Abstract
ntroduction. Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease of children,
and the pathogenesis of JIA has not been fully explored. It is known that TNF-α coding gene TNF single
nucleotide polymorphisms (SNP) in −308A/G, −238A/G and −244A/A positions may affect TNF-α levels in the blood [Rudwaleit, et al., 2001], which in JIA patients correlates with disease activity [David,
et al., 1990]. There are still conflicting data on the impact of SNPs on the development of JIA, disease
course, prognosis and treatment efficacy [Ozen, et al., 2002; Mourão, et al., 2009].
Aim. The aim of the respective study is to assess the potential of TNF gene polymorphism
association with JIA type and disease course.
Material and methods. The study included 92 JIA patients and 40 healthy control individuals.
Genotyping was performed using real-time polymerase chain reaction (RT-PCR). Genotype distribution
comparison between JIA types and control groups was done using the Pearson, chi-square test or
Fisher’s test.
Results. Our study findings confirm the role of TNF gene polymorphisms in the pathogenesis of
JIA. Polymorphism -308A/G possibly has a protective role in seropositive and seronegative polyarthritis,
persisted oligoarthritis and enthesitis related arthritis development. Polymorphism -244A/A could
have protective role in the development of JIA, but no connection with any particular JIA type has been
identified. No association between the SNPs and the disease assessment criteria was found.
Conclusions. The obtained data confirm the role of TNF gene polymorphisms in the pathogenesis
of JIA. Genotype -308A/G may have a protective role in development of seropositive and seronegative
polyarthritis, persisted oligoarthritis and with enthesitis related arthritis, and genotype -244AA possibly
has a protective role in the development of JIA. We found no statistically significant association with any
of the disease activity criteria and polymorphisms in -308A/G, -238A/G and -244AA positions. Further
studies are required for more accurate data on the role of TNF gene polymorphisms in JIA pathogenesis.
and the pathogenesis of JIA has not been fully explored. It is known that TNF-α coding gene TNF single
nucleotide polymorphisms (SNP) in −308A/G, −238A/G and −244A/A positions may affect TNF-α levels in the blood [Rudwaleit, et al., 2001], which in JIA patients correlates with disease activity [David,
et al., 1990]. There are still conflicting data on the impact of SNPs on the development of JIA, disease
course, prognosis and treatment efficacy [Ozen, et al., 2002; Mourão, et al., 2009].
Aim. The aim of the respective study is to assess the potential of TNF gene polymorphism
association with JIA type and disease course.
Material and methods. The study included 92 JIA patients and 40 healthy control individuals.
Genotyping was performed using real-time polymerase chain reaction (RT-PCR). Genotype distribution
comparison between JIA types and control groups was done using the Pearson, chi-square test or
Fisher’s test.
Results. Our study findings confirm the role of TNF gene polymorphisms in the pathogenesis of
JIA. Polymorphism -308A/G possibly has a protective role in seropositive and seronegative polyarthritis,
persisted oligoarthritis and enthesitis related arthritis development. Polymorphism -244A/A could
have protective role in the development of JIA, but no connection with any particular JIA type has been
identified. No association between the SNPs and the disease assessment criteria was found.
Conclusions. The obtained data confirm the role of TNF gene polymorphisms in the pathogenesis
of JIA. Genotype -308A/G may have a protective role in development of seropositive and seronegative
polyarthritis, persisted oligoarthritis and with enthesitis related arthritis, and genotype -244AA possibly
has a protective role in the development of JIA. We found no statistically significant association with any
of the disease activity criteria and polymorphisms in -308A/G, -238A/G and -244AA positions. Further
studies are required for more accurate data on the role of TNF gene polymorphisms in JIA pathogenesis.
| Translated title of the contribution | TNF-α Gene Polymorphism in Juvenile Idiopathic Arthritis Patients and Its Association with Disease Course |
|---|---|
| Original language | Latvian |
| Title of host publication | Rīgas Stradiņa universitātes Zinātniskie raksti |
| Subtitle of host publication | 2013. gada medicīnas nozares pētnieciskā darba publikācijas |
| Place of Publication | Rīga |
| Publisher | Rīgas Stradiņa universitāte |
| Pages | 325-329 |
| ISBN (Print) | 978-9984-793-56-6 |
| Publication status | Published - 2014 |
Keywords*
- TNF polymorphism
- juvenile idiopathic arthritis (JIA)
Field of Science*
- 3.2 Clinical medicine
Publication Type*
- 3.2. Articles or chapters in other proceedings other than those included in 3.1., with an ISBN or ISSN code