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

• Published in: Ocular immunology and inflammation Vol. 26; no. 1; pp. 51 - 56
• Main Authors: Huang, Xiu-Feng, Lin, Dan, Lin, Keng-Hung, Lee, Shi-Huang, Xia, Xiaoru, Yang, Yi-Mai, Zhu, Xue-Fei, Wang, Yu-Lin, Dai, Ma-Li, Wang, Qing-Feng, Jin, Zi-Bing, Wang, Yuqin
• Format: Journal Article
• Language: English
• Published: England Taylor & Francis 02.01.2018
• Subjects: Acute anterior uveitis; Acute Disease; Adult; association analysis; Case-Control Studies; CFI; Complement Factor I - genetics; Female; Gene Frequency; Genetic Association Studies; Genetic Markers - genetics; genotype-phenotype association; Genotyping Techniques; HLA-B27 Antigen - genetics; Humans; Male; Middle Aged; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; polymorphisms; Uveitis, Anterior - genetics; genotype-phenotype association; association analysis; polymorphisms; Acute anterior uveitis; CFI
• ISSN: 0927-3948; 1744-5078; 1744-5078
• DOI: 10.1080/09273948.2016.1178305

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.