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)2D, 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)2D: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.
Keywords: 24,25(OH)2D; 25(OH)D; epilepsy; polymorphisms; vitamin D; vitamin D binding protein.