Abstract
BackgroundBehcet's disease is known as a recurrent, multisystem inflammation and immune-related disease. Protein tyrosine phosphatase non-receptor 22 (PTPN22) is a key negative regulator of T lymphocytes and polymorphisms of the PTPN22 gene have been shown to be associated with various immune-related diseases. The present study was performed to assess the association between PTPN22 polymorphisms and Behcet's disease in two Chinese Han populations.Methodology/Principal FindingsA total of 516 patients with ocular Behcet's disease and 690 healthy controls from two Chinese Han populations were genotyped by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method for three single nucleotide polymorphisms (SNPs). Hardy-Weinberg equilibrium was tested using the χ2 test. Genotype frequencies were estimated through direct counting. Allele and genotype frequencies were compared between patients and controls using logistic regression analysis. The results revealed that there was no association between the tested three PTPN22 SNPs (rs2488457, rs1310182 and rs3789604) and ocular Behcet's disease (p>0.05). Categorization analysis according to the clinical features did not show any association of these three polymorphisms with these parameters (p>0.05).Conclusions/SignificanceThe investigated PTPN22 gene polymorphisms (rs2488457, rs1310182 and rs3789604) were not associated with ocular Behcet's disease in two Chinese Han populations, and showed that it may be different from other classical autoimmune diseases. More studies are needed to confirm these findings for Behcet's disease in other ethnic backgrounds.
Highlights
Behcet’s disease (BD) is known as a multisystem inflammatory disorder of unknown etiology
Conclusions/Significance: The investigated Protein tyrosine phosphatase non-receptor 22 (PTPN22) gene polymorphisms were not associated with ocular Behcet’s disease in two Chinese Han populations, and showed that it may be different from other classical autoimmune diseases
The results failed to show an association of PTPN22 gene polymorphisms with risk to ocular BD
Summary
Behcet’s disease (BD) is known as a multisystem inflammatory disorder of unknown etiology. Conclusions/Significance: The investigated PTPN22 gene polymorphisms (rs2488457, rs1310182 and rs3789604) were not associated with ocular Behcet’s disease in two Chinese Han populations, and showed that it may be different from other classical autoimmune diseases. Earlier studies in a Turkish population with BD analyzed the rs2476601 genotype of the PTPN22 gene and concluded that this polymorphism had a limited (protective) role in disease pathogenesis [17].
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