The Search Of Association Between CLCN2 Gene And Idiopathic Generalized Tonic-clonic Seizures In The Seven Minority Ethnic Isolated People And Han People From Yunnan Province

Objective To investigate the association between CLCN2 gene and idiopathic generalized tonic-clonic seizures(often called a grand mal seizure,GME) in the seven minority ethnic isolated people(Achang people,Deang people,Nu people,Bulang people,Wa people,Lahu people,Jinuo people) and Han people from Yunnan province.Methods The PCR,the sequence analysis of DNA and the case-control study design were used to detect the association between Intron2,Exon5 and Exonl9 of CLCN2 gene polymorphism and idiopathic generalized tonic-clonic seizures in the minority ethnic isolated people and Han people from Yunnan province,including 70 patients with IGTCS of the minority ethnic isolated people and 62 their health relatives(12 patients with IGTCS of Achang people and 9 their relatives,10 patients with IGTCS of Deang people and 12 their relatives,12 patients with IGTCS of Nu people and 6 their relatives,11 patients with IGTCS of Bulang people and 5 their relatives,8 patients with IGTCS of Wa people and 6 their relatives,3 patients with IGTCS of Lahu people and 8 their relatives,14 patients with IGTCS of Jinuo people and 16 their relatives included) and 71 patients of Han people with IGTCS and 59 their normal controls.Results Previously reported susceptible mutations were not found in Intron2,Exon5 and Exonl9 in patients and their normal controls in this study.However,a single nucleotide polymorphism(SNP) at site 146 of Intron18 were found.Distribution of the three genotypes,TT,TC and CC,has a significant difference between the Han patients with IGTCS and the normal controls(χ~2=16.163,P＜0.05).Distribution of the three genotypes has a significant difference between the normal controls of Han people and patients with IGTCS in the minority ethnic isolated people(χ~2= 16.013,P＜0.05).Distribution of the three genotypes has no significant difference between the normal controls of the Han people with IGTCS and patients with IGTCS in the minority ethnic isolated people(χ~2=0.708,P＞0.05).Distribution of the TT and non-TT gene type,and TC and non-TC gene type has a significant difference between the Han people with IGTCS and the their normal controls(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 7 minorities ethnic isolated people from Yunnan province,because there is no significant difference between the two group.The TT gene type play a protect role in patients with IGTCS,however,the gene type TC increases the risk of IGTCS.