FOXP3 and GATA3 Polymorphisms, Vitamin D3 and Multiple Sclerosis
Background: Regulatory T cells (Tregs) alterations have been implicated in the pathogenesis of Multiple Sclerosis (MS). Recently, a crucial role of the X-Linked Forkhead Box P3 (FoxP3) for the development and the stability of Tregs has emerged, and FOXP3 gene polymorphisms have been associated with...
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MDPI AG
2021-03-01
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| Online Access: | https://www.mdpi.com/2076-3425/11/4/415 |
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| author | Concetta Scazzone Luisa Agnello Bruna Lo Sasso Giuseppe Salemi Caterina Maria Gambino Paolo Ragonese Giuseppina Candore Anna Maria Ciaccio Rosaria Vincenza Giglio Giulia Bivona Matteo Vidali Marcello Ciaccio |
| author_facet | Concetta Scazzone Luisa Agnello Bruna Lo Sasso Giuseppe Salemi Caterina Maria Gambino Paolo Ragonese Giuseppina Candore Anna Maria Ciaccio Rosaria Vincenza Giglio Giulia Bivona Matteo Vidali Marcello Ciaccio |
| author_sort | Concetta Scazzone |
| collection | DOAJ |
| description | Background: Regulatory T cells (Tregs) alterations have been implicated in the pathogenesis of Multiple Sclerosis (MS). Recently, a crucial role of the X-Linked Forkhead Box P3 (FoxP3) for the development and the stability of Tregs has emerged, and FOXP3 gene polymorphisms have been associated with the susceptibility to autoimmune diseases. The expression of Foxp3 in Tregs is regulated by the transcription factor GATA binding-protein 3 (GATA3) and vitamin D<sub>3</sub>. The aim of this retrospective case-control study was to investigate the potential association between FOXP3 and GATA3 genetic variants, Vitamin D<sub>3</sub>, and MS risk. Methods: We analyzed two polymorphisms in the FOXP3 gene (rs3761547 and rs3761548) and a polymorphism in the GATA3 gene (rs3824662) in 106 MS patients and 113 healthy controls. Serum 25(OH)D3 was also measured in all participants. Results: No statistically significant genotypic and allelic differences were found in the distribution of FOXP3 rs3761547 and rs3761548, or GATA3 rs3824662 in the MS patients, compared with controls. Patients that were homozygous for rs3761547 had lower 25(OH)D3 levels. Conclusions: Our findings did not show any association among FOXP3 and GATA3 SNPs, vitamin D<sub>3</sub>, and MS susceptibility. |
| first_indexed | 2024-03-10T12:53:40Z |
| format | Article |
| id | doaj.art-daf6baacca9e4207b93d7b6e79b890b8 |
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| issn | 2076-3425 |
| language | English |
| last_indexed | 2024-03-10T12:53:40Z |
| publishDate | 2021-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Brain Sciences |
| spelling | doaj.art-daf6baacca9e4207b93d7b6e79b890b82023-11-21T12:05:10ZengMDPI AGBrain Sciences2076-34252021-03-0111441510.3390/brainsci11040415FOXP3 and GATA3 Polymorphisms, Vitamin D3 and Multiple SclerosisConcetta Scazzone0Luisa Agnello1Bruna Lo Sasso2Giuseppe Salemi3Caterina Maria Gambino4Paolo Ragonese5Giuseppina Candore6Anna Maria Ciaccio7Rosaria Vincenza Giglio8Giulia Bivona9Matteo Vidali10Marcello Ciaccio11Department of Biomedicine, Neurosciences and Advanced Diagnostics, Institute of Clinical Biochemistry, Clinical Molecular Medicine and Laboratory Medicine, University of Palermo, 90127 Palermo, ItalyDepartment of Biomedicine, Neurosciences and Advanced Diagnostics, Institute of Clinical Biochemistry, Clinical Molecular Medicine and Laboratory Medicine, University of Palermo, 90127 Palermo, ItalyDepartment of Biomedicine, Neurosciences and Advanced Diagnostics, Institute of Clinical Biochemistry, Clinical Molecular Medicine and Laboratory Medicine, University of Palermo, 90127 Palermo, ItalyUnit of