Related Experiment Video
Updated: Dec 26, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
PADI4 (rs2240340), PDCD1 (rs10204525), and CTLA4 (231775) gene polymorphisms and polyarticular juvenile idiopathic
M A Ali1, A Abdelaziz2, M Ali2
1Department of Medical Biochemistry and Molecular Biology, Faculty of Medicine, Fayoum University , Fayoum, Egypt.
Background:
Certain single nucleotide polymorphisms (SNPs) in genes such as PADI4 (coding for peptidyl arginine deiminase 4), PDCD1 (coding for programmed cell death 1), and CTLA4 (coding for cytotoxic T-lymphocyte-associated protein 4) are linked to rheumatoid arthritis (RA). However, links between SNPs rs2240340, rs10204525 and rs231775 in PADI4, PDCD1 and CTLA4 respectively, and juvenile idiopathic arthritis (JIA), the commonest type of childhood arthritis, are unclear. We aimed to determine whether any of these SNPs are associated with JIA, and to clinical indices disease activity score (JADAS 71) and functional disability score (CHAQ).
Methods:
We genotyped the three SNPs in 150 children with polyarticular JIA and 160 healthy children, recording standard health questionnaires, clinical features and laboratory markers.
Results:
The TT genotype of PADI4 rs2240340 (aOR/95%CI 2.64: 1.31-5.30, P = 0.006) and CT genotype of PDCD1 rs10204525 (aOR/95%CI 4.99: 2.98-8.36, P < 0.0001) were associated with JIA. The AG+GG genotype of CTLA4 rs231175 was modestly linked to disease activity (aOR/95%CI 2.44 (1.19-5.04), p = 0.015). PADI4 rs2240340 was linked to CHAQ score (genotypes p = 0.013, alleles p = 0.006), whilst PDCD1 rs10204525 was linked to anti-CCP antibodies (genotypes p = 0.004), RF (genotypes p = 0.01), and the CHAQ score (genotypes p = 0.005, alleles p = 0.013).
Conclusions:
There are various roles for these SNPs in PADI4, CTLA4 and PDCD1 in the diagnosis and, potentially, in the management of JIA.
More Related Videos
07:26High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
Published on: July 18, 2017
11:35Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
Published on: August 21, 2016
Related Concept Videos
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Single Nucleotide Polymorphisms-SNPs
Pleiotropy
Incomplete Dominance