Prognostic significance of interleukin-1a (il1a) RS1800857 genetic polymorphism in develop pulmonary sarcoidosis in residents of Karelia
The relevance of the research problem is justified by insufficient knowledge of the mechanisms for genetic regulation of inflammatory immune response during granuloma formation and arising inflammation in pulmonary sarcoidosis. It is believed that development of inflammatory process and formation of...
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| Format: | Article |
| Language: | Russian |
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Sankt-Peterburg : NIIÈM imeni Pastera
2023-11-01
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| Series: | Инфекция и иммунитет |
| Subjects: | |
| Online Access: | https://iimmun.ru/iimm/article/viewFile/9635/1787 |
| _version_ | 1797389172275675136 |
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| author | Irina E. Malysheva Ludmila V. Topchieva Ella L. Tikhonovich |
| author_facet | Irina E. Malysheva Ludmila V. Topchieva Ella L. Tikhonovich |
| author_sort | Irina E. Malysheva |
| collection | DOAJ |
| description | The relevance of the research problem is justified by insufficient knowledge of the mechanisms for genetic regulation of inflammatory immune response during granuloma formation and arising inflammation in pulmonary sarcoidosis. It is believed that development of inflammatory process and formation of sarcoid granulomas occurs in subjects with genetically determined sensitivity to the effects of an unidentified etiological agent(s). The complexity of determining a causative factor(s) is accounted for by a variety of clinical forms and manifestations of the disease as well as a role for multifaceted immunological events in the pathogenesis of this disease. The process of inflammation, its intensity, may depend, among other issues, on host genetic background. Both enhanced and lowered production of pro-inflammatory factors can be observed in carriers of certain combinations of gene allelic variants. This, in turn, may determine human susceptibility to emergence of pulmonary sarcoidosis as well as alter clinical characteristics of the disease course and magnitude of developing immune inflammatory response. It should also be noted that the genetic background differs in various ethnic groups. Therefore, genetic background and environmental cues, ethnicity, may account for differed disease prevalence and phenotype. In this regard, it is relevant to search for allelic gene variations that could act as prognostic markers for development and progression of pulmonary sarcoidosis as well as characterize the features of its course. The data on the relationship between the carriage of allelic gene variations and susceptibility to pulmonary sarcoidosis as well as the contribution ofIL1Ars1800857 polymorphic variant to development, progression, and therapy of the disease remain sparse and often contradictory. The current study assessed a risk of lung sarcoidosis in the subjects of Russian descent of the Republic of Karelia. According to the results of the studies, a significant association (p 0.001) between the indicatedIL1Agene allelic polymorphism and pulmonary sarcoidosis was established, with a risk of its development increasing by 3.47-fold (95% CI 2.41–5.01) in carriers of the T allele (p 0.001). Thus, the single nucleotide polymorphism rs1800857 in theIL1Agene is associated with the risk of developing lung sarcoidosis in the subjects of Russian descent of the Republic of Karelia. |
| first_indexed | 2024-03-08T22:52:57Z |
| format | Article |
| id | doaj.art-dc83253d0770482aa20eb3cc3188ad68 |
| institution | Directory Open Access Journal |
| issn | 2220-7619 2313-7398 |
| language | Russian |
| last_indexed | 2024-03-08T22:52:57Z |
| publishDate | 2023-11-01 |
| publisher | Sankt-Peterburg : NIIÈM imeni Pastera |
| record_format | Article |
| series | Инфекция и иммунитет |
