Association of T-Bet, GATA-3, RORC, and FOXP3 Copy Number Variations With Acute Anterior Uveitis With or Without Ankylosing Spondylitis in Chinese Han

Lin Bai, Yunjia Liu, Shengping Hou, Dan Liao, Aize Kijlstra, Peizeng Yang*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

8 Citations (Web of Science)


PURPOSE. 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 x 10(-5); odds ratio [OR] = 2.0 and P-corr = 1.2 x 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 x 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 (Pcorr) = 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.
Original languageEnglish
Pages (from-to)1847-1852
JournalInvestigative Ophthalmology & Visual Science
Issue number4
Publication statusPublished - Apr 2016


  • acute anterior uveitis
  • ankylosing spondylitis
  • copy number variation
  • transcription factor
  • T-bet
  • GATA-3
  • RORC
  • FOXP3

Cite this