Supplementary Material for: Meta-analysis of the genetic association between PTPN22, CTLA-4 variants and risk of uveitis

Background: Though the risk of PTPN22, CTLA-4 genetic variants with uveitis have been developed, the combined results still remain uncertain and controversial. Objectives: To perform a meta-analysis to estimate the precise association of PTPN22 (rs2488457, rs2476601) and CTLA-4 (rs231775, rs5742909, rs4553808, and rs3087243) polymorphisms with uveitis susceptibility. Method: Five electronic databases (PubMed, Embase, Web of Science, CBM, CNKI) were systematically searched for relevant literature up to July 20, 2021. All statistical analysis were evaluated by STATA 12.0 software and R programming language. Results: Our meta-results indicated that PTPN22 rs2488457 conferred positive susceptibility to uveitis (OR=1.18, 95%CI=1.02-1.38, p=0.029). In stratified analysis by ethnicity, rs2488457 C allele had a growing tendency towards uveitis in Asian region (OR=1.21, 95%CI=1.00-1.45, p=0.046). For CTLA-4 rs231775, subgroup analysis based on ethnicity manifested a negative association among uveitis individuals in Africa region (OR=0.25, 95%CI=0.19-0.33, p<0.001). For CTLA-4 rs4553808, subgroup analysis by disease type revealed that GG genotype was associated with an elevated risk of Behcet's disease (OR=3.22, 95%CI=1.05-9.90, p=0.042). Conclusions: Our research revealed that PTPN22 rs2488457 conferred strong susceptibility to uveitis in general, especially in Asian region. CTLA-4 rs231775 conveyed protection against uveitis in African populations and CTLA-4 rs4553808 displayed an increased risk of Behcet's disease.