الفهرس 
INTRODUCTIONOnly 14 pages are availabe for public view
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Abstract
Rheumatoid arthritis (RA) is a chronic systemic autoimmune disease affecting 0.5 -1% of the population. It is the most common inflammatory joint disease. It is characterized by joint pain and inflammation of synovial tissue that mostly lead to joint destruction and disability. The exact cause of RA is unclear, but several factors have been associated with the disease including genetic and environmental factors. Interaction between these factors leads to appearance of the clinical manifestation of the disease.
The genetic component accounts for 60% of rheumatoid arthritis pathogenesis. The Human leukocyte antigen DRB1 (HLA-DRB1) is believed to have the strongest association with RA. Recently many other genes outside the HLA region have been identified to be involved in the pathogenesis of RA. One of these genes is peptidyl arginine deiminase type 4 gene (PADI4) which is located in the short arm of chromosome number 1. It is one member of PADI gene family that codes for enzymes responsible for citrullination of arginine into citrulline. Autoantibodies directed against citrullinated proteins are specific for RA and arise early in disease course suggesting that they have a pathogenic role.
Association between PADI4 gene and RA has been reported in Japanese populations; since that many studies have been done to confirm such association. Anti-PADI 4 antibodies are recently described that they are involved in activation of the enzyme promoting RA pathogenesis.
PADI 4-89 single nucleotide polymorphism had been described to be associated with RA in some populations. However, the effect of PADI 4-89 SNP (rs11203366) on susceptibility and disease activity of RA is still under investigation.
The present study aimed to assess the association between PADI 4-89 gene single nucleotide polymorphism (rs11203366) and susceptibility and activity of RA in a cohort of Egyptian RA patients.
The study was conducted on 40 patients with RA who were consecutively recruited from Rheumatology outpatient clinic in Alexandria Main University Hospital-Egypt, and 40 age and sex matched healthy controls.
This study revealed that the PADI4-89 SNP (rs 11203366) is not associated with RA in Egyptian patients. Using 5’ nuclease assay, there was no statistically significant difference between the studied groups and controls as regards the genotype distribution of PADI 4-89 gene SNP (rs11203366) (P>0.05). The most frequent genotype was the AG genotype followed by AA genotype then the GG genotype in patients and in controls, the AA was the most prevalent genotype followed by the AG genotype then the GG genotype. The A allele was more frequent than the G allele in both patients and controls. There was no significant difference between both groups as regards allele frequency Of PADI 4-89 SNP.(P >0.05)