PTPN2 rs1893217 single-nucleotide polymorphism is associated with risk of Behçet's disease in a Chinese Han population.

Objectives: Behçet's disease (BD) is a rare, chronic, relapsing, systemic, immune-mediated vasculitis and the etiology remains to be defined. This study investigated single-nucleotide polymorphisms (SNP) of tyrosine-protein phosphatase non-receptor type 2 (PTPN2) and inducible T-cell co-stimulator-ligand gene (ICOSLG) in Chinese Han BD patients and healthy controls because SNPs of these two genes are associated with risk of developing other auto-inflammation diseases.

Methods: A total of 407 BD patients and 679 ethnically matched healthy controls were recruited for genotyping of PTPN2 rs1893217, rs2542151, rs2847297 and rs7234029 SNPs and ICOSLG rs2838519 and rs762421 SNPs using a Sequenom MassArray system.

Results: PTPN2 rs1893217 was associated with risk of developing BD (χ2=10.01, pc=0.040), while the PTPN2 rs2542151 genotype had a weak association in basic genotype analysis (χ2=7.49, p=0.024), but it could not withstand the strongest Bonferroni correction (pc=0.14). In contrast, PTPN2 rs2847297 and rs7234029 and ICOSLG rs2838519 and rs762421 did not correlate with BD risk. Moreover, logistic analysis with the additive, dominant and recessive genetic models did not reveal any statistical difference between BD cases and controls (pc>0.05). In addition, associations were observed between the two SNPs (rs1893217, rs2542151) and the patients with gastrointestinal involvement (pc=0.027, pc=0.032, respectively).

Conclusions: PTPN2 variant rs1893217 was associated with risk of BD development in a Han Chinese population. Further study will confirm this finding and investigate the role of PTPN2 in development of BD.