Association between Vitamin D Receptor Gene Polymorphisms with Childhood Temporal Lobe Epilepsy

International Journal of Environmental Research and Public Health

Pei Jiang¹  Wen-Ye Zhu¹  Xin He¹  Mi-Mi Tang¹  Rui-Li Dang¹  Huan-De Li¹  Ying Xue¹  Li-Hong Zhang¹  Yan-Qin Wu¹  Ling-Juan Cao¹ 

[1] Institute of Clinical Pharmacy and Pharmacology, Second Xiangya Hospital, Central South University, Changsha 410011, China; E-Mails:

关键词: epilepsy;    children;    vitamin D receptor;    polymorphisms;   

DOI  :  10.3390/ijerph121113913

来源: mdpi

【 摘 要 】

Vitamin D (VD) is implicated in multiple aspects of human physiology and vitamin D receptor (VDR) polymorphisms are associated with a variety of neuropsychiatric disorders. Although VD deficiency is highly prevalent in epilepsy patients and converging evidence indicates a role for VD in the development of epilepsy, no data is available on the possible relationship between epilepsy and genetic variations of VDR. In this study, 150 controls and 82 patients with temporal lobe epilepsy (TLE) were genotyped for five common VDR polymorphisms (Cdx-2, FokI, BsmI, ApaI and TaqI) by the polymerase chain reaction-ligase detection reaction method. Our results revealed that the frequency of FokI AC genotype was significantly higher in the control group than in the patients (p = 0.003, OR = 0.39, 95% CI = 0.21–0.73), whereas the AA genotype of ApaI SNP was more frequent in patients than in controls (p = 0.018, OR = 2.92, 95% CI = 1.2–7.1). However, no statistically significant association was found between Cdx-2, BsmI and TaqI polymorphisms and epilepsy. Additionally, in haplotype analysis, we found the haplotype GAT (BsmI/ApaI/TaqI) conferred significantly increased risk for developing TLE (p = 0.039, OR = 1.62, 95% CI = 1.02–2.56). As far as we know, these results firstly underline the importance of VDR polymorphisms for the genetic susceptibility to epilepsy.

【 授权许可】

CC BY   
© 2015 by the authors; licensee MDPI, Basel, Switzerland.