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Article

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

BMC medical genomics - 3 Jul 2026

Ain Fasihat Ul, Shahzad Faheem, Jahan Shah, Javed Khursheed, Tahir Romeeza, Javed Hasnain, Siddiqua Rabia

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Adult

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Female

Humans

Male

Middle Aged

Case-Control Studies

Cohort Studies

Genetic Predisposition to Disease

Linkage Disequilibrium

Polymorphism, Single Nucleotide

Protein Tyrosine Phosphatase, Non-Receptor Type 22

South Asian People

Tuberculosis

Source

Open in PubMed Open full text

Identifiers

PMID: 42399866
DOI: 10.1186/s12920-026-02409-3
PMCID: PMC13602482

Genes

PTPN22

Variants

rs2476601

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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