Dependability Search Of Human CLC-2 Chloride Channel Gene Associated With Idiopathic Generalized Tonic-clonic Seizures In Lahu People, Bulang People, Wa People, Jinuo People And Han People From Yunnan Province

Objective To investigate whether the voltage-gated chloride channel ClC-2 gene-CLCN2 is associated with idiopathic generalized tonic-clonic seizures(often called a grand mal seizure,GME)of Lahu people,Bulang people,Wa people,Jinuo people and Han people from Yunnan province.Methods Three regions,including Intron2,Exon5 and Exon19(Intron18)of CLCN2 of 3 IGTCS patients of Lahu people and 8 their relatives,of CLCN2 of 8 IGTCS patients of Wa people and 6 their relatives,of CLCN2 of 6 IGTCS patients of Bulang people and 4 their relatives,of CLCN2 of 14 IGTCS patients of Jinuo people and 16 their relatives 71 IGTCS patients of Han people and 59 normal controls of Han people from Yunnan province,were selected to conduct sequence analysis.The case-control study design was used to detect association between gene polymorphism and idiopathic generalized tonic-clonic seizures of minority ethnic group and Han people from Yunnan province.Results No previously reported susceptible mutations were found in Intron2,Exon5 and Exon19 in Lahu people,Bulang people,Wa people,Jinuo people and Han people from Yunnan province.However we found a single nucleotide polymorphism(SNP)at site 146 of Intron18.Case-control study were carried out,using this SNP.Distribution of the three genotypes has a significant difference between the Han people with IGTCS and the normal controls(χ~2= 16.163,P＜0.01).Distribution of the three genotypes has a significant difference between the normal controls of Hart people and the relatives of minority(χ~2=8.971,P＜0.05). Distribution of the three genotypes has a significant difference between the normal controls of Han people and the IGTCS patients(χ~2=9.149,P＜0.05).Distribution of the TT and non-TT gene type,TC and non-TC gene type has a significant difference between the Han people with IGTCS and the normal control ofHan people(χ~2=10.749,P＜0.05,OR=4.096;χ~2=11.652, P＜0.05,OR=0.249).Conclusion This study shows that the SNP at site 146 of Intron 18 of CLCN2 might be a potential susceptible polymorphism causing idiopathic generalized tonic-clonic seizures in Han people and 4 minorities from Yunnan province,because there is no significant difference between the two group.The TT gene type play a protect role in the IGTCS patients,however, the gene type TC increase the risk of IGTCS.