الفهرس يوجد فقط 14 صفحة متاحة للعرض العام
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المستخلص
Rheumatoid arthritis is a symmetric, chronic polyarticular arthritis. It primarily causes progressive joint destruction that leads to restriction of daily activities and deterioration of quality of life. Although the precise etiology of rheumatoid arthritis is unknown, autoimmunity plays a pivotal role in both its chronicity and progression, and RA is considered a systemic autoimmune disease.
It is thought to be a complex disease caused by a combination of multiple genetic and environmental factors. Previous studies have indicated a few genetic regions that might be in association with RA. Both linkage and association studies of the HLA-DRB1 gene have consistently confirmed that it is the major genetic susceptibility locus for RA. As such, it provides an important clue to pathogenesis. Using a candidate gene approach, Begovich et al reported that the minor allele (T) at nucleotide 1858 of PTPN22 confers a predisposition to rheumatoid arthritis.
The PTPN22 gene encodes a cytoplasmic protein tyrosine phosphatase that consists of an N-terminal phosphatase domain and a long C-terminal region. Lyp is an intracellular PTP and physically bound to the SH3 domain of the C-terminal Src tyrosine kinase (Csk) (negative regulatory kinase), which is an important suppressor of kinases that mediate T-cell activation . The PTPN22 1858C->T SNP changes the amino acid at position 620 from an arginine (R) to a tryptophan (W) and disrupts the interaction with Csk, potentially altering these proteins’ normal function as negative regulators of T-cell activation, suggesting that T-cells expressing the T-allele may be hyper- responsive, and consequently, individuals carrying this allele may be prone to autoimmunity .
This study aims to detect the association of single-nucleotide polymorphism (SNP) of protien tyrosine phosphatase non-receptor type 22 (PTPN 22) gene with rheumatoid arthritis and with clinical outcome measure reflecting diseaese severity in a sample of Egyptian patients.
The study was carried out on:
40 patients with definit RA.
20 age and sex matched healthy volunteers to serve as controls.
All patients were subjected to the following:
1. Thorough personal and family history taking followed by clinical examination.
• Physical disability assessed by the Health Assessment Questionnaire (HAQ).
• Disease activity measured by DAS28.
2. Laboratory investigations including:
• Complete blood picture.
• Fasting blood glucose.
• Anti-cyclic citrullinated peptide (anti-CCP).
• Serum rheumatoid factor.
• C-reactive protein.
• Erythrocyte sedimentation rate.
3. Detection of protein tyrosine phosphatase non-receptor type 22 SNP using 5` nuclease assay.
In the present study there were a significant association between the studied parameters such as RF, CRP, ESR, Anti-CCP and RA, while there were no statistical differences observed between the CC and CT genotypes as regards all the studied parameters, DAS 28 & HAQ.
In the present study statistical analysis was performed for carriers versus non carriers of the T allele, there were no statistical differences observed between the two groups as regards all the studied biochemical parameters, also there were no statistical differences observed between the CC and CT genotypes as regards DAS 28 & HAQ.
There was a significant association