Association of <i>ERAP1</i> and <i>IL23R</i> gene polymorphisms with ankylosing spondylitis
Currently, the causes of extra-axial and extra-skeletal manifestations of ankylosing spondylitis (AS) and the possible impact of genetic aspects on its course and clinical features remain unresolved.Objective: to investigate the association of the polymorphic markers rs10050860 and rs17482078 in the...
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| Format: | Article |
| Language: | Russian |
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IMA-PRESS LLC
2020-09-01
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| Series: | Современная ревматология |
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| Online Access: | https://mrj.ima-press.net/mrj/article/view/1044 |
| _version_ | 1797876723831799808 |
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| author | U. A. Yakubova O. V. Bugrova K. A. Nagornova |
| author_facet | U. A. Yakubova O. V. Bugrova K. A. Nagornova |
| author_sort | U. A. Yakubova |
| collection | DOAJ |
| description | Currently, the causes of extra-axial and extra-skeletal manifestations of ankylosing spondylitis (AS) and the possible impact of genetic aspects on its course and clinical features remain unresolved.Objective: to investigate the association of the polymorphic markers rs10050860 and rs17482078 in the ERAP1 gene and rs11209026 in the IL23R gene with the development and clinical manifestations of AS.Patients and methods. An allele-specific polymerase chain reaction assay was carried out to assess the alleles and corresponding genotypes of ERAP1 and IL23R gene polymorphisms in 70 patients (49 men and 21 women; mean age, 38 [31; 49] years) with AS and in 20 healthy donors. The activity indices, ESR, CRP, and extra-axial and extra-skeletal manifestations of AS were assessed in patients at the time of the investigation and in their history.Results and discussion. The results of genotyping showed a significant association of the studied markers with AS. The carriage of the C/T genotype of the polymorphic markers rs10050860 and rs17482078 in the ERAP1 gene was associated with the history of peripheral arthritis (p=0.029) and the presence of incomplete right bundle branch block (IRBBB) (p=0.003 and p=0.006); the carriage of the G/A genotype of the marker rs11209026 in the IL23R gene was significantly associated with psoriasis (p=0.017) and IRBBB (p=0.03) in patients with AS.Conclusion. The polymorphic markers of the ERAP1 and IL23R genes are associated with the risk of developing AS in this sample of patients. There is a significant correlation between the studied polymorphisms and some clinical manifestations of AS, which can be considered as a predictor of a more severe disease course. |
| first_indexed | 2024-04-10T02:05:58Z |
| format | Article |
| id | doaj.art-0cf4c88613ce4b00bdad06007406e6cc |
| institution | Directory Open Access Journal |
| issn | 1996-7012 2310-158X |
| language | Russian |
| last_indexed | 2024-04-10T02:05:58Z |
| publishDate | 2020-09-01 |
| publisher | IMA-PRESS LLC |
| record_format | Article |
| series | Современная ревматология |
| spelling | doaj.art-0cf4c88613ce4b00bdad06007406e6cc2023-03-13T08:39:27ZrusIMA-PRESS LLCСовременная ревматология1996-70122310-158X2020-09-01143394410.14412/1996-7012-2020-3-39-442277Association of <i>ERAP1</i> and <i>IL23R</i> gene polymorphisms with ankylosing spondylitisU. A. Yakubova0O. V. Bugrova1K. A. Nagornova2ФГБОУ ВО «Оренбургский государственный медицинский университет» Минздрава РоссииФГБОУ ВО «Оренбургский государственный медицинский университет» Минздрава РоссииФГБОУ ВО «Оренбургский государственный медицинский университет» Минздрава РоссииCurrently, the causes of extra-axial and extra-skeletal manifestations of ankylosing spondylitis (AS) and the possible impact of genetic aspects on its course and clinical features remain unresolved.Objective: to investigate the association of the polymorphic markers rs10050860 and rs17482078 in the ERAP1 gene and rs11209026 in the IL23R gene with the development and clinical manifestations of AS.Patients and methods. An allele-specific polymerase chain reaction assay was carried out to assess the alleles and corresponding genotypes of ERAP1 and IL23R gene polymorphisms in 70 patients (49 men and 21 women; mean age, 38 [31; 49] years) with AS and in 20 healthy donors. The activity indices, ESR, CRP, and extra-axial and extra-skeletal manifestations of AS were assessed in patients at the time of the investigation and in their history.Results and discussion. The results of genotyping showed a significant association of the studied markers with AS. The carriage of the C/T genotype of the polymorphic markers rs10050860 and rs17482078 in the ERAP1 gene was associated with the history of peripheral arthritis (p=0.029) and the presence of incomplete right bundle branch block (IRBBB) (p=0.003 and p=0.006); the carriage of the G/A genotype of the marker rs11209026 in the IL23R gene was significantly associated with psoriasis (p=0.017) and IRBBB (p=0.03) in patients with AS.Conclusion. The polymorphic markers of the ERAP1 and IL23R genes are associated with the risk of developing AS in this sample of patients. There is a significant correlation between the studied polymorphisms and some clinical manifestations of AS, which can be considered as a predictor of a more severe disease course.https://mrj.ima-press.net/mrj/article/view/1044анкилозирующий спондилитerap1il23rклинические особенностивнескелетные проявления |
| spellingShingle | U. A. Yakubova O. V. Bugrova K. A. Nagornova Association of <i>ERAP1</i> and <i>IL23R</i> gene polymorphisms with ankylosing spondylitis Современная ревматология анкилозирующий спондилит erap1 il23r клинические особенности внескелетные проявления |
| title | Association of <i>ERAP1</i> and <i>IL23R</i> gene polymorphisms with ankylosing spondylitis |
| title_full | Association of <i>ERAP1</i> and <i>IL23R</i> gene polymorphisms with ankylosing spondylitis |
| title_fullStr | Association of <i>ERAP1</i> and <i>IL23R</i> gene polymorphisms with ankylosing spondylitis |
| title_full_unstemmed | Association of <i>ERAP1</i> and <i>IL23R</i> gene polymorphisms with ankylosing spondylitis |
| title_short | Association of <i>ERAP1</i> and <i>IL23R</i> gene polymorphisms with ankylosing spondylitis |
| title_sort | association of i erap1 i and i il23r i gene polymorphisms with ankylosing spondylitis |
| topic | анкилозирующий спондилит erap1 il23r клинические особенности внескелетные проявления |
| url | https://mrj.ima-press.net/mrj/article/view/1044 |
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