Purpose: To investigate the roles of CFI, genotype-phenotype associations were identified in AAU.
Methods: A case-control study was conducted in a total of 575 subjects consisting of 279 AAU patients and 296 healthy controls. Genotypic analyses were performed using Sequenom MassARRAY technology. Analyses were stratified to a series of clinical ophthalmic confounding factors.
Results: A lower frequency of the CFI-rs13104777 C allele was found in the AAU cohort compared with the controls, and, thus, was significantly associated with AAU pathogenesis (p = 0.041, OR = 0.712, 95% CI: 0.513-0.987). Stratified analysis also demonstrated the associations may differ depending on the HLA-B27 status and laterality status.
Conclusions: This study has revealed a significant genetic role for CFI-rs13104777 in AAU. This influence may be dependent on human leukocyte antigen (HLA)-B27 and disease laterality. Overall, the results provide evidence for a pathogenic role for CFI in AAU and expand our knowledge on the genetic basis of AAU.
Keywords: Acute anterior uveitis; CFI; association analysis; genotype-phenotype association; polymorphisms.