Association between two functional SNPs of SCN1A gene and efficacy of carbamazepine monotherapy for focal seizures in Chinese Han epileptic patients.
10.3969/j.issn.1672-7347.2014.05.001
- Author:
Ping WANG
1
,
2
;
Qiuhong ZHOU
;
Yanghao SHENG
;
Beisha TANG
;
Zhaoqian LIU
;
Boting ZHOU
Author Information
1. Department of Pharmacy, Xiangya Hospital, Central South University, Changsha 410008
2. School of Pharmaceutical Sciences, Central South University, Changsha 410013, China.
- Publication Type:Journal Article
- MeSH:
Alleles;
Asian Continental Ancestry Group;
Carbamazepine;
therapeutic use;
Epilepsy;
Genotype;
Humans;
NAV1.1 Voltage-Gated Sodium Channel;
genetics;
Polymorphism, Single Nucleotide;
Seizures;
drug therapy;
genetics
- From:
Journal of Central South University(Medical Sciences)
2014;39(5):433-441
- CountryChina
- Language:English
-
Abstract:
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. 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.
RESULTS: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).
CONCLUSION:rs2298771 is significantly associated with the efficacy of CBZ monotherapy in Chinese Han epileptic patients.
