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Published on: October 5, 2015
IL23R(Arg381Gln) functional polymorphism is associated with active pulmonary tuberculosis severity
Walid Ben-Selma1, Jalel Boukadida
1Laboratory of Microbiology and Immunology, Farhat Hached University Hospital, Sousse, Tunisia. wbenselma@hotmail.com
Clinical and Vaccine Immunology : CVI
|June 15, 2012
Summary
A specific gene variant in interleukin-23 receptor (IL23R) is linked to severe pulmonary tuberculosis (TB) in Tunisia. This reduced-function IL23R allele is more common in patients with extensive lung damage, indicating its role in disease severity.
Area of Science:
- Immunogenetics
- Pulmonary Medicine
- Human Genetics
Background:
- Pulmonary tuberculosis (TB) severity varies significantly among individuals.
- Genetic factors are known to influence TB susceptibility and disease progression.
- The interleukin-23 receptor (IL23R) gene is a key component of the immune system involved in inflammatory responses.
Purpose of the Study:
- To investigate the association between a functional single nucleotide polymorphism (SNP) in the IL23R gene (rs11209026, 1142G→A) and pulmonary TB disease severity in the Tunisian population.
- To determine if the reduced-function allele (1142A) of IL23R is correlated with extensive lung involvement in TB patients.
Main Methods:
- Case-control study design involving 168 Tunisian pulmonary TB patients and 150 healthy controls.
- Patients were stratified into minimal/moderate disease (Pmd) and extensive disease (Pad) groups based on lung involvement.
- Genotyping of the IL23R SNP (rs11209026) was performed using the PCR-restriction fragment length polymorphism (PCR-RFLP) method.
Main Results:
- The IL23R reduced-function allele (1142A) and its associated genotypes (AA, AG) were significantly overrepresented in the extensive disease (Pad) group compared to controls (P < 10(-8)).
- The 1142A allele and AA genotype were associated with increased risks of extensive lung involvement in TB (2.79-fold and 7.74-fold increased risks, respectively; P < 10(-5)).
- These findings highlight a strong genetic association between the IL23R polymorphism and pulmonary TB disease severity.
Conclusions:
- The reduced-function polymorphism (1142G→A) in the IL23R gene is significantly associated with increased severity of pulmonary tuberculosis in the Tunisian population.
- This IL23R variant may play a crucial role in determining the extent of lung damage in active TB.
- The study identifies IL23R as a potential genetic marker for predicting TB disease outcomes.
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