Journal article
Association between the gamma-aminobutyric acid type B receptor 1 and 2 gene polymorphisms and mesial temporal lobe epilepsy in a Han Chinese population
Epilepsy research, Vol.81(2-3), pp.198-203
10/01/2008
DOI: 10.1016/j.eplepsyres.2008.06.001
PMID: 18653317
Abstract
An abnormal gamma-aminobutyric acid B receptor composed of gamma-aminobutyric acid type B receptor 1 (GABBR1) and gamma-aminobutyric acid type B receptor 2 (GABBR2) can provoke seizures. This study was designed to assess the contribution of GABBR1 and GABBR2 in mesial temporal lobe epilepsy (MTLE). Two tag single-nucteotide polymorphisms (SNPs) of GABBR1 and four tag SNPs of GABBR2 were selected and genotyped in 318 MTLE patients and 315 non-epileptic individuals. The rs967932 A-allele of GABBR2 increased the risk of MTLE in an additive and a dominant genetic model,, respectively (P = 0.018, OR = 1.305, 95% CI 1.048-1.624 and P = 0.003, OR = 1.667, 95% CI 1.186-2.343, respectively). rs'1999501 and rs944688 of GABBR2, and rs29259 of GABBR1 were thought to be associated with MTLE; however, after a Bonferroni correction, these associations were not observed and only the rs967932 A-allele was found to increase the risk of MTLE in the dominant model (P = 0.036). The frequency at which the haplotype G-C-A-C (rs3780428-rs1999501-rs967932-rs944688) occurred in MTLE patients was significantly higher compared to the controls (12.26% vs. 6.51 %, P = 0.0004) and patients carrying this haplotype exhibited an earlier onset of MTLE (P = 0.028). No evidence of significant allelic, genotypic, or haplotypic associations were identified in the tag SNPs of the GABBR1 gene in patients with MTLE, and the polymorphism at G1465A was not observed in our samples. Our results provide the first evidence that common genetic variations in the GABBR2 gene contribute to the risk of MTLE. Moreover, the present results do not support the hypothesis that common variants of GABBR1 contribute substantially to the epileptogenic effect during MTLE in the Han Chinese. (C) 2008 Elsevier B.V. All rights reserved.
Details
- Title: Subtitle
- Association between the gamma-aminobutyric acid type B receptor 1 and 2 gene polymorphisms and mesial temporal lobe epilepsy in a Han Chinese population
- Creators
- Xin Wang - Chinese Academy of Medical Sciences & Peking Union Medical CollegeWei Sun - Capital UniversityXilin Zhu - Chinese Acad Med Sci, Inst Basic Med Sci, Natl Lab Med Mol Biol, Beijing 100730, Peoples R ChinaLiping Li - Capital UniversityXiaopan Wu - Chinese Acad Med Sci, Inst Basic Med Sci, Natl Lab Med Mol Biol, Beijing 100730, Peoples R ChinaHua Lin - Capital UniversityShuying Zhu - Chinese Acad Med Sci, Inst Basic Med Sci, Natl Lab Med Mol Biol, Beijing 100730, Peoples R ChinaAihua Liu - Capital UniversityTe Du - Chinese Acad Med Sci, Inst Basic Med Sci, Natl Lab Med Mol Biol, Beijing 100730, Peoples R ChinaYang Liu - Chinese Acad Med Sci, Inst Basic Med Sci, Natl Lab Med Mol Biol, Beijing 100730, Peoples R ChinaNifang Niu - Chinese Acad Med Sci, Inst Basic Med Sci, Natl Lab Med Mol Biol, Beijing 100730, Peoples R ChinaYuping Wang - Capital UniversityYing Liu - Chinese Acad Med Sci, Inst Basic Med Sci, Natl Lab Med Mol Biol, Beijing 100730, Peoples R China
- Resource Type
- Journal article
- Publication Details
- Epilepsy research, Vol.81(2-3), pp.198-203
- Publisher
- Elsevier
- DOI
- 10.1016/j.eplepsyres.2008.06.001
- PMID
- 18653317
- ISSN
- 0920-1211
- eISSN
- 1872-6844
- Number of pages
- 6
- Grant note
- 7042037 / Natural Science Foundation of Beijing, China; Beijing Natural Science Foundation 30421003 / Foundation of China for Innovative Research Groups; National Natural Science Foundation of China (NSFC)
- Language
- English
- Date published
- 10/01/2008
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984701556302771
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