title: Combined effect between two functional polymorphisms of SLC6A12 gene is associated with temporal lobe epilepsy.
abstract: Temporal lobe epilepsy (TLE) is the most common epilepsy subtype with complex genetic structure. A recent study in four populations (Ireland, UK, Australia and Finland) reported an allelic association between betaine/GABA transporter-1(BGT-1 or SLC6A12) and mesial temporal lobe epilepsy with hippocampal sclerosis. To demonstrate the association between SLC6A12 gene polymorphisms and TLE, TaqMan method was used to genotype five single-nucleotide polymorphisms of SLC6A12 gene in 358 TLE patients and 596 nonepileptic control subjects of Chinese Han origin. Real-time PCR was used to detect the effects of variations on gene expression associated with TLE. Though, the single-marker analysis did not demonstrate allelic association with TLE, rs542736-rs557881 interaction showed significant association. The SLC6A12 expression levels in peripheral blood mononuclear cells were significantly higher in TLE patients than in control subjects and were correlated to rs542736 G-rs557881 A haplotypes. Our preliminary results suggested combined effect of two common polymorphisms on SLC6A12 gene may be associated with TLE, but the precise mechanism needs further investigation.
authors.affiliation: National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences; School of Basic Medicine, Peking Union Medical College, Beijing 100005, People's Republic of China. wangyuping01@sina.cn.
authors.forename: Jingyun
authors.initials: J
authors.lastname: Li
authors.forename: Hua
authors.initials: H
authors.lastname: Lin
authors.forename: Fenghe
authors.initials: F
authors.lastname: Niu
authors.forename: Xilin
authors.initials: X
authors.lastname: Zhu
authors.forename: Ning
authors.initials: N
authors.lastname: Shen
authors.forename: Xin
authors.initials: X
authors.lastname: Wang
authors.forename: Liping
authors.initials: L
authors.lastname: Li
authors.forename: Aihua
authors.initials: A
authors.lastname: Liu
authors.forename: Xiaopan
authors.initials: X
authors.lastname: Wu
authors.forename: Wei
authors.initials: W
authors.lastname: Sun
authors.forename: Yuping
authors.initials: Y
authors.lastname: Wang
authors.forename: Ying
authors.initials: Y
authors.lastname: Liu
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics*; D016022:Case-Control Studies; D004833:Epilepsy, Temporal Lobe / Q000235:genetics*; D005260:Female; D050485:GABA Plasma Membrane Transport Proteins; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D050485:GABA Plasma Membrane Transport Proteins; C072207:betaine plasma membrane transport proteins