Genetic aspects of idiopathic paediatric uveitis and juvenile idiopathic arthritis associated uveitis in Chinese Han

Jing Deng, Handan Tan, Jiayue Hu, Guannan Su, Qingfeng Cao, Xinyue Huang, Chunjiang Zhou, Yao Wang, Aize Kijlstra, Peizeng Yang*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

2 Citations (Web of Science)

Abstract

BACKGROUND: Idiopathic paediatric uveitis (IPU) and juvenile idiopathic arthritis associated uveitis (JIA-U) are the two most common entities in paediatric uveitis. This study addressed the possible association of IPU and JIA-U with genes that had been shown earlier to be associated with juvenile idiopathic arthritis.

METHODS: We carried out a case-control association study involving 286 IPU, 134 JIA-U patients and 743 healthy individuals. A total of 84 candidate single nucleotide polymorphisms (SNPs) in 60 genes were selected for this study. The MassARRAY platform and iPLEX Gold Genotyping Assay was used to genotype 83 candidate SNPs and the remaining SNP (rs27293) was analysed using the TaqMan SNP Genotyping Assay.

RESULTS: No evidence was found for an association of the candidate polymorphisms tested with IPU. Six SNPs (PRM1/rs11074967, JAZF1/rs73300638, IRF5/rs2004640, MEFV/rs224217, PSMA3/rs2348071 and PTPN2/rs7234029) showed an association with JIA-U (p<1.0×10-2).

CONCLUSION: Our findings showed associations of six SNPs (PRM1/rs11074967, JAZF1/rs73300638, IRF5/rs2004640, MEFV/rs224217, PSMA3/rs2348071 and PTPN2/rs7234029) with JIA-U. No association was detected between the 84 tested SNPs and IPU.

Original languageEnglish
Pages (from-to)443-447
Number of pages5
JournalBritish Journal of Ophthalmology
Volume104
Issue number3
DOIs
Publication statusPublished - Feb 2020

Keywords

  • RHEUMATOID-ARTHRITIS
  • SUSCEPTIBILITY LOCI
  • POLYMORPHISMS
  • DISEASE
  • RISK
  • EPIDEMIOLOGY
  • PREVALENCE
  • EXPRESSION
  • VARIANTS
  • CHILDREN

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