title: Association between Vitamin D Receptor Gene Polymorphisms with Childhood Temporal Lobe Epilepsy.
abstract: 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.
authors.affiliation: Institute of Clinical Pharmacy and Pharmacology, Second Xiangya Hospital, Central South University, Changsha 410011, China. jpoet89@126.com.|Department of Pharmacy, Jining First People's Hospital, Jining 272011, China. jpoet89@126.com.
authors.forename: Pei
authors.initials: P
authors.lastname: Jiang
authors.affiliation: Institute of Clinical Pharmacy and Pharmacology, Second Xiangya Hospital, Central South University, Changsha 410011, China. zhuwenyewawbmg@126.com.
authors.forename: Wen-Ye
authors.initials: WY
authors.lastname: Zhu
authors.affiliation: Institute of Clinical Pharmacy and Pharmacology, Second Xiangya Hospital, Central South University, Changsha 410011, China. hexin526@126.com.
authors.forename: Xin
authors.initials: X
authors.lastname: He
authors.affiliation: Institute of Clinical Pharmacy and Pharmacology, Second Xiangya Hospital, Central South University, Changsha 410011, China. tangmimi1989@126.com.
authors.forename: Mi-Mi
authors.initials: MM
authors.lastname: Tang
authors.affiliation: Institute of Clinical Pharmacy and Pharmacology, Second Xiangya Hospital, Central South University, Changsha 410011, China. ruilidang@gmail.com.
authors.forename: Rui-Li
authors.initials: RL
authors.lastname: Dang
authors.affiliation: Institute of Clinical Pharmacy and Pharmacology, Second Xiangya Hospital, Central South University, Changsha 410011, China. lihuande1953@126.com.
authors.forename: Huan-De
authors.initials: HD
authors.lastname: Li
authors.affiliation: Institute of Clinical Pharmacy and Pharmacology, Second Xiangya Hospital, Central South University, Changsha 410011, China. xueying091@126.com.
authors.forename: Ying
authors.initials: Y
authors.lastname: Xue
authors.affiliation: Institute of Clinical Pharmacy and Pharmacology, Second Xiangya Hospital, Central South University, Changsha 410011, China. zhanglihong0612@163.com.
authors.forename: Li-Hong
authors.initials: LH
authors.lastname: Zhang
authors.affiliation: Institute of Clinical Pharmacy and Pharmacology, Second Xiangya Hospital, Central South University, Changsha 410011, China. wuyanqin1992@163.com.
authors.forename: Yan-Qin
authors.initials: YQ
authors.lastname: Wu
authors.affiliation: Institute of Clinical Pharmacy and Pharmacology, Second Xiangya Hospital, Central South University, Changsha 410011, China. caolingjuan@126.com.
authors.forename: Ling-Juan
authors.initials: LJ
authors.lastname: Cao
mesh_terms: D000293:Adolescent; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004833:Epilepsy, Temporal Lobe / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics*; D014807:Vitamin D / Q000235:genetics*; D014808:Vitamin D Deficiency / Q000235:genetics*
chemical_list: D018167:Receptors, Calcitriol; C579457:VDR protein, human; D014807:Vitamin D
keywords: children; epilepsy; polymorphisms; vitamin D receptor