Pisa, Italy
Elena Biasci Galileo Research Srl, Pisa, Italy
Giovanni Pellacani Dermatology Clinic, Department of Clinical Internal, Anesthesiological and Cardiovascular Sciences, Sapienza University of Rome, Rome, Italy
Stefano Calvieri Dermatology Clinic, Department of Clinical Internal, Anesthesiological and Cardiovascular Sciences, Sapienza University of Rome, Rome, Italy

Keywords:

vitamin D receptor, atopic dermatitis, polymorphisms, tight junction proteins

Abstract

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.

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