Polymorphisms of the eNOS gene are associated with disease activity in rheumatoid arthritis

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• 作者：Vera Bunjevacki ; Nela Maksimovic ; Biljana Jekic ; Vera Milic…
• 关键词：Rheumatoid arthritis ; eNOS ; Genetic polymorphisms ; Disease activity
• 刊名：Rheumatology International
• 出版年：2016
• 出版时间：April 2016
• 年：2016
• 卷：36
• 期：4
• 页码：597-602
• 全文大小：403 KB
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• 作者单位：Vera Bunjevacki (1)
  Nela Maksimovic (1)
  Biljana Jekic (1)
  Vera Milic (2)
  Ljiljana Lukovic (1)
  Ivana Novakovic (1)
  Nemanja Damjanov (2)
  Goran Radunovic (2)
  Tatjana Damnjanovic (1)
  
  1. Faculty of Medicine, Institute of Human Genetics, University of Belgrade, 26 Visegradska Str., Belgrade, 11000, Serbia
  2. Faculty of Medicine, Institute of Rheumatology, University of Belgrade, Resavska 69 Str., Belgrade, Serbia
  
• 刊物主题：Rheumatology;
• 出版者：Springer Berlin Heidelberg
• ISSN：1437-160X

文摘

Nitric oxide (NO) is a mediator in autoimmune responses and thus involved in the pathogenesis of a variety of rheumatic diseases. Genetic factors that influence the expression of the enzyme endothelial nitric oxide synthase (eNOS) that catalyzes NO synthesis are important for the control of NO level and consequently its activity. We have analyzed three functionally relevant polymorphisms of eNOS gene: T-786C, G894T and VNTR (4a/b), to investigate whether they are predisposing factors in pathogenesis of RA in Serbian population and to evaluate their role in clinical manifestations of RA. We performed genotyping of 196 patients with RA and the control group of 132 healthy individuals from Serbian population, using PCR and polymerase chain reaction–restriction fragment length polymorphism methods. Disease activity was prospectively assessed using number of tender joints, number of swollen joints and 28-joints disease activity score (DAS28). There were no differences between the patients and control groups in the genotypes and alleles frequencies of the three analyzed SNPs. Our results showed statistically significant differences in all three analyzed parameters of disease severity between 786TT/786CT and 786CC genotypes and between 894GG/894GT and 894TT genotypes. In the case of 4a/b polymorphism, carriers of minor allele had significantly lower DAS28 values. In conclusion, our results do not support the implication of analyzed eNOS gene polymorphisms in susceptibility to RA but associate them with the disease activity and give assumption that minor alleles are indicators of better clinical course.