The role of SIRT1 level and SIRT1 gene polymorphisms in optic neuritis patients with multiple sclerosis
Abstract The aim To investigate the role of Sirtuin 1 (SIRT1) level and SIRT1 (rs3818292, rs3758391, rs7895833) gene polymorphisms in patients with optic neuritis (ON) and multiple sclerosis (MS). Methods 79 patients with ON and 225 healthy subjects were included in the study. ON patients were divid...
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| Format: | Article |
| Language: | English |
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BMC
2023-03-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-023-02665-x |
| _version_ | 1797863538696388608 |
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| author | Aleksandra Kubiliute Greta Gedvilaite Alvita Vilkeviciute Loresa Kriauciuniene Akvile Bruzaite Dalia Zaliuniene Rasa Liutkeviciene |
| author_facet | Aleksandra Kubiliute Greta Gedvilaite Alvita Vilkeviciute Loresa Kriauciuniene Akvile Bruzaite Dalia Zaliuniene Rasa Liutkeviciene |
| author_sort | Aleksandra Kubiliute |
| collection | DOAJ |
| description | Abstract The aim To investigate the role of Sirtuin 1 (SIRT1) level and SIRT1 (rs3818292, rs3758391, rs7895833) gene polymorphisms in patients with optic neuritis (ON) and multiple sclerosis (MS). Methods 79 patients with ON and 225 healthy subjects were included in the study. ON patients were divided into 2 subgroups: patients with MS (n = 30) and patients without MS (n = 43). 6 ON patients did not have sufficient data for MS diagnosis and were excluded from the subgroup analysis. DNA was extracted from peripheral blood leukocytes and genotyped by real-time polymerase chain reaction. Results were analysed using the program "IBM SPSS Statistics 27.0". Results We discovered that SIRT1 rs3758391 was associated with a twofold increased odds of developing ON under the codominant (p = 0.007), dominant (p = 0.011), and over-dominant (p = 0.008) models. Also, it was associated with a threefold increased odds ofON with MS development under the dominant (p = 0.010), twofold increased odds under the over-dominant (p = 0.032) models and a 1.2-fold increased odds of ON with MS development (p = 0.015) under the additive model. We also discovered that the SIRT1 rs7895833 was significantly associated with a 2.5-fold increased odds of ON development under the codominant (p = 0.001), dominant (p = 0.006), and over-dominant (p < 0.001) models, and a fourfold increased odds of ON with MS development under the codominant (p < 0.001), dominant (p = 0.001), over-dominant (p < 0.001) models and with a twofold increased odds of ON with MS development (p = 0.013) under the additive genetic model. There was no association between SIRT1 levels and ON with/without MS development. Conclusions SIRT1 rs3758391 and rs7895833 polymorphisms are associated with ON and ON with MS development. |
| first_indexed | 2024-04-09T22:38:11Z |
| format | Article |
| id | doaj.art-69d4a327518a4700b656d7addacdcb2b |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-04-09T22:38:11Z |
| publishDate | 2023-03-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-69d4a327518a4700b656d7addacdcb2b2023-03-22T12:21:54ZengBMCOrphanet Journal of Rare Diseases1750-11722023-03-0118111210.1186/s13023-023-02665-xThe role of SIRT1 level and SIRT1 gene polymorphisms in optic neuritis patients with multiple sclerosisAleksandra Kubiliute0Greta Gedvilaite1Alvita Vilkeviciute2Loresa Kriauciuniene3Akvile Bruzaite4Dalia Zaliuniene5Rasa Liutkeviciene6Medical Faculty, Lithuanian University of Health Sciences, Medical AcademyLaboratory of Ophthalmology, Neuroscience Institute, Lithuanian University of Health Sciences, Medical AcademyLaboratory of Ophthalmology, Neuroscience Institute, Lithuanian University of Health Sciences, Medical AcademyLaboratory of Ophthalmology, Neuroscience Institute, Lithuanian University of Health Sciences, Medical AcademyLaboratory of Ophthalmology, Neuroscience Institute, Lithuanian University of Health Sciences, Medical AcademyDepartment of Ophthalmology, Lithuanian University of Health Sciences, Medical AcademyLaboratory of Ophthalmology, Neuroscience Institute, Lithuanian University of Health Sciences, Medical AcademyAbstract The aim To investigate the role of Sirtuin 1 (SIRT1) level and SIRT1 (rs3818292, rs3758391, rs7895833) gene polymorphisms in patients with optic neuritis (ON) and multiple sclerosis (MS). Methods 79 patients with ON and 225 healthy subjects were included in the study. ON patients were divided into 2 subgroups: patients with MS (n = 30) and patients without MS (n = 43). 6 ON patients did not have sufficient data for MS diagnosis and were excluded from the subgroup analysis. DNA was extracted from peripheral blood leukocytes and genotyped by real-time polymerase chain reaction. Results were analysed using the program "IBM SPSS Statistics 27.0". Results We discovered that SIRT1 rs3758391 was associated with a twofold increased odds of developing ON under the codominant (p = 0.007), dominant (p = 0.011), and over-dominant (p = 0.008) models. Also, it was associated with a threefold increased odds ofON with MS development under the dominant (p = 0.010), twofold increased odds under the over-dominant (p = 0.032) models and a 1.2-fold increased odds of ON with MS development (p = 0.015) under the additive model. We also discovered that the SIRT1 rs7895833 was significantly associated with a 2.5-fold increased odds of ON development under the codominant (p = 0.001), dominant (p = 0.006), and over-dominant (p < 0.001) models, and a fourfold increased odds of ON with MS development under the codominant (p < 0.001), dominant (p = 0.001), over-dominant (p < 0.001) models and with a twofold increased odds of ON with MS development (p = 0.013) under the additive genetic model. There was no association between SIRT1 levels and ON with/without MS development. Conclusions SIRT1 rs3758391 and rs7895833 polymorphisms are associated with ON and ON with MS development.https://doi.org/10.1186/s13023-023-02665-xOptic neuritisMultiple sclerosisSIRT1 SNPSIRT1 ELISA |
| spellingShingle | Aleksandra Kubiliute Greta Gedvilaite Alvita Vilkeviciute Loresa Kriauciuniene Akvile Bruzaite Dalia Zaliuniene Rasa Liutkeviciene The role of SIRT1 level and SIRT1 gene polymorphisms in optic neuritis patients with multiple sclerosis Orphanet Journal of Rare Diseases Optic neuritis Multiple sclerosis SIRT1 SNP SIRT1 ELISA |
| title | The role of SIRT1 level and SIRT1 gene polymorphisms in optic neuritis patients with multiple sclerosis |
| title_full | The role of SIRT1 level and SIRT1 gene polymorphisms in optic neuritis patients with multiple sclerosis |
| title_fullStr | The role of SIRT1 level and SIRT1 gene polymorphisms in optic neuritis patients with multiple sclerosis |
| title_full_unstemmed | The role of SIRT1 level and SIRT1 gene polymorphisms in optic neuritis patients with multiple sclerosis |
| title_short | The role of SIRT1 level and SIRT1 gene polymorphisms in optic neuritis patients with multiple sclerosis |
| title_sort | role of sirt1 level and sirt1 gene polymorphisms in optic neuritis patients with multiple sclerosis |
| topic | Optic neuritis Multiple sclerosis SIRT1 SNP SIRT1 ELISA |
| url | https://doi.org/10.1186/s13023-023-02665-x |
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