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Related Experiment Video

Updated: Jul 11, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

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Published on: April 1, 2019

PTPN22 gene polymorphism in Behçet's disease.

N Sahin¹, M Bicakcigil, P Atagunduz

¹Division of Rheumatology, Department of Internal Medicine, Marmara University Medical School, Istanbul, Turkey.

Tissue Antigens

|September 18, 2007

Summary

The PTPN22 R620W gene polymorphism, linked to autoimmune diseases, was studied in Turkish Behçet

Area of Science:

Immunogenetics
Rheumatology
Molecular Biology

Background:

The PTPN22 gene encodes protein tyrosine phosphatase, a key regulator of immune responses.
A specific single nucleotide polymorphism (SNP), PTPN22 R620W (rs2476601), is associated with various autoimmune disorders globally.
Behçet's disease (BD) is a systemic vasculitis characterized by immune system overactivation.

Purpose of the Study:

To investigate the association of the PTPN22 R620W polymorphism with Behçet's disease in the Turkish population.
To determine the allelic and genotypic frequencies of PTPN22 rs2476601 in BD patients and healthy controls.

Main Methods:

Genotyping of 134 BD patients and 177 healthy Turkish controls using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP).

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Amplification of the PTPN22 SNP (rs2476601, A/G) region via PCR.

Digestion of the amplified product with the XcmI restriction enzyme to identify genotypes.

Main Results:

The heterozygous genotype (AG) frequency was 5.1% in the control group.
The PTPN22 R620W polymorphic allele was completely absent in the Behçet's disease patient group (P = 0.012).
A protective effect was suggested by the odds ratio (OR) of 0.65 (95% confidence interval: 0.0-1.1).

Conclusions:

The PTPN22 R620W polymorphism shows a lower prevalence in the general Turkish population and is absent in Behçet's disease patients.
These findings suggest a limited role for this specific PTPN22 polymorphism in the pathogenesis of Behçet's disease in Turkey.
Further research may be needed to explore other genetic factors contributing to BD susceptibility in this population.