中国汉族部分发作癫痫患者中SCN1A基因的两个功能性位点与卡马西平单药治疗疗效的相关性研究(英文)

Association between two functional SNPs of SCN1A gene and ei cacy of carbamazepine monotherapy for focal seizures in Chinese Han epileptic patients

目的:观察SCN1A基因rs2298771和rs3812718两功能性位点突变对卡马西平抗癫痫疗效的影响.方法:研究对象为628位癫痫患者,对rs2298771和rs3812718两位点进行基因分型,卡马西平单药治疗新发作的部分发作患者,与患者起始病情比较,采用四分类标准对抗癫痫疗效进行半定量:发作完全控制,发作减少＞75％,发作减少50％～75％,发作减少＜50％.结果:351位患者完成了12个月单药治疗.rs2298771位点G等位基因携带者发作完全控制率显著低于AA型个体(P=0.003),对于发作完全控制和不完全控制二分类疗效,也表明G等位基因为影响疗效的风险因子.结论:rs2298771位点与卡马西平抗癫痫的疗效显著相关.

Objective: To investigate whether single nucleotide polymorphisms(SNPs) of rs2298771 and rs3812718 of the sodium channel α-subunit type 1(SCN1A) gene affect the efficacy of carbamazepine(CBZ) treatment for seizures in Chinese Han epileptic patients. Methods: SNP rs2298771 and rs3812718 of the SCN1A gene from 628 patients were genotyped. CBZ monotherapy was administered to the subjects with new-onset partial seizures. h e ei cacy was dei ned as the decrease in the number of seizures. Four semi-quantitative levels were used to assess the ei cacy: seizure-free(SF), >75% seizure decrease(SD), 50%–75% SD, and <50% SD in the number of seizures compared with patients' initial conditions. Results: At er the 12 month treatment with CBZ monotherapy, the rate of SF patients with G allele of the SNP rs2298771 was signii cantly lower than that in patients with the AA genotype(P=0.003). The heterozygote and homozygote of the G allele at SNP rs2298771 predicted the low SF rate(OR=2.101, 95% CI 1.289–3.425). Marginal signii cance was observed between the dichotomous ei cacy of SF and non-SF in 3 partial seizure types(P=0.028). Conclusion: rs2298771 is significantly associated with the efficacy of CBZ monotherapy in Chinese Han epileptic patients.