Hua Tao: Department of Neurology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
Lili Cui: Institute of Neurology, Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
You Li: Institute of Neurology, Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
Xu Zhou: Clinical Research Center, Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
Guoda Ma: Institute of Neurology, Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
Lifen Yao: Department of Neurology, The First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang 150001, China.
Jiawu Fu: Department of Neurology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
Wen Li: Institute of Neurology, Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
Yujie Cai: Institute of Neurology, Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
Haihong Zhou: Department of Neurology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
Wangtao Zhong: Department of Neurology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
Shuyan Zhang: Department of Neurology, The Fourth Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang 150001, China.
Zhien Xu: Department of Neurology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
Keshen Li: Institute of Neurology, Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
Bin Zhao: Department of Neurology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, Guangdong 524001, China ; Institute of Neurology, Guangdong Medical College, Zhanjiang, Guangdong 524001, China.
BACKGROUND: miR-155 likely acts as an important modulator in the inflammatory mechanism of epilepsy, and this study investigated its association with epilepsy from the perspective of molecular genetics. METHODS: This study enrolled 249 epileptic patients and 289 healthy individuals of the Chinese Han population; 4 tag single-nucleotide polymorphisms (SNPs: rs969885, rs12483428, rs987195, and rs4817027) of the MIR155HG/miR-155 gene were selected, and their association with epilepsy was investigated. Additionally, this study determined the copy numbers of the MIR155HG/miR-155 gene. RESULTS: The TCA haplotype (rs12483428-rs987195-rs4817027) and the AA genotype at rs4817027 conferred higher vulnerability to epilepsy in males. Stratification by age of onset revealed that the CC haplotype (rs969885-rs987195) was a genetic susceptibility factor for early-onset epilepsy. Further stratification by drug-resistant status indicated the CC haplotype (rs969885-rs987195) and the AA genotype at rs4817027 were genetic susceptibility factors for drug-resistant epilepsy (DRE) but the CG haplotype (rs987195-rs969885) was a genetically protective factor against DRE. Besides, 3 epileptic patients with copy number variants of the MIR155HG/miR-155 gene were observed. CONCLUSIONS: This study first demonstrates the association of MIR155HG/miR-155 tag SNPs with epilepsy and shows that rare CNVs were found exclusively in epileptic patients, clarifying the genetic role of miR-155 in epilepsy.