Association of PTPN22 single nucleotide polymorphisms with chronic spontaneous urticaria

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Maryam Sadr
Neda Khalili
Bahareh Mohebbi
Banafsheh Mosharmovahed
Parivash Afradi
Nima Rezaei


Urticaria, Gene Polymorphism, PTPN22, Chronic spontaneous urticaria.


Introduction and objectives: Chronic spontaneous urticaria (CSU) is thought to be an auto-immune disease in a subpopulation of patients. Protein tyrosine phosphatase-22 (PTPN22) polymorphisms are considered to be one of the strongest contributing factors to autoimmune diseases. In this study, we aimed to investigate the potential association of several PTPN22 single nucleotide polymorphisms (SNPs) with CSU in an Iranian population.
Material and methods: A total of 93 CSU patients and 100 healthy individuals were included in this study. Five SNPs within the PTPN22 gene were analyzed using TaqMan genotyping assays. The frequency of alleles, genotypes, and haplotypes of PTPN22 SNPs (rs12760457, rs2476601, rs1310182, rs1217414, and rs33996649) was investigated.
Results: A significantly higher prevalence of the rs1310182 T allele was observed among patients compared with controls [OR = 1.75 (95% CI: 1.17–2.63); P = 0.007]. In addition, the rs1310182 CC genotype and TT genotype were 0.47 and 2.06 times more common in patients, respectively (P = 0.03). Moreover, haplotype analysis demonstrated that CGCGC, CGTGC, and TGCGC (P < 0.001) were significantly associated with CSU. No significant differences were observed between the patients and controls in the other analyzed PTPN22 SNPs.
Conclusions: Polymorphisms of the PTPN22 gene are associated with an increased susceptibility to CSU in the studied Iranian population.

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