The Study Of The Association Of CACNA1A Gene With Idiopathic Generalized Epilepsy Syndrome In The Eight Minority Ethnic Isolated People And Han People From Yunnan Province

Background and objectHeterozygous mutations in the CACNA1A gene encoding the voltage-gated calcium channel have been identified in patients with idiopathic generalized epilepsy (IGES). To investigate the involvement of CACNA1A in the eight minority ethnic isolated people (Achang people, Deang people, Nu people, Bulang people, Wa people, Lahu people, Jinuo people, Hani people) and Han people from Yunnan Province.Materials and methodsCollecting93IGES patients of the eight minority ethnic isolated people and91relatives of their family members;146patients of Han people with IGES with the subjects of the control group were83Han people eliminated EPs by clinical examination. We examined Exon36of CACNA1A. The case-control study design was used to detect association between gene polymorphism and idiopathic generalized epilepsy of eight minority ethnic isolated people and Han people from Yunnan province.Result:No previously reported susceptible mutations were found in Exon36in eight minority ethnic isolated people and Han people from Yunnan province. Distribution of the3genotypes (TT, TC, CC) has a significant difference between the IGES patients of Han people and the normal controls of Han people (χ2-7.385, P=0.025). The frequency of the three genotypes has a significant difference between the normal controls of Han people and patients with IGES in Han people (χ2=7.137, P=0.008). Distribution of the three genotypes has no significant difference between the normal controls of the Han people with IGES and patients with IGES in the minority ethnic isolated people(χ2=1.139, P=0.566), the frequency of C allele in1A1802were significantly higher in control subjects than IGES patients (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 IGES and their normal controls. Conclusion:1. Our preliminary results provide evidence that the Exon36of CACNA1A gene may be important risk factors for the development of IGES in the population of eight minority ethnic isolated people (Achang people, Deang people, Nu people, Bulang people, Wa people, Lahu people, Jinuo people, Hani people) and Han people from Yunnan Province.2. Our results suggest that there is no significant difference between the two group in the1A1802of CACNA1A gene in different population.3. The CC gene type plays a protect role in the IGES patients, however, the gene type TT increases the risk of IGES.