Zheng Xiao-Xiao, You Yu-Xin, Zhao Lin-Lin, Du Yan, Xu Sheng-Qiu, Tang Dao-Quan
Department of Clinical Pharmacy, Xuzhou Municipal Hospital Affiliated to Xuzhou Medical University, 269 University Road, Xuzhou City, Jiangsu Province, P.R. China.
Jiangsu Key Laboratory of New Drug Research & Clinical Pharmacy, Xuzhou Medical University, Xuzhou, 221004, China.
Pharmacogenomics. 2023 Feb;24(3):153-162. doi: 10.2217/pgs-2022-0156. Epub 2023 Jan 31.
To evaluate the association between genetic polymorphisms and plasma concentration-to-dose ratio of valproic acid (CDRV) in Chinese epileptic patients. A total of 46 epileptic patients treated with valproic acid therapy were enrolled. 18 SNPs in nine genes related to valproic acid were directly sequenced with Sanger methods. Patients carrying heterozygous genotypes had significantly lower CDRV than those carrying the wild-type genotypes. In contrast, patients with the homozygote genotypes of and had higher CDRV than those with the wild-type genotypes and patients with the heterozygous genotypes of had higher CDRV. Detection of genetic polymorphism in these genes might facilitate an appropriate dose of valproic acid for epileptic patients. Further studies with larger cohorts are necessary to underpin these observations.
评估中国癫痫患者基因多态性与丙戊酸血浆浓度与剂量比值(CDRV)之间的关联。共纳入46例接受丙戊酸治疗的癫痫患者。采用桑格法对9个与丙戊酸相关基因中的18个单核苷酸多态性(SNP)进行直接测序。携带杂合基因型的患者CDRV显著低于携带野生型基因型的患者。相比之下,携带 和 纯合基因型的患者CDRV高于携带野生型基因型的患者,携带 杂合基因型的患者CDRV也较高。检测这些基因中的基因多态性可能有助于为癫痫患者确定合适的丙戊酸剂量。有必要开展更大样本队列的进一步研究以支持这些观察结果。