Single Nucleotide Polymorphisms of PTPN22 Gene in Iranian Patients with Ulcerative Colitis

Abstract

Objectives: Protein tyrosine phosphatase non-receptor type 22 gene (PTPN22) single-nucleotide polymorphisms (SNP) have been associated with a number of different autoimmune diseases. This study aimed to investigate the association of five polymorphisms of PTPN22 gene with susceptibility to ulcerative colitis (UC) in Iran.

Materials and methods: A total of 67 patients diagnosed with UC (35 female and 32 male all under 18 years) and 93 healthy subjects were selected. The samples were genotyped for the, rs12760457, rs2476601, rs1310182, rs1217414, and rs33996649 in PTPN22 gene using real-time polymerase chain reaction (PCR) allelic discrimination TaqMan genotyping assays.

Results: The frequencies of the rs1310182 A and G alleles, and also the AA and GG genotypes were significantly different between the patient and the control groups (p < 0.05). The carriage of G allele of rs1310182 was significantly associated with increased risk of UC (OR (95% CI) = 1.17 (0.70–1.98), p < 0.001). Moreover, the genotype GG of SNP rs1310182 was significantly associated with UC (OR (95% CI) = 2.32 (1.13–4.76), p < 0.01). No association was found between other PTPN22 gene SNPs among UC patients.

Conclusion: PTPN22 gene polymorphism in rs1310182 could play a crucial role in susceptibility to UC.

Keywords:

• PTPN22
• ulcerative colitis
• IBD
• single nucleotide polymorphism
• genetics

Acknowledgment

All authors carried out the studies and data analyses and drafted the manuscript. All authors read and approved the final manuscript.

Disclosure statement

The authors declare that they have no conflicts of interest concerning this article.

Additional information

Funding

This work was supported by Vice‐chancellor for Research of School of Medicine, Tehran University of Medical Sciences (grant number 95-02-93-32278).