Genetic susceptibility to juvenile idiopathic arthritis in the Belarusian population: gene-gene interactions analysis
| Autor: | H. A. Yatskiu, Nataliya V. Nikitchenko, R. I. Goncharova, Alexander V. Sukalo, Tatyana D. Kuzhir, A. M. Tchitchko, Nataliya V. Savina |
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| Rok vydání: | 2019 |
| Předmět: |
musculoskeletal diseases
0301 basic medicine Candidate gene education.field_of_study Oligoarthritis Ecology Multifactor dimensionality reduction Population Single-nucleotide polymorphism Biology medicine.disease Biochemistry 03 medical and health sciences 030104 developmental biology 0302 clinical medicine 030220 oncology & carcinogenesis Immunology Genetics Genetic predisposition medicine Polyarthritis education Genetics (clinical) Ecology Evolution Behavior and Systematics SNP array |
| Zdroj: | Ecological genetics. 17:65-76 |
| ISSN: | 2411-9202 1811-0932 |
| DOI: | 10.17816/ecogen17465-76 |
| Popis: | Background. GWASs revealed a huge amount of candidate genes for juvenile idiopathic arthritis (JIA) susceptibility. Individual SNP analysis has restrictions as an effect of each substitution may be too subtle to be detected but their interactions may significantly contribute to disease susceptibility. Materials and methods. 118 patients diagnosed with JIA and 202 controls were included into the study. The study was aimed to estimate interactions between SNPs of the immune and inflammatory responses genes: RUNX3 (rs11249215), RUNX1 (rs9979383), STAT4 (rs7574865), TRAF1/C5 (rs3761847), MIF (rs755622), CTLA4 (rs5742909, rs231775), PTPN2 (rs2542151) and to reveal their effects on the JIA susceptibility. SNPs were genotyped using PCR-RFLP and Real-time PCR. Multifactor dimensionality reduction analysis was performed using MDR 3.0.2 software. Results. RUNX3 , STAT4 and PTPN2 polymorphisms were associated with systemic arthritis, RF- polyarthritis and oligoarthritis respectively. Interaction of CTLA4 (rs5742909, rs231775), TRAF1/C5 (rs3761847), RUNX1 (rs9979383), PTPN2 (rs2542151) SNPs is shown to be a risk factor for JIA ( p = 0.0099). Conclusion. Some of the SNPs studied are associated with distinct JIA subtypes. MDR analysis identified a statistically significant high-order interaction of five polymorphisms which collectively may contribute to JIA genetic susceptibility in the Belarusian population. |
| Databáze: | OpenAIRE |
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