云南少数民族和汉族特发性癫痫CLCN2基因多态性研究

目的检测云南省5种独有少数民族(基诺族、阿昌族、布朗族、佤族、拉祜族)与汉族人群特发性癫痫与电压门控氯通道-2基因CLCN2基因多态性是否相关。方法采用PCR、单碱基延伸(SNap shot)等技术,应用病例-对照法检测云南少数民族特发性癫痫患者92例及其未发病亲属170例、云南汉族特发性癫痫患者107例及63例健康人群外周血CLCN2基因多态性。统计少数民族与汉族人群中rs13099401、rs4912540两个位点的基因型、等位基因频率,分别用χ2等检验进行统计分析。结果 CLCN2基因rs13099401位点基因型频率分布在少数民族病例组与汉族病例、对照组之间有统计学差异(χ2=6.828,P=0.033;χ2=9.246,P=0.010,均P<0.05);基因型CC与非CC型在少数民族病例组与汉族对照组间有统计学差异(χ2=9.245,OR=3.26,P=0.002,P<0.01)。rs4912540位点基因型频率在各组间无统计学差异(P>0.05)。结论 CLCN2基因位点rs13099401可能是云南少数民族特发性癫痫患者的相关性位点,基因型CC为汉族特发性癫痫发作的一个保护性因素;rs4912540与云南人群特发性癫痫无显著相关性。

The genic polymorphism of human CLCN2 gene associated with idiopathic epilepsy in unique minority ethnics and Han ethnic in Yunnan Province

Objective To investigate whether the polymorphism of chloride channel gene CLCN2 which encoding voltage-gated chloride ion channel CLC-2 is associated with idiopathic epilepsies(IE) in five minority ethnics(Jinuo,Achang,Bulang,Wa and Lahu)and Han ethnic of Yunnan Province.Methods A total 92 patients with IE and 170 of their relatives without IE from five unique minority ethnics of Yunnan,together with 107 IE patients and 63 normal people from Han ethnic of Yunnan,were recruited in this sequence analysis and case-control study.Two single-nucleotide polymorphisms of CLCN2 gene(rs13099401 and rs4912540) were tested by using PCR and SNap shot sequencing,further to detect association between genic polymorphism and idiopathic generalized epilepsies in these five minority ethnics and Han ethnic of Yunnan Province.The frequency of genotypes and alleles between the four groups were compared by Chi-square test.Results Statistical difference genotype frequency of rs13099401 of CLCN2 gene was found among minority ethnic patients with IE,the Han ethnic group with IE and the Han ethnic control group(χ2=6.828,P=0.033;χ2=9.246,P=0.010,P<0.05).There was statistical difference of the distribution of genotype CC and non-CC type between the minority ethnic group with IE and the Han ethnic control group(χ2=9.245,OR=3.26,P=0.002,P<0.01).No statistical difference found in rs4912540(P>0.05)among groups.Conclusion This study shows that the SNP rs13099401 on CLCN2 gene is likely associated with idiopathic epilepsies(IE)in the minority ethnics of Yunnan while genotype CC plays a protecting role in the attack of IE in Han ethnic.There is no significant correlation at site rs4912540 and IE in Yunnan population.