Genotype analysis of polymorphisms in autoimmune susceptibility genes, CTLA-4 and PTPN22, in an acute anterior uveitis cohort

[摘要] Purpose: Acute anterior uveitis (AAU) isthe most common form of uveitis and is thought to be autoimmune innature. Recent studies have described genes that act as mastercontrollers of autoimmunity. Protein tyrosine phosphatase type 22 (PTPN22)and Cytotoxic T lymphocyte antigen-4 (CTLA-4) are two of thesegenes, and single nucleotide polymorphisms (SNPs) in the genes encodingthese molecules have been associated with several autoimmune diseases.In this study we have analyzed SNPs in PTPN22 and CTLA-4in patients with AAU. Methods: The functional protein tyrosinephosphatase type 22 (PTPN22) SNP (R620W rs2476601,1858C/T), and two CTLA-4 SNPs (rs5742909,−318C/T and rs231775,49A/G) were analyzed in 140 patients with AAU and 92 healthy controlsby sequence-specific primer -polymerase chain reaction (SSP-PCR). Datawas analyzed by χ2 analysis and Fisher’s exact test. Results: There was no significantassociation between PTPN22 620W, CTLA-4 −318C/T, or CTLA-449A/G and AAU. Similarly, there was no association with the three SNPswhen patients were classified by race or gender. Finally, there was noassociation with the presence of ankylosing spondylitis in the patientcohort. Conclusions: The data do not support anassociation between SNPs in PTPN22 and CTLA-4, genesregarded as genetic master switches of autoimmunity. This raises theissue of the etiology of AAU and the possibility that it should beregarded as an autoinflammatory rather than an autoimmune condition.

[学科分类] 生物化学/生物物理