title: Association of T-Bet, GATA-3, RORC, and FOXP3 Copy Number Variations With Acute Anterior Uveitis With or Without Ankylosing Spondylitis in Chinese Han.
abstract: OBJECTIVE
  Acute anterior uveitis (AAU) is the most common form of uveitis and is a frequent ocular manifestation of ankylosing spondylitis (AS). Thymocyte CD4+ cells have been reported to play an important role in the pathogenesis of both AAU and AS. To test whether the copy number variations (CNVs) of CD4+ T cell transcription factor genes including T-bet, GATA binding protein 3 (GATA)-3, related orphan receptor C (RORC) and forkhead box protein 3 (FOXP3) are associated with acute anterior uveitis either in the presence or absence of ankylosing spondylitis (AAU+AS+; AAU+AS-).
  
  
  METHODS
  The study included 676 patients with AAU, including 298 patients with AAU+AS+, 378 patients with AAU+AS-, and 596 unrelated healthy controls in a Chinese Han population. Copy number variations were examined by real-time PCR.
  
  
  RESULTS
  The frequency of a high copy number (CN) of T-bet was increased in AAU+AS+ as well as AAU+AS- patients when compared with controls (P value after Bonferroni correction [P(corr)] = 4.3 × 10(-5); odds ratio [OR] = 2.0 and P(corr) = 1.2 × 10(-8); OR = 2.3, respectively). The frequency of a high CN of GATA-3 was significantly higher in AAU+AS+ patients than in controls (P(corr) = 1.8 × 10(-7); OR = 4.9). A higher frequency of CN of FOXP3 was found in female AAU+AS+ patients and female AAU+AS- patients (P(corr) = 0.005, OR = 5.9 and P(corr) = 0.004, OR = 4.9, respectively ). No association was found between CNVs of RORC and AAU+AS- or AAU+AS+ patients.
  
  
  CONCLUSIONS
  A high copy number of T-bet and GATA-3 confers susceptibility to AAU and AS, and a high copy number of FOXP3 confers susceptibility to female patients with AAU either with or without AS.
authors.affiliation: The First Affiliated Hospital of Chongqing Medical University Chongqing Key Laboratory of Ophthalmology, and Chongqing Eye Institute, Chongqing, People's Republic of China.
authors.forename: Lin
authors.initials: L
authors.lastname: Bai
authors.affiliation: The First Affiliated Hospital of Chongqing Medical University Chongqing Key Laboratory of Ophthalmology, and Chongqing Eye Institute, Chongqing, People's Republic of China.
authors.forename: Yunjia
authors.initials: Y
authors.lastname: Liu
authors.affiliation: The First Affiliated Hospital of Chongqing Medical University Chongqing Key Laboratory of Ophthalmology, and Chongqing Eye Institute, Chongqing, People's Republic of China.
authors.forename: Shengping
authors.initials: S
authors.lastname: Hou
authors.affiliation: The First Affiliated Hospital of Chongqing Medical University Chongqing Key Laboratory of Ophthalmology, and Chongqing Eye Institute, Chongqing, People's Republic of China.
authors.forename: Dan
authors.initials: D
authors.lastname: Liao
authors.affiliation: University Eye Clinic Maastricht, Maastricht, The Netherlands.
authors.forename: Aize
authors.initials: A
authors.lastname: Kijlstra
authors.affiliation: The First Affiliated Hospital of Chongqing Medical University Chongqing Key Laboratory of Ophthalmology, and Chongqing Eye Institute, Chongqing, People's Republic of China.
authors.forename: Peizeng
authors.initials: P
authors.lastname: Yang
mesh_terms: D000208:Acute Disease; D000328:Adult; D015704:CD4 Antigens / Q000276:immunology; D002681:China / Q000453:epidemiology; D004247:DNA / Q000235:genetics; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D051858:Forkhead Transcription Factors / Q000096:biosynthesis / Q000235:genetics*; D050990:GATA3 Transcription Factor / Q000096:biosynthesis / Q000235:genetics*; D005786:Gene Expression Regulation; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D057132:Nuclear Receptor Subfamily 1, Group F, Member 3 / Q000096:biosynthesis / Q000235:genetics*; D015995:Prevalence; D060888:Real-Time Polymerase Chain Reaction; D012189:Retrospective Studies; D013167:Spondylitis, Ankylosing / Q000150:complications* / Q000208:ethnology / Q000235:genetics; D020825:T-Box Domain Proteins / Q000096:biosynthesis / Q000235:genetics*; D060168:Thymocytes / Q000276:immunology; D014606:Uveitis, Anterior / Q000208:ethnology / Q000209:etiology / Q000235:genetics*; D000098815:T-bet Transcription Factor
chemical_list: D015704:CD4 Antigens; C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors; D050990:GATA3 Transcription Factor; C494749:GATA3 protein, human; D057132:Nuclear Receptor Subfamily 1, Group F, Member 3; C539900:RORC protein, human; D020825:T-Box Domain Proteins; D000098815:T-bet Transcription Factor; D004247:DNA