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Abstract Number: 382

Tumor Necrosis Factor-α -308 a/G Gene Polymorphism in Children with Juvenile Idiopathic Arthritis: Relation to Disease Activity, Damage and Disability

Tamer Gheita1, Iman El Gazzar2, Hanan Fathy3, Abeer Nour El-Din4, Enas Abdel Rasheed5, Rasha Bassyouni6 and Sanaa Kenawy7, 1Rheumatology, Rheumatology Department, Faculty of Medicine, Cairo University, Egypt, Cairo, Egypt, 2Rheumatology, Rheumatology Department, Faculty of Medicine, Cairo University, Cairo, Egypt, 3Rheumatology, Rheumatology Department, Faculty of Medicine, Fayoum University, Fayoum, Egypt, 4Pediatric Department, National Research Centre, Dokki, Egypt, Giza, Egypt, 5Clinical Pathology Department, National Research Centre, Dokki, Egypt, Giza, Egypt, 6Medical Microbiology and Immunology Department, Faculty of Medicine, Fayoum University, Fayoum, Egypt, 7Pharmacology, Pharmacology Department, Faculty of Pharmacy, Cairo University, Cairo, Egypt

Meeting: 2016 ACR/ARHP Annual Meeting

Date of first publication: September 28, 2016

Keywords: Disease Activity, functional status, Gene Expression, juvenile arthritis and polymorphism

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Session Information

Date: Sunday, November 13, 2016

Title: Pediatric Rheumatology – Clinical and Therapeutic Aspects - Poster I: Juvenile Idiopathic Arthritis, Uveitis

Session Type: ACR Poster Session A

Session Time: 9:00AM-11:00AM

Background/Purpose: Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease of childhood and an important cause of disability. Its cause remains unknown, but likely includes complex interactions between genes and environmental exposures resulting in dysregulation of the immune system. TNF-α is a cytokine with an important role in inflammation and immune function. Several single nucleotide polymorphisms (SNPs) have been identified within the region of the TNF-α gene but only very small minority have proven functional consequences and were associated with JIA susceptibility.  The aim of this work was to evaluate the clinical significance of serum levels of tumor necrosis factor alpha (TNFα) and -308 A/G promoter polymorphism in JIA patients and find any association to the subsets, clinical and laboratory features, disease activity and damage as well as functional disability.

Methods: Forty-eight JIA children and 30 controls were included in the present study. Juvenile arthritis disease activity score in 27 joints (JADAS-27) was calculated, juvenile arthritis damage index (JADI) assessed and Childhood Health Assessment Questionnaire (CHAQ) to measure the functional status. Serum TNF-α was assayed by ELISA and gene (-308) promoter polymorphism determined by polymerase chain reaction.

Results: The 48 JIA children (mean age: 11.5±2.8 years) were 13 systemic, 17 oligoarticular and 18 polyarticular onset. The serum TNF-α was significantly higher in patients (90.4±6.3 ng/ml) compared to control (3.5±2.6 ng/ml) (p<0.0001) with a tendency to be higher in the polyarticular subtype. All controls had TNF-α -308GG alleles. The frequency of GG genotype tended to be higher in systemic onset compared to oligoarticular and polyarticular subtypes. The serum TNF-α significantly correlated with JADAS-27 (r=0.32,p=0.03) and CHAQ (r=0.37,p=0.01) and negatively with the presence of GG alleles (r=-0.48,p=0.001). The GG alleles were significantly negatively associated with C-reactive protein (r=-0.32,p=0.03) with a tendency to negatively correlate with JADAS-27, CHAQ and JADI-extrarticular (r=-0.28,p=0.06; r=-0.25,p=0.09 and r=-0.25,p=0.09 respectively).

Conclusion: There is evidence of a possible influence of the −308 SNP promoter position on the production of TNF-α, the severity of JIA which may consequently influence the response to anti-TNF-α treatment.


Disclosure: T. Gheita, None; I. El Gazzar, None; H. Fathy, None; A. Nour El-Din, None; E. Abdel Rasheed, None; R. Bassyouni, None; S. Kenawy, None.

To cite this abstract in AMA style:

Gheita T, El Gazzar I, Fathy H, Nour El-Din A, Abdel Rasheed E, Bassyouni R, Kenawy S. Tumor Necrosis Factor-α -308 a/G Gene Polymorphism in Children with Juvenile Idiopathic Arthritis: Relation to Disease Activity, Damage and Disability [abstract]. Arthritis Rheumatol. 2016; 68 (suppl 10). https://acrabstracts.org/abstract/tumor-necrosis-factor-%ce%b1-308-ag-gene-polymorphism-in-children-with-juvenile-idiopathic-arthritis-relation-to-disease-activity-damage-and-disability/. Accessed .
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