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

doi:10.1136/bjophthalmol-2018-313200

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 journal › Article › Academic › peer-review

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 language	English
Pages (from-to)	443-447
Number of pages	5
Journal	British Journal of Ophthalmology
Volume	104
Issue number	3
DOIs	https://doi.org/10.1136/bjophthalmol-2018-313200
Publication status	Published - Feb 2020

Keywords

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

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Cite this

@article{62882e6366354cd6814905fda13bb7e0,

title = "Genetic aspects of idiopathic paediatric uveitis and juvenile idiopathic arthritis associated uveitis in Chinese Han",

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.",

keywords = "RHEUMATOID-ARTHRITIS, SUSCEPTIBILITY LOCI, POLYMORPHISMS, DISEASE, RISK, EPIDEMIOLOGY, PREVALENCE, EXPRESSION, VARIANTS, CHILDREN",

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

note = "{\textcopyright} Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.",

year = "2020",

month = feb,

doi = "10.1136/bjophthalmol-2018-313200",

language = "English",

volume = "104",

pages = "443--447",

journal = "British Journal of Ophthalmology",

issn = "0007-1161",

publisher = "BMJ Publishing Group",

number = "3",

}

TY - JOUR

T1 - Genetic aspects of idiopathic paediatric uveitis and juvenile idiopathic arthritis associated uveitis in Chinese Han

AU - Deng, Jing

AU - Tan, Handan

AU - Hu, Jiayue

AU - Su, Guannan

AU - Cao, Qingfeng

AU - Huang, Xinyue

AU - Zhou, Chunjiang

AU - Wang, Yao

AU - Kijlstra, Aize

AU - Yang, Peizeng

N1 - © Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

PY - 2020/2

Y1 - 2020/2

N2 - 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.

AB - 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.

KW - RHEUMATOID-ARTHRITIS

KW - SUSCEPTIBILITY LOCI

KW - POLYMORPHISMS

KW - DISEASE

KW - RISK

KW - EPIDEMIOLOGY

KW - PREVALENCE

KW - EXPRESSION

KW - VARIANTS

KW - CHILDREN

U2 - 10.1136/bjophthalmol-2018-313200

DO - 10.1136/bjophthalmol-2018-313200

M3 - Article

C2 - 30940621

SN - 0007-1161

VL - 104

SP - 443

EP - 447

JO - British Journal of Ophthalmology

JF - British Journal of Ophthalmology

IS - 3

ER -