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Updated: Jun 7, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
[Association of TGFB1 gene polymorphism -509C/T with disease severity in childhood allergic rhinitis]
Xin-jie Zhu1, Lu-ping Zhu, Mei-ping Lu
1Department of Otorhinolaryngology, the First Affiliated Hospital, Nanjing Medical University, Nanjing 210029, China.
Insights
The transforming growth factor-β1 (TGFB1) gene -509C/T polymorphism is associated with increased risk of moderate-to-severe allergic rhinitis (AR) in children. This genetic variation may influence childhood persistent AR severity.
Area of Science:
- Genetics
- Immunology
- Pediatrics
Context:
- Allergic rhinitis (AR) is a common chronic condition in children.
- Genetic factors are known to influence AR susceptibility and severity.
- The transforming growth factor-β1 (TGFB1) gene plays a role in immune regulation.
Purpose:
- To investigate the association between the TGFB1 gene promoter polymorphism -509C/T and the disease severity of childhood persistent allergic rhinitis.
- To explore potential genetic markers for predicting AR severity.
Summary:
- A study of 96 Chinese children with persistent AR analyzed the TGFB1 -509C/T polymorphism using PCR-RFLP.
- Patients with the TT genotype showed a significantly increased risk for moderate-to-severe AR compared to CC/CT genotypes.
- Serum total IgE and eosinophil cationic protein (ECP) levels were associated with the polymorphism, but not TGF-β1 levels.
Impact:
- The TGFB1 -509C/T polymorphism may serve as a potential genetic indicator for AR severity in pediatric populations.
- Findings contribute to understanding the genetic underpinnings of allergic diseases.
- This research may inform future personalized treatment strategies for childhood allergic rhinitis.
Objective:
To investigate the association between the promoter polymorphism -509C/T of the transforming growth factor-β1 gene (TGFB1) and the disease severity of allergic rhinitis (AR) in childhood.
Methods:
A total of 96 Chinese patients with persistent AR aged 3 - 17 (9.4 ± 3.8) years old were enrolled in the study. Among these patients 53.1% were mild cases (n = 51) and 46.9% were moderate-to-severe cases (n = 45). Genotyping was performed on peripheral blood genomic DNA by using PCR-RFLP. Serum levels of TGF-β1 was measured by ELISA, and serum total IgE, specific IgE and eosinophil cationic protein (ECP) levels were determined using an ImmunoCAP100E system. Statistical analysis was conducted with SPSS11.0 software.
Results:
Significant differences were found in genotype frequencies for the TGFB1-509C/T polymorphism between mild and moderate-to-severe AR patients (χ(2) = 8.361, P = 0.015). Children with persistent AR bearing the TT genotype of the -509C/T polymorphism had significantly increased risk for moderate-to-severe AR (Fisher's exact test, P = 0.007) compared to children with the CC/CT genotypes. There was no significant association between the -509C/T polymorphism and serum TGF-β1 levels (F = 0.389, P = 0.679); however, serum total IgE (F = 4.210, P = 0.018) and ECP (H = 6.297, P = 0.043) levels were found to be significantly associated with the polymorphism.
Conclusion:
The results suggest that the TGFB1 gene polymorphism -509C/T may play a potential role in the severity of persistent AR in childhood.
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