Investigating the role of VDR gene variants in multiple sclerosis susceptibility: a case–control study in Egypt
Abstract Background Multiple sclerosis (MS) is a chronic inflammatory disorder. Vitamin D has a major role in preventing inflammatory disorders as well as its role in the pathophysiology of MS. Vitamin D initiates its biological responses by binding to the nuclear vitamin D receptor (VDR). Several s...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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SpringerOpen
2024-04-01
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| Series: | The Egyptian Journal of Neurology, Psychiatry and Neurosurgery |
| Online Access: | https://doi.org/10.1186/s41983-024-00794-z |
| _version_ | 1797209466642366464 |
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| author | Hala Ashraf Hosni Amr Mohamed Fouad Noha Wael Ibrahim Sahar Abd El-Atty Sharaf |
| author_facet | Hala Ashraf Hosni Amr Mohamed Fouad Noha Wael Ibrahim Sahar Abd El-Atty Sharaf |
| author_sort | Hala Ashraf Hosni |
| collection | DOAJ |
| description | Abstract Background Multiple sclerosis (MS) is a chronic inflammatory disorder. Vitamin D has a major role in preventing inflammatory disorders as well as its role in the pathophysiology of MS. Vitamin D initiates its biological responses by binding to the nuclear vitamin D receptor (VDR). Several studies have been conducted over the last decade to investigate the relationship between VDR gene variants and the risk of MS, but the results have been inconsistent and inconclusive. The objective of this study is to investigate the association between the VDR gene variants (c.1025-49C>A) and (c.1056A>G) and MS susceptibility in a sample of the Egyptian population, and to shed light on its potential role in preventing inflammatory disorders and its impact on clinical outcomes and treatment using TaqMan Real-Time Polymerase Chain Reaction (PCR). This case-control study was conducted on 100 participants, categorized into two groups. The first group included 50 patients diagnosed with relapsing-remitting multiple sclerosis (RRMS) based on the Revised McDonald MS criteria, and the second group included 50 matched healthy participants. After collecting the blood samples, deoxyribonucleic acid (DNA) was extracted and detection of the VDR: c.1025-49C>A and VDR: c.1056A>G gene variants was done using TaqMan Real-Time PCR on all involved individuals. Results The distribution of the genotypes and alleles of VDR gene variants (c.1025- 49C>A) and (c.1056A>G) did not differ significantly between MS patients and healthy participants (P>0.05 in both). Conclusion Here we show in this study that there was no association between the risk of MS and the VDR gene variants (c.1025-49C>A) and (c.1056A>G) in a group of the Egyptian population which may have impact on MS therapy and outcome. |
| first_indexed | 2024-04-24T09:55:09Z |
| format | Article |
| id | doaj.art-3a3eb9e829e341e2b21f5d763026fecb |
| institution | Directory Open Access Journal |
| issn | 1687-8329 |
| language | English |
| last_indexed | 2024-04-24T09:55:09Z |
| publishDate | 2024-04-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | The Egyptian Journal of Neurology, Psychiatry and Neurosurgery |
| spelling | doaj.art-3a3eb9e829e341e2b21f5d763026fecb2024-04-14T11:10:30ZengSpringerOpenThe Egyptian Journal of Neurology, Psychiatry and Neurosurgery1687-83292024-04-016011910.1186/s41983-024-00794-zInvestigating the role of VDR gene variants in multiple sclerosis susceptibility: a case–control study in EgyptHala Ashraf Hosni0Amr Mohamed Fouad1Noha Wael Ibrahim2Sahar Abd El-Atty Sharaf3Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo UniversityDepartment of Neurology, Faculty of Medicine, Cairo UniversityDepartment of Clinical and Chemical Pathology, Faculty of Medicine, Cairo UniversityDepartment of Clinical and Chemical Pathology, Faculty of Medicine, Cairo UniversityAbstract Background Multiple sclerosis (MS) is a chronic inflammatory disorder. Vitamin D has a major role in preventing inflammatory disorders as well as its role in the pathophysiology of MS. Vitamin D initiates its biological responses by binding to the nuclear vitamin D receptor (VDR). Several studies have been conducted over the last decade to investigate the relationship between VDR gene variants and the risk of MS, but the results have been inconsistent and inconclusive. The objective of this study is to investigate the association between the VDR gene variants (c.1025-49C>A) and (c.1056A>G) and MS susceptibility in a sample of the Egyptian population, and to shed light on its potential role in preventing inflammatory disorders and its impact on clinical outcomes and treatment using TaqMan Real-Time Polymerase Chain Reaction (PCR). This case-control study was conducted on 100 participants, categorized into two groups. The first group included 50 patients diagnosed with relapsing-remitting multiple sclerosis (RRMS) based on the Revised McDonald MS criteria, and the second group included 50 matched healthy participants. After collecting the blood samples, deoxyribonucleic acid (DNA) was extracted and detection of the VDR: c.1025-49C>A and VDR: c.1056A>G gene variants was done using TaqMan Real-Time PCR on all involved individuals. Results The distribution of the genotypes and alleles of VDR gene variants (c.1025- 49C>A) and (c.1056A>G) did not differ significantly between MS patients and healthy participants (P>0.05 in both). Conclusion Here we show in this study that there was no association between the risk of MS and the VDR gene variants (c.1025-49C>A) and (c.1056A>G) in a group of the Egyptian population which may have impact on MS therapy and outcome.https://doi.org/10.1186/s41983-024-00794-z |
| spellingShingle | Hala Ashraf Hosni Amr Mohamed Fouad Noha Wael Ibrahim Sahar Abd El-Atty Sharaf Investigating the role of VDR gene variants in multiple sclerosis susceptibility: a case–control study in Egypt The Egyptian Journal of Neurology, Psychiatry and Neurosurgery |
| title | Investigating the role of VDR gene variants in multiple sclerosis susceptibility: a case–control study in Egypt |
| title_full | Investigating the role of VDR gene variants in multiple sclerosis susceptibility: a case–control study in Egypt |
| title_fullStr | Investigating the role of VDR gene variants in multiple sclerosis susceptibility: a case–control study in Egypt |
| title_full_unstemmed | Investigating the role of VDR gene variants in multiple sclerosis susceptibility: a case–control study in Egypt |
| title_short | Investigating the role of VDR gene variants in multiple sclerosis susceptibility: a case–control study in Egypt |
| title_sort | investigating the role of vdr gene variants in multiple sclerosis susceptibility a case control study in egypt |
| url | https://doi.org/10.1186/s41983-024-00794-z |
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