Related Experiment Video
Updated: Jul 5, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
Role of the PTPN22 C1858T (R263Q) variant in tuberculosis susceptibility: genetic and functional evidence from a
Fasihat Ul Ain1,2, Faheem Shahzad3, Shah Jahan4
1Department of Immunology, University of Health Sciences, Lahore, Pakistan.
Background:
The PTPN22 gene encodes Lyp, a phosphatase involved in downregulating T-cell receptor signaling and modulating immune homeostasis. Although PTPN22 polymorphisms rs2476601 (R620W) and rs33996649 (R263Q) are associated with autoimmune diseases, their role in infectious diseases such as tuberculosis susceptibility remains unclear.
Objective:
To evaluate the association of PTPN22 polymorphisms with TB susceptibility and assess their functional relevance through gene expression profiling in a South Asian cohort.
Methodology:
PTPN22 polymorphisms and expression in 111 TB patients and 85 controls were analyzed by ARMS-PCR and RT-qPCR, with association and predictive analyses performed using logistic regression, ROC, LD (Haploview), and SPSS v26.
Results:
A significant association was observed between the rs33996649 C/T genotype and increased TB susceptibility (p < 0.008; OR = 5.87), while no significant association was found for rs2476601. Logistic regression indicating a stronger contribution to TB risk for rs33996649 (1.1279) compared to rs2476601 (0.2276). ROC curve analysis yielded an area under the curve (AUC) of 0.63, suggesting good predictive power for the combined genetic model. Linkage disequilibrium analysis demonstrated low correlation between the SNPs (D' ≈ 0.40, r2 ≈ 0), indicating independent inheritance. PTPN22 expression was modestly upregulated in TB patients (mean fold change = 1.2 vs. 1.0 in controls), though the difference was not statistically significant (p > 0.05), possibly reflecting compensatory immune regulation in variant carriers.
Conclusion:
The PTPN22 rs33996649 (R263Q) variant shows a significant independent association with TB susceptibility, highlighting its role as a genetic risk factor and potential target for immunogenetic research.
More Related Videos
Related Concept Videos
Single Nucleotide Polymorphisms-SNPs
Pulmonary Tuberculosis V
Latent tuberculosis infection occurs when TB bacteria are present in a person's body, but are not causing illness or symptoms. It is not contagious, and preventive treatment is crucial to avoid the progression...
Pulmonary Tuberculosis I
Causative Organism
The primary infectious agent causing tuberculosis is Mycobacterium tuberculosis, a slow-growing, acid-fast, aerobic rod that exhibits sensitivity to heat and ultraviolet light. Instances of Mycobacterium bovis and Mycobacterium avium contributing to the development of TB infection are rare.
Mode of...
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters
Pulmonary Tuberculosis II
Here is a detailed explanation of its pathophysiology:
Transmission: The process begins when a person inhales droplet nuclei containing M. tuberculosis. These are typically released into the air when an individual with pulmonary or...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

