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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.
- idiopathic paediatric uveitis
- polymorphism
- juvenile idiopathic arthritis associated uveitis
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Footnotes
JD, HT and JH contributed equally.
Contributors PY and JH conceived and designed the study. JD, HT, JH, QC, XH, CZ and YW prepared the samples, materials and performed the experiments. JD, JH and HT wrote the initial draft of the paper. GS, AK and PY reviewed the data analysis and edited the manuscript. All authors read and approved the manuscript.
Funding This work was supported by Natural Science Foundation Major International (Regional) Joint Research Project grant number 81720108009, Chongqing Key Laboratory of Ophthalmology grant number CSTC, 2008CA5003, and the Natural Science Foundation Project of Chongqing grant number cstc2017shmsA130073. Thanks to all donors enrolled in the present study.
Competing interests None declared.
Patient consent for publication Before participant recruitment, every investigated individual was fully informed about the study and signed an informed consent. Informed consent from the patients who were younger than 18 years was obtained from their parents or guardians.
Ethics approval Experimental procedures and research design were conducted in accordance with the tenets of the Declaration of Helsinki and received the approval from the Clinical Research Ethics Committee of the First Affiliated Hospital of Chongqing Medical University (permit No. 2009–201008).
Provenance and peer review Not commissioned; externally peer reviewed.
Data sharing statement All data relevant to the study are included in the article or uploaded as supplementary information.
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