Hua Tao1, Ligang Si2, Xu Zhou3, Zhou Liu4, Zhonghua Ma5, Haihong Zhou1, Wangtao Zhong1, Lili Cui4, Shuyan Zhang6, You Li4, Guoda Ma4, Jianghao Zhao1, Wenhui Huang4, Lifen Yao2, Zhien Xu1, Bin Zhao7, Keshen Li8. 1. Department of Neurology, Affiliated Hospital of Guangdong Medical University, Zhanjiang, Guangdong 524001, China. 2. Department of Pediatrics, the First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang 150001, China. 3. Clinical Research Center, Guangdong Medical University, Zhanjiang, Guangdong 524001, China. 4. Institute of Neurology, Guangdong Medical University, Zhanjiang, Guangdong 524001, China. 5. Department of Neurology, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China. 6. Department of Neurology, the First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang 150001, China. 7. Department of Neurology, Affiliated Hospital of Guangdong Medical University, Zhanjiang, Guangdong 524001, China; Institute of Neurology, Guangdong Medical University, Zhanjiang, Guangdong 524001, China. Electronic address: binzhaoe@163.com. 8. Institute of Neurology, Guangdong Medical University, Zhanjiang, Guangdong 524001, China. Electronic address: likeshen1971@126.com.
Abstract
BACKGROUND: Recent studies indicate that increased expression of glyoxalase I (GLO1) could result in epileptic seizures; thus, this study further explored the association of GLO1 with epilepsy from the perspective of molecular genetics. MATERIAL AND METHODS: GLO1 single nucleotide polymorphisms (SNPs; rs1130534, rs4746 and rs1049346) were investigated in cohort I (the initial samples: 249 cases and 289 controls). A replication study designed to confirm the positive findings in cohort I was performed in cohorts II (the additional samples: 130 cases and 191 controls) and I+II. RESULTS: In cohorts I, II and I+II, the CC genotype at rs1049346 T>C exerts a protective effect against both late-onset epilepsy (odds ratio [OR]=2.437, p=0.013; OR=2.844, p=0.008; OR=2.645, p=0.000, q=0.003, respectively) and drug-resistant epilepsy (DRE) (OR=2.985, p=0.020; OR=2.943, p=0.014; OR=3.049, p=0.001, q=0.006, respectively). Further analyses in cohort I+II indicate that the presence of the TAC/AAT haplotypes (rs1130534-rs4746-rs1049346) may be used as a marker of predisposition to/protection against DRE (p=0.002, q=0.010; p=0.000, q=0.002, respectively). CONCLUSIONS: This study is the first to demonstrate that the GLO1 SNPs are significantly associated with epilepsy. In particular, the rs1049346 T>C SNPs are potentially useful for risk assessment of late-onset epilepsy and DRE.
BACKGROUND: Recent studies indicate that increased expression of glyoxalase I (GLO1) could result in epileptic seizures; thus, this study further explored the association of GLO1 with epilepsy from the perspective of molecular genetics. MATERIAL AND METHODS:GLO1 single nucleotide polymorphisms (SNPs; rs1130534, rs4746 and rs1049346) were investigated in cohort I (the initial samples: 249 cases and 289 controls). A replication study designed to confirm the positive findings in cohort I was performed in cohorts II (the additional samples: 130 cases and 191 controls) and I+II. RESULTS: In cohorts I, II and I+II, the CC genotype at rs1049346 T>C exerts a protective effect against both late-onset epilepsy (odds ratio [OR]=2.437, p=0.013; OR=2.844, p=0.008; OR=2.645, p=0.000, q=0.003, respectively) and drug-resistant epilepsy (DRE) (OR=2.985, p=0.020; OR=2.943, p=0.014; OR=3.049, p=0.001, q=0.006, respectively). Further analyses in cohort I+II indicate that the presence of the TAC/AAT haplotypes (rs1130534-rs4746-rs1049346) may be used as a marker of predisposition to/protection against DRE (p=0.002, q=0.010; p=0.000, q=0.002, respectively). CONCLUSIONS: This study is the first to demonstrate that the GLO1 SNPs are significantly associated with epilepsy. In particular, the rs1049346 T>C SNPs are potentially useful for risk assessment of late-onset epilepsy and DRE.