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Updated: Jul 19, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Association of IL4RA and IL-8 polymorphism in predicting susceptibility to tuberculosis
Jyothish K1, Jawahar Lal Joshi2, Heena Kansal3
1Department of Pulmonary Medicine, Government Medical College, Tuberculosis and Chest Diseases Hospital, Patiala. jyothishavc99@gmail.com.
Abstract:
Mycobacterium tuberculosis causes an infectious bacterial disease frequently affecting the lungs. With two fatalities from tuberculosis (TB) occurring every three minutes, India has the highest disease burden. The etiology of TB has been linked to IL-8 and IL-4RA. Thus, the impact of the IL4RAQ576R and IL8 gene polymorphisms on TB susceptibility was assessed. 301 healthy and 301 TB patients participated in a cross-sectional study. Polymerase chain reaction-restriction fragment length polymorphism was performed to identify the genotype of the IL4RAQ576R and IL-8 +781 C/T gene polymorphism. The odds ratio and 95% confidence intervals were calculated using logistic regression to evaluate the risk of TB with IL4RAQ576R and IL-8 +781 C/T polymorphism. A significant association was found between IL-4RA (p=0.04) and IL-8 +781 C/T (p=0.03) in TB. Further, when clinical symptoms were compared with both polymorphisms, two of them, i.e., cough in IL-4RA576R (p=0.04) and breathlessness (p=0.01) in IL-8 +781 C/T, showed a significant association. Moreover, different combinations of the single nucleotide polymorphisms (SNPs) were made, and the 3-risk allele shows a significant protective role (p=0.02). There is considerable evidence showing that M. tuberculosis causes TB, an infectious disease that is genetically predisposed. The results of our study also showed that IL-4 RA Q576R and IL-8 +781 C/T played a significant protective function against TB, confirming the claim mentioned earlier. However, only the cough in IL-4RA576R and the dyspnea in IL-8 +781 C/T exhibited a significant co-relation in TB patients when symptoms were examined. Additionally, the combined effects of the two SNPs were investigated, and it was discovered that the 3-risk allele has a strong association with TB. Therefore, the polymorphisms mentioned earlier, which may also be influenced by ethnicity, may significantly impact the chance of developing TB.
Insights
Investigating interleukin-4 receptor alpha (IL-4RA) Q576R and interleukin-8 (IL-8) +781 C/T gene polymorphisms revealed a protective role against tuberculosis (TB). Specific symptoms like cough and breathlessness showed significant associations with these TB genetic markers.
Area of Science:
- Genetics
- Immunology
- Infectious Diseases
Background:
- Tuberculosis (TB), caused by Mycobacterium tuberculosis, poses a significant global health challenge, particularly in India.
- The genetic predisposition to TB has been investigated, with Interleukin-8 (IL-8) and Interleukin-4 Receptor Alpha (IL-4RA) implicated in its etiology.
Purpose of the Study:
- To assess the impact of IL4RAQ576R and IL8 gene polymorphisms on susceptibility to tuberculosis.
- To explore the association between specific TB symptoms and these genetic variations.
Main Methods:
- A cross-sectional study involving 301 healthy individuals and 301 TB patients.
- Genotyping of IL4RAQ576R and IL-8 +781 C/T polymorphisms using polymerase chain reaction-restriction fragment length polymorphism.
- Logistic regression analysis to calculate odds ratios and confidence intervals for TB risk.
Main Results:
- Significant associations were found between IL-4RA (p=0.04) and IL-8 +781 C/T (p=0.03) polymorphisms and TB.
- Cough in IL-4RA576R (p=0.04) and breathlessness in IL-8 +781 C/T (p=0.01) showed significant correlations with TB symptoms.
- A 3-risk allele combination demonstrated a significant protective role against TB (p=0.02).
Conclusions:
- IL-4 RA Q576R and IL-8 +781 C/T polymorphisms play a significant protective role against tuberculosis.
- Specific symptoms like cough and dyspnea are significantly correlated with these polymorphisms in TB patients.
- The combined effects of these single nucleotide polymorphisms (SNPs), particularly the 3-risk allele, are strongly associated with TB, suggesting a genetic influence on disease susceptibility potentially modulated by ethnicity.
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