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

Objective To investigate whether the voltage-gated chloride channel CLC-2gene-CLCN2 is associated with idiopathic generalized tonic-clonic seizures(often called a grand mal seizure, GME) of Jinuo people and Han people fromYunnan province.Methods Three regions, including Intron2,Exon5 and Exon19 (Intron18), ofCLCN2 of 14 IGTCS patients of Jinuo people and 16 their relatives,67 IGTCSpatients of Han people and 57 normal controls of Han people from Yunnan province,were selected to conduct sequence analysis. The case-control study design wasused to detect association between gene polymorphism and idiopathic generalizedtonic-clonic seizures of Jinuo people and Han people from Yunnan province.Results No previously reported susceptible mutations were found in Intro2,Exon5 and Exon19 in Jinuo people and Han people from Yunnan province. Howeverwe found a single nucleotide polymorphism (SNP) at site 146 ofIntron18. Case-control study were carried out, using this SNP. Distribution ofthe three genotypes has a significant difference between the IGTCS patients ofHan people and the normal controls of Han people (x~2=16.079, P＜0.05).Distribution of the three genotypes has a significant difference between theJinuo people (the IGTCS patients and their relatives of Jinuo people) and thenormal controls of Han people (x~2=7.027, P＜0.05). Distribution of the TT and non-TT gene type,TC and non-TC gene type has a significant difference betweenthe IGTCS patients of Han people and the normal control of Han people(x~2=10.694,P＜0.05, OR=4.121; x~2=11.592, P＜0.05, OR=0.238).Conclusion The data shows that the SNP at site 146 of Intron 18 of CLCN2 mightbe a potential susceptible polymorphism causing idiopathic generalizedtonic-clonic seizures in Han people and Jinuo people from Yunnan province, andthere is no significant difference between the two group. The TT gene type playa protect role in the IGTCS patients, however, the gene type TC increase therisk of IGTCS.