| spelling | doaj.art-dc83253d0770482aa20eb3cc3188ad682023-12-16T10:50:05ZrusSankt-Peterburg : NIIÈM imeni PasteraИнфекция и иммунитет2220-76192313-73982023-11-0113596797110.15789/2220-7619-PSO-96351339Prognostic significance of interleukin-1a (il1a) RS1800857 genetic polymorphism in develop pulmonary sarcoidosis in residents of KareliaIrina E. Malysheva0https://orcid.org/0000-0003-3583-0218Ludmila V. Topchieva1https://orcid.org/0000-0001-8697-2086Ella L. Tikhonovich2https://orcid.org/0000-0002-5416-9536Institute of Biology of the Karelian Research Centre of the Russian Academy of SciencesInstitute of Biology of the Karelian Research Centre of the Russian Academy of SciencesV.A. Baranov Republican HospitalThe relevance of the research problem is justified by insufficient knowledge of the mechanisms for genetic regulation of inflammatory immune response during granuloma formation and arising inflammation in pulmonary sarcoidosis. It is believed that development of inflammatory process and formation of sarcoid granulomas occurs in subjects with genetically determined sensitivity to the effects of an unidentified etiological agent(s). The complexity of determining a causative factor(s) is accounted for by a variety of clinical forms and manifestations of the disease as well as a role for multifaceted immunological events in the pathogenesis of this disease. The process of inflammation, its intensity, may depend, among other issues, on host genetic background. Both enhanced and lowered production of pro-inflammatory factors can be observed in carriers of certain combinations of gene allelic variants. This, in turn, may determine human susceptibility to emergence of pulmonary sarcoidosis as well as alter clinical characteristics of the disease course and magnitude of developing immune inflammatory response. It should also be noted that the genetic background differs in various ethnic groups. Therefore, genetic background and environmental cues, ethnicity, may account for differed disease prevalence and phenotype. In this regard, it is relevant to search for allelic gene variations that could act as prognostic markers for development and progression of pulmonary sarcoidosis as well as characterize the features of its course. The data on the relationship between the carriage of allelic gene variations and susceptibility to pulmonary sarcoidosis as well as the contribution ofIL1Ars1800857 polymorphic variant to development, progression, and therapy of the disease remain sparse and often contradictory. The current study assessed a risk of lung sarcoidosis in the subjects of Russian descent of the Republic of Karelia. According to the results of the studies, a significant association (p 0.001) between the indicatedIL1Agene allelic polymorphism and pulmonary sarcoidosis was established, with a risk of its development increasing by 3.47-fold (95% CI 2.41–5.01) in carriers of the T allele (p 0.001). Thus, the single nucleotide polymorphism rs1800857 in theIL1Agene is associated with the risk of developing lung sarcoidosis in the subjects of Russian descent of the Republic of Karelia.https://iimmun.ru/iimm/article/viewFile/9635/1787inflammationgranulomalung sarcoidosiscytokinesinfectious agentsgene polymorphismil1a gene |
| spellingShingle | Irina E. Malysheva Ludmila V. Topchieva Ella L. Tikhonovich Prognostic significance of interleukin-1a (il1a) RS1800857 genetic polymorphism in develop pulmonary sarcoidosis in residents of Karelia Инфекция и иммунитет inflammation granuloma lung sarcoidosis cytokines infectious agents gene polymorphism il1a gene |
| title | Prognostic significance of interleukin-1a (il1a) RS1800857 genetic polymorphism in develop pulmonary sarcoidosis in residents of Karelia |
| title_full | Prognostic significance of interleukin-1a (il1a) RS1800857 genetic polymorphism in develop pulmonary sarcoidosis in residents of Karelia |
| title_fullStr | Prognostic significance of interleukin-1a (il1a) RS1800857 genetic polymorphism in develop pulmonary sarcoidosis in residents of Karelia |
| title_full_unstemmed | Prognostic significance of interleukin-1a (il1a) RS1800857 genetic polymorphism in develop pulmonary sarcoidosis in residents of Karelia |
| title_short | Prognostic significance of interleukin-1a (il1a) RS1800857 genetic polymorphism in develop pulmonary sarcoidosis in residents of Karelia |
| title_sort | prognostic significance of interleukin 1a il1a rs1800857 genetic polymorphism in develop pulmonary sarcoidosis in residents of karelia |
| topic | inflammation granuloma lung sarcoidosis cytokines infectious agents gene polymorphism il1a gene |
| url | https://iimmun.ru/iimm/article/viewFile/9635/1787 |
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