1 Department of Pharmacy, Phase I Clinical Research Center, The First People's Hospital of Lianyungang, The Affiliated Lianyungang Hospital of Xuzhou Medical University , Lianyungang, China .
2 Department of Pharmacy, Institute of Clinical Pharmacy and Pharmacology, Jining First People's Hospital, Jining Medical University , Jining, China .
DNA Cell Biol. 2018 Sep;37(9):786-790. doi: 10.1089/dna.2018.4252. Epub 2018 Jul 11.
Accumulating studies suggest the potential association between epilepsy and vitamin D (VD) in recent years. Vitamin D binding protein (VDBP) is the main VD carrier and can affect the availability of VD and its metabolites. Thus, this study aimed to investigate the association between VDBP polymorphisms and VD level on epilepsy. A total of 220 epilepsy patients and 210 health controls were enrolled and polymorphisms of VDBP (rs4588, rs7041, rs2298849, and rs2282679) genotype were detected using the PCR-ligase detection reaction method. The circulating status of VD metabolites, 25(OH)D and 24,25(OH)D, was detected by a validated high-performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS) method, and the VD metabolite ratio (VMR), 24,25(OH)D:25(OH)D, was then calculated. The frequency of rs4588(C>A) and rs2282679(A>C) genotype with AC was significantly lower among the patients relative to the controls [odds ratio, OR = 0.597, 95% confidence interval, CI = 0.401-0.890, p = 0.011 for rs4588(C>A); OR = 0.611, 95% CI = 0.409-0.912, p = 0.016 for rs2282679(A>C), respectively]. For rs7041 genotype distribution, VMR level was significantly higher in patients with GG genotype than in those carrying TT and TG genotype (p = 0.008). Our study demonstrated that the polymorphisms of VDBP rs4588 and rs2282679 may play a potentially important role in epilepsy susceptibility in Chinese Han population.
近年来，越来越多的研究表明癫痫与维生素 D（VD）之间存在潜在关联。维生素 D 结合蛋白（VDBP）是 VD 的主要载体，可影响 VD 及其代谢物的可用性。因此，本研究旨在探讨 VDBP 多态性与癫痫患者 VD 水平的关系。共纳入 220 例癫痫患者和 210 例健康对照者，采用 PCR-连接酶检测反应法检测 VDBP（rs4588、rs7041、rs2298849 和 rs2282679）基因型多态性。采用经验证的高效液相色谱-串联质谱法（HPLC-MS/MS）检测 VD 代谢物 25（OH）D 和 24,25（OH）D 的循环状态，并计算 VD 代谢物比值（VMR），即 24,25（OH）D：25（OH）D。与对照组相比，患者中 rs4588（C>A）和 rs2282679（A>C）基因型 AC 频率明显降低[比值比，OR=0.597，95%置信区间，CI=0.401-0.890，p=0.011 对于 rs4588（C>A）；OR=0.611，95%CI=0.409-0.912，p=0.016 对于 rs2282679（A>C）]。对于 rs7041 基因型分布，GG 基因型患者 VMR 水平明显高于 TT 和 TG 基因型患者（p=0.008）。本研究表明，VDBP rs4588 和 rs2282679 多态性可能在中国汉族人群中对癫痫易感性起重要作用。
