title: Genotype-Phenotype Association Study Reveals CFI-Rs13104777 to be a Protective Genetic Marker Against Acute Anterior Uveitis.
abstract: OBJECTIVE
  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.
authors.affiliation: a The Eye Hospital of Wenzhou Medical University, the State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health , Wenzhou , China.
authors.forename: Xiu-Feng
authors.initials: XF
authors.lastname: Huang
authors.affiliation: a The Eye Hospital of Wenzhou Medical University, the State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health , Wenzhou , China.
authors.forename: Dan
authors.initials: D
authors.lastname: Lin
authors.affiliation: b Department of Ophthalmology , Taichung Veterans General Hospital, National Yang-Ming University , Taichung , Taiwan , China.
authors.forename: Keng-Hung
authors.initials: KH
authors.lastname: Lin
authors.affiliation: b Department of Ophthalmology , Taichung Veterans General Hospital, National Yang-Ming University , Taichung , Taiwan , China.
authors.forename: Shi-Huang
authors.initials: SH
authors.lastname: Lee
authors.affiliation: c Department of Rheumatology , The First Affiliated Hospital of Wenzhou Medical University , Wenzhou , China.
authors.forename: Xiaoru
authors.initials: X
authors.lastname: Xia
authors.affiliation: d Wenzhou People's Hospital, Wenzhou Physical Examination Center.
authors.forename: Yi-Mai
authors.initials: YM
authors.lastname: Yang
authors.affiliation: e Department of Ophthalmology , The First Affiliated Hospital of Soochow University.
authors.forename: Xue-Fei
authors.initials: XF
authors.lastname: Zhu
authors.affiliation: f The department of ophthalmology , The First Affiliated Hospital of Nanchang University , Nanchang , China.
authors.forename: Yu-Lin
authors.initials: YL
authors.lastname: Wang
authors.affiliation: a The Eye Hospital of Wenzhou Medical University, the State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health , Wenzhou , China.
authors.forename: Ma-Li
authors.initials: ML
authors.lastname: Dai
authors.affiliation: a The Eye Hospital of Wenzhou Medical University, the State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health , Wenzhou , China.
authors.forename: Qing-Feng
authors.initials: QF
authors.lastname: Wang
authors.affiliation: a The Eye Hospital of Wenzhou Medical University, the State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health , Wenzhou , China.
authors.forename: Zi-Bing
authors.initials: ZB
authors.lastname: Jin
authors.affiliation: a The Eye Hospital of Wenzhou Medical University, the State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health , Wenzhou , China.
authors.forename: Yuqin
authors.initials: Y
authors.lastname: Wang
mesh_terms: D000208:Acute Disease; D000328:Adult; D016022:Case-Control Studies; D017244:Complement Factor I / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005819:Genetic Markers / Q000235:genetics*; D060005:Genotyping Techniques; D015796:HLA-B27 Antigen / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D014606:Uveitis, Anterior / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D015796:HLA-B27 Antigen; C493611:CFI protein, human; D017244:Complement Factor I
keywords: Acute anterior uveitis; CFI; association analysis; genotype-phenotype association; polymorphisms