title: Polymorphisms in the receptor for advanced glycation end products gene are associated with susceptibility to drug-resistant epilepsy.
abstract: Increasing evidence has demonstrated that inflammation plays an important role in epilepsy (EP). As a cell-surface molecule of the immunoglobulin superfamily, the receptor for advanced glycation end products (RAGE) is involved in inflammation-related disease. Functional polymorphisms in the regulatory elements and/or ligand-binding regions of RAGE may alter the expression and function of RAGE, thus affecting EP susceptibility. Here, we have identified a novel association between genetic variants in the RAGE G82S locus and EP (p=0.033) using a case-control study in a Chinese population. Further analyses showed that the 82S+ genotype and S allele were more common in patients with drug-resistant epilepsy (DRE) than in those with drug-responsive EP compared with controls. The loci -374T/A and -429T/C did not demonstrate any association with EP, but the haplotype T-A-A exhibited significantly different frequencies between DRE patients and controls (OR=1.696, 95% CI: 1.188-2.420, P=0.003). Our study provides preliminary evidence that the G82S polymorphism in RAGE is associated with increased DRE risk and that the GS genotype of the G82S locus is a risk factor for DRE in the Chinese population.
authors.affiliation: Department of Neurology, The First Affiliated Hospital, Harbin Medical University, 150001 Harbin, Heilongjiang, China.
authors.forename: Mingxing
authors.initials: M
authors.lastname: Guo
authors.affiliation: Stem Cell Research and Clinical Translation Center, Affiliated Hospital of Guangdong Medical University, Zhanjiang, Guangdong, China.
authors.forename: Jiafeng
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Neurology, The First Affiliated Hospital, Harbin Medical University, 150001 Harbin, Heilongjiang, China.
authors.forename: Huili
authors.initials: H
authors.lastname: Qi
authors.affiliation: Department of Neurology, The First Affiliated Hospital, Harbin Medical University, 150001 Harbin, Heilongjiang, China.
authors.forename: Fei
authors.initials: F
authors.lastname: Liu
authors.affiliation: Department of Neurology, The First Affiliated Hospital, Harbin Medical University, 150001 Harbin, Heilongjiang, China. Electronic address: yaolifen_2015@sina.com.
authors.forename: Lifen
authors.initials: L
authors.lastname: Yao
authors.affiliation: Department of Neurology, The Fourth Affiliated Hospital, Harbin Medical University, 150001 Harbin, Heilongjiang, China.
authors.forename: Shuyan
authors.initials: S
authors.lastname: Zhang
authors.affiliation: Stroke Center, Neurology & Neurosurgery Devision, The Clinical Medicine Research Institute & The First Affiliated Hospital of Jinan University, Guangzhou, China.
authors.forename: Keshen
authors.initials: K
authors.lastname: Li
mesh_terms: D044466:Asian People; D016022:Case-Control Studies; D004827:Epilepsy / Q000188:drug therapy / Q000208:ethnology / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D000067759:Receptor for Advanced Glycation End Products / Q000235:genetics*; D017211:Treatment Failure
chemical_list: D000067759:Receptor for Advanced Glycation End Products
keywords: Association study; Epilepsy; RAGE; Single nucleotide polymorphism