Hum Antibodies. 2024;32(1):1-8. doi: 10.3233/HAB-230010.
Multiple Sclerosis known as MS, this chronic inflammatory demyelinating condition affects the nervous system. It is a heterogenic and multifactorial disease. The goal of the current study was to investigate the relationship between MS patients' IL18 gene expression and the vitamin D receptor gene polymorphism (FOK1rs2228570).
The aim of the study to investigate the association of vitamin D receptor (FOK1rs2228570) gene polymorphism and pro inflammatory cytokine (IL18) gene expression among multiple sclerosis Iraqi patients. Detection VDR polymorphism and determine whether this SNP is involved in susceptibility to multiple sclerosis and estimation IL18 gene expression and explore its relation with multiple sclerosis susceptibility.
Blood samples were taken from 75 MS patients in Iraq (30 men and 45 women), as well as from 75 volunteers who seemed to be in a favorable state of health and fell within the age range of 20 to 50 years. Tetra-ARMS Polymerase Chain Reaction (Tetra-ARMS PCR) was used to find polymorphisms in the vitamin D receptor (VDR) gene, and Real-time Polymerase Chain Reaction (RT-PCR) was used to measure IL18 gene expression.
The findings from the analysis of VDR gene polymorphism in patients with MS indicated that the wild-type genotype T/T was present in 8 individuals, accounting for 10.6%, the heterogeneous genotype TC was 36 (48%), and the homogeneous genotype CC was 31 (41.3%), whilst T allele frequency was 52(34.6%) and C allele was 98(65.3%) with (P⩽ 0.01) significant difference and even as in control T/T genotype was 49(65.3%), TC genotype was 21(28%), CC genotype was 5(6.66%), T allele frequency was 119(79.3%) and C allele was 31(20.6%) with significant difference (P⩽ 0.001). While estimation of IL18 expression showed high elevation in patients' group (2.59 ± 0.51 fold) by significance difference (P⩽ 0.5) when compared to control group (1.35 ± 0.14 fold). The relationship between IL18 gene expression with VDR variant in MS patients demonstrated a significant rise (2.9 ± 0.51 fold) at CC genotype patients in IL18 folding gene expression, followed by (4.6 ± 0.17 fold) in TC genotype patients and finally (1.4 ± 0.08 fold) in TT genotype patients with highly significant (P⩽ 0.01).
The VDR(FOK1rs2228570) genotype was significantly correlated with IL18 expression in MS patients from Iraq.
多发性硬化症（MS），这种慢性炎症性脱髓鞘疾病影响神经系统。它是一种异质性和多因素疾病。本研究的目的是研究 MS 患者白细胞介素 18（IL18）基因表达与维生素 D 受体基因多态性（FOK1rs2228570）之间的关系。
研究目的是研究伊拉克多发性硬化症患者维生素 D 受体（FOK1rs2228570）基因多态性与促炎细胞因子（IL18）基因表达之间的关联。检测 VDR 多态性并确定该 SNP 是否参与多发性硬化症的易感性，并估计 IL18 基因表达并探索其与多发性硬化症易感性的关系。
从伊拉克 75 名 MS 患者（30 名男性和 45 名女性）以及 75 名看似健康且年龄在 20 至 50 岁之间的志愿者中抽取血液样本。使用四等位基因扩增受阻突变系统聚合酶链反应（Tetra-ARMS PCR）寻找维生素 D 受体（VDR）基因的多态性，实时聚合酶链反应（RT-PCR）用于测量 IL18 基因表达。
对 MS 患者 VDR 基因多态性的分析结果表明，野生型基因型 T/T 存在于 8 名个体中，占 10.6%，杂合基因型 TC 为 36（48%），纯合基因型 CC 为 31（41.3%），而 T 等位基因频率为 52（34.6%），C 等位基因频率为 98（65.3%）（P ⩽ 0.01）具有显著差异，甚至在对照组中 T/T 基因型为 49（65.3%），TC 基因型为 21（28%），CC 基因型为 5（6.66%），T 等位基因频率为 119（79.3%），C 等位基因频率为 31（20.6%）具有显著差异（P ⩽ 0.001）。同时，与对照组（1.35 ± 0.14 倍）相比，患者组的 IL18 表达水平明显升高（2.59 ± 0.51 倍），差异具有统计学意义（P ⩽ 0.05）。MS 患者中 IL18 基因表达与 VDR 变异之间的关系显示，CC 基因型患者的 IL18 基因表达明显升高（2.9 ± 0.51 倍），其次是 TC 基因型患者（4.6 ± 0.17 倍），最后是 TT 基因型患者（1.4 ± 0.08 倍），差异具有统计学意义（P ⩽ 0.01）。
维生素 D 受体（FOK1rs2228570）基因型与伊拉克多发性硬化症患者的 IL18 表达显著相关。