Neurology, Department of Biomedicine, Neurosciences and Advanced Diagnostics, University of Palermo, 90127 Palermo, ItalyDepartment of Biomedicine, Neurosciences and Advanced Diagnostics, Institute of Clinical Biochemistry, Clinical Molecular Medicine and Laboratory Medicine, University of Palermo, 90127 Palermo, ItalyUnit of Neurology, Department of Biomedicine, Neurosciences and Advanced Diagnostics, University of Palermo, 90127 Palermo, ItalyLaboratory of Immunopathology and Immunosenescence, Department of Biomedicine, Neurosciences and Advanced Diagnostics, University of Palermo, 90127 Palermo, ItalyUnit of Clinical Biochemistry, University of Palermo, 90127 Palermo, ItalyDepartment of Biomedicine, Neurosciences and Advanced Diagnostics, Institute of Clinical Biochemistry, Clinical Molecular Medicine and Laboratory Medicine, University of Palermo, 90127 Palermo, ItalyDepartment of Biomedicine, Neurosciences and Advanced Diagnostics, Institute of Clinical Biochemistry, Clinical Molecular Medicine and Laboratory Medicine, University of Palermo, 90127 Palermo, ItalyFoundation IRCCS Ca’ Granda Ospedale Maggiore Policlinico, 20122 Milan, ItalyDepartment of Biomedicine, Neurosciences and Advanced Diagnostics, Institute of Clinical Biochemistry, Clinical Molecular Medicine and Laboratory Medicine, University of Palermo, 90127 Palermo, ItalyBackground: Regulatory T cells (Tregs) alterations have been implicated in the pathogenesis of Multiple Sclerosis (MS). Recently, a crucial role of the X-Linked Forkhead Box P3 (FoxP3) for the development and the stability of Tregs has emerged, and FOXP3 gene polymorphisms have been associated with the susceptibility to autoimmune diseases. The expression of Foxp3 in Tregs is regulated by the transcription factor GATA binding-protein 3 (GATA3) and vitamin D<sub>3</sub>. The aim of this retrospective case-control study was to investigate the potential association between FOXP3 and GATA3 genetic variants, Vitamin D<sub>3</sub>, and MS risk. Methods: We analyzed two polymorphisms in the FOXP3 gene (rs3761547 and rs3761548) and a polymorphism in the GATA3 gene (rs3824662) in 106 MS patients and 113 healthy controls. Serum 25(OH)D3 was also measured in all participants. Results: No statistically significant genotypic and allelic differences were found in the distribution of FOXP3 rs3761547 and rs3761548, or GATA3 rs3824662 in the MS patients, compared with controls. Patients that were homozygous for rs3761547 had lower 25(OH)D3 levels. Conclusions: Our findings did not show any association among FOXP3 and GATA3 SNPs, vitamin D<sub>3</sub>, and MS susceptibility.https://www.mdpi.com/2076-3425/11/4/415multiple sclerosisgeneticpolymorphismsFOXP3GATA3vitamin D |
| spellingShingle | Concetta Scazzone Luisa Agnello Bruna Lo Sasso Giuseppe Salemi Caterina Maria Gambino Paolo Ragonese Giuseppina Candore Anna Maria Ciaccio Rosaria Vincenza Giglio Giulia Bivona Matteo Vidali Marcello Ciaccio FOXP3 and GATA3 Polymorphisms, Vitamin D3 and Multiple Sclerosis Brain Sciences multiple sclerosis genetic polymorphisms FOXP3 GATA3 vitamin D |
| title | FOXP3 and GATA3 Polymorphisms, Vitamin D3 and Multiple Sclerosis |
| title_full | FOXP3 and GATA3 Polymorphisms, Vitamin D3 and Multiple Sclerosis |
| title_fullStr | FOXP3 and GATA3 Polymorphisms, Vitamin D3 and Multiple Sclerosis |
| title_full_unstemmed | FOXP3 and GATA3 Polymorphisms, Vitamin D3 and Multiple Sclerosis |
| title_short | FOXP3 and GATA3 Polymorphisms, Vitamin D3 and Multiple Sclerosis |
| title_sort | foxp3 and gata3 polymorphisms vitamin d3 and multiple sclerosis |
| topic | multiple sclerosis genetic polymorphisms FOXP3 GATA3 vitamin D |
| url | https://www.mdpi.com/2076-3425/11/4/415 |
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