Wang Ping, Zhou Qiuhong, Sheng Yanghao, Tang Beisha, Liu Zhaoqian, Zhou Boting
Department of Pharmacy, Xiangya Hospital, Central South University, Changsha 410008; School of Pharmaceutical Sciences, Central South University, Changsha 410013, China.
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2014 May;39(5):433-41. doi: 10.3969/j.issn.1672-7347.2014.05.001.
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.
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. The efficacy was defined as the decrease in the number of seizures. Four semi-quantitative levels were used to assess the efficacy: seizure-free (SF), >75% seizure decrease (SD), 50%-75% SD, and <50% SD in the number of seizures compared with patients' initial conditions.
After the 12 month treatment with CBZ monotherapy, the rate of SF patients with G allele of the SNP rs2298771 was significantly 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 significance was observed between the dichotomous efficacy of SF and non-SF in 3 partial seizure types (P=0.028).
rs2298771 is significantly associated with the efficacy of CBZ monotherapy in Chinese Han epileptic patients.
研究钠通道α亚基1型（SCN1A）基因的rs2298771和rs3812718单核苷酸多态性（SNP）是否影响卡马西平（CBZ）治疗中国汉族癫痫患者癫痫发作的疗效。
对628例患者的SCN1A基因的SNP rs2298771和rs3812718进行基因分型。对新诊断的部分性发作患者采用CBZ单药治疗。疗效定义为癫痫发作次数减少。采用四个半定量水平评估疗效：无癫痫发作（SF）、癫痫发作减少>75%（SD）、癫痫发作减少50%-75%、癫痫发作减少<50%，与患者初始情况相比。
CBZ单药治疗12个月后，SNP rs2298771的G等位基因的SF患者比例显著低于AA基因型患者（P=0.003）。SNP rs2298771的G等位基因杂合子和纯合子预测SF率低（OR=2.101，95%CI 1.289-3.425）。在3种部分性发作类型中，SF和非SF的二分疗效之间观察到边缘显著性（P=0.028）。
rs2298771与中国汉族癫痫患者CBZ单药治疗的疗效显著相关。
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