Hala Ashraf Hosni, Amr Mohamed Fouad, Noha Wael Ibrahim, Sahar Abd El-Atty Sharaf
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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. 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). 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.\n","PeriodicalId":74995,"journal":{"name":"The Egyptian journal of neurology, psychiatry and neurosurgery","volume":"48 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Investigating the role of VDR gene variants in multiple sclerosis susceptibility: a case–control study in Egypt\",\"authors\":\"Hala Ashraf Hosni, Amr Mohamed Fouad, Noha Wael Ibrahim, Sahar Abd El-Atty Sharaf\",\"doi\":\"10.1186/s41983-024-00794-z\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"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. 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). 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引用次数: 0
摘要
多发性硬化症(MS)是一种慢性炎症性疾病。维生素 D 在预防炎症性疾病以及多发性硬化症的病理生理学方面发挥着重要作用。维生素 D 通过与核维生素 D 受体(VDR)结合启动其生物反应。在过去十年中,已有多项研究调查了 VDR 基因变异与多发性硬化症风险之间的关系,但结果并不一致,也没有定论。本研究的目的是在埃及人群中抽样调查 VDR 基因变异(c.1025-49C>A)和(c.1056A>G)与多发性硬化症易感性之间的关系,并利用 TaqMan 实时聚合酶链式反应(PCR)揭示其在预防炎症性疾病中的潜在作用及其对临床结果和治疗的影响。这项病例对照研究以 100 名参与者为对象,分为两组。第一组包括50名根据修订版麦克唐纳多发性硬化症标准诊断为复发缓解型多发性硬化症(RRMS)的患者,第二组包括50名匹配的健康参与者。采集血样后,提取脱氧核糖核酸(DNA),并使用 TaqMan Real-Time PCR 技术检测所有相关个体的 VDR:c.1025-49C>A 和 VDR:c.1056A>G 基因变异。多发性硬化症患者和健康人的 VDR 基因变异(c.1025- 49C>A)和(c.1056A>G)的基因型和等位基因的分布没有显著差异(P>0.05)。本研究表明,在埃及人群中,多发性硬化症的发病风险与 VDR 基因变异(c.1025-49C>A)和(c.1056A>G)之间没有关联,这可能会对多发性硬化症的治疗和预后产生影响。
Investigating the role of VDR gene variants in multiple sclerosis susceptibility: a case–control study in Egypt
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. 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). 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.