Genetisk variation av betydelse för adenosinsignalering vid nydebuterad reumatoid artrit
Sammanfattning: Rheumatoid arthritis is an autoimmune disease, where joints are attacked by the own immune system, leading to chronic inflammation and destruction of bone and cartilage. Inflammation is a complex process, controlled by many different substances. One of them is adenosine, which has anti-inflammatory properties. In this project, three polymorphisms in different genes, involved in synthesis and signaling of adenosine, were genotyped for 188 patients with RA and 362 controls without RA. The results shows that for the polymorphism in A2a, a gene coding for an adenosine receptor, there was no significant difference in genotype distribution between the groups. There were, however, some differences in the general sensation of pain and well-being reported by the patients. For the polymorphism in NT5E, a gene coding for a nucleotidase for extracellular adenosine synthesis, there were differences both regarding genotype distribution between the groups, and in the progression of the disease. The NT5E-AA genotype seems to increase inflammation, but decrease the number of tender joints. In the case of the polymorphism in ADA, which codes for adenosine deaminase, the minor allele frequency was too low for any conclusions to be made. An attempt was made to analyze the gene polymorphisms in relation to drinking habits, but the population was too small to generate any reliable conclusions. The project shows that the polymorphism in NT5E, whose functional consequences are yet unknown, might have an effect on the extracellular adenosin synthesis and RA pathogenesis. Further studies are required to shed more light on this matter.
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