Association between Transforming Growth Factor β1 Gene Polymorphism and Chronic Spontaneous Urticaria

Atta, Amal Hassan; Ahmed, Esraa Ahmed Mahmoud; Fawzy, Manal Mohamed; Elgharabawy, Eman Salah

doi:10.21608/zumj.2025.399690.4032

Association between Transforming Growth Factor β1 Gene Polymorphism and Chronic Spontaneous Urticaria

Document Type : Original Article

Authors

¹ Professor of Medical Microbiology and Immunology, Faculty of Medicine - Zagazig University

² Demonstrator of Medical Microbiology and Immunology, Faculty of Medicine - Zagazig University

³ Assistant Professor of Dermatology, Venereology and Andrology, Faculty of Medicine - Zagazig University

⁴ Assistant Professor of Medical Microbiology and Immunology, Faculty of Medicine - Zagazig University

10.21608/zumj.2025.399690.4032

Abstract

Background: Chronic spontaneous urticaria (CSU) is a prevalent skin disease with an unclear pathogenesis. Transforming growth factor beta 1 (TGF-β1) is an immunoregulatory cytokine potentially incorporated in autoimmune as well as inflammatory diseases.

Methods: This case-control study was carried out involving 24 CSU patients and 24 age- and sex-matched healthy controls. All subjects were genotyped for detection of TGF-β1 codon 10 (rs1982073) and codon 25 (rs1800471) polymorphisms using Amplification Refractory Mutation System PCR (ARMS-PCR).

Results: The incidence of the G/C genotype at codon 25 was significantly higher amongst CSU patients than controls (87.5% vs. 37.5%, p = 0.005), having an odds ratio (OR) of 10.9 (95% CI: 2.5–47.1). The C allele was also more common among patients (p = 0.031; OR =2.62 (95% CI: 1.08–6.32). The risk of CSU is 10.9 times higher among those who are CG genotype. C allele significantly increases the risk of CSU by 2.62 folds. Non-significant correlations was found in distribution of genotypes for TGF-β1 codon 10 between patients and controls (p = 0.53), also between TGF-β1 gene polymorphisms (at codon 10 and codon 25) and age (p = 0.5, >0.999), gender (p >0.999), ASST reactivity (p =0.4, 0.2), angioedema (p = 0.5, >0.999), or UAS7 scores (p = 0.1).

Conclusion: TGF-β1 gene polymorphism at codon 25 is associated with a higher risk of CSU, with carriers of the G/C genotype showing almost 10.5-fold increased risk. However, these polymorphisms did not affect clinical severity or other features.

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