Role of the PTPN22 C1858T (R263Q) variant in tuberculosis susceptibility: genetic and functional evidence from a South Asian cohort.

Publication date: Jul 03, 2026

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. To evaluate the association of PTPN22 polymorphisms with TB susceptibility and assess their functional relevance through gene expression profiling in a South Asian cohort. 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. A significant association was observed between the rs33996649 C/T genotype and increased TB susceptibility (p 

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Concepts Keywords
Asian Case-Control Studies
Genetic Cellular Immunity
Pcr Host-Pathogen Interactions
Rs2476601 Single Nucleotide Polymorphism
Tuberculosis Tuberculosis

Semantics

Type Source Name
disease MESH tuberculosis
pathway KEGG Tuberculosis
disease MESH Lyp
disease MESH autoimmune diseases
disease MESH infectious diseases
drug DRUGBANK Saquinavir
pathway REACTOME Reproduction
disease MESH included
disease MESH AIDS
disease MESH uhs
disease MESH infection
pathway REACTOME Immune System
disease MESH Genetic predisposition
drug DRUGBANK BCG vaccine
drug DRUGBANK L-Tyrosine
pathway REACTOME TCR signaling
disease MESH bacterial infections
disease MESH chronic cough
disease MESH chronic illness
drug DRUGBANK Edetic Acid
drug DRUGBANK Phenol
drug DRUGBANK Water
disease MESH Rad
disease MESH Fever
disease MESH Weight loss
disease MESH Chest pain
drug DRUGBANK Aspartame
drug DRUGBANK L-Arginine
drug DRUGBANK L-Glutamine

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