Genotype-Phenotype Association Study Reveals <i>CFI</i>-Rs13104777 to be a Protective Genetic Marker Against Acute Anterior Uveitis

<p><i>Purpose</i>: To investigate the roles of <i>CFI</i>, genotype-phenotype associations were identified in AAU.</p> <p><i>Methods</i>: 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.</p> <p><i>Results</i>: A lower frequency of the <i>CFI</i>-rs13104777 C allele was found in the AAU cohort compared with the controls, and, thus, was significantly associated with AAU pathogenesis (<i>p</i> = 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.</p> <p><i>Conclusions</i>: This study has revealed a significant genetic role for <i>CFI</i>-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 <i>CFI</i> in AAU and expand our knowledge on the genetic basis of AAU.</p