Qinghai University Graduate School, Xining, China.
Department of Neurology, Qinghai Provincial People's Hospital, Xining, China.
Seizure. 2024 Aug;120:56-60. doi: 10.1016/j.seizure.2024.06.008. Epub 2024 Jun 14.
Individual susceptibility to sodium valproate (VPA)-induced tremors may be due to genetic polymorphisms in the gene encoding the uridine diphosphate glucuronosyltransferase (UGT) enzyme, which affec the drug's clinical efficacy and cause toxic side effects. This study aimed to investigate the association between UGT1A6 polymorphisms and VPA-induced tremors in patients with epilepsy.
In total, 128 patients with epilepsy were enrolled. Patients with epilepsy who received VPA were divided into tremor and non-tremor groups. Polymerase chain reaction-restriction fragment length polymorphism was used to investigate the genotype of UGT1A6 polymorphisms.
Carriers of the UGT1A6 A541G mutant genotype conferred a higher risk of tremor than wild-type carriers (odds ratio 2.128, P = 0.045). Logistic regression analysis showed that the A541G mutant genotype was a significant genetic risk factor for VPA-induced tremors. This suggests that individual susceptibility to VPA-induced tremors may result, at least partially, from genetic variation in UGT1A6 A541G.
Patients with epilepsy carrying the UGT1A6 A541G mutant genotype may have VPA-induced tremors, and early detection of this genotype will help guide the clinical individualizsation of VPA treatment.
个体对丙戊酸钠（VPA）引起的震颤的易感性可能是由于编码尿苷二磷酸葡萄糖醛酸基转移酶（UGT）酶的基因中的遗传多态性所致，这会影响药物的临床疗效并引起毒性副作用。本研究旨在探讨 UGT1A6 多态性与癫痫患者 VPA 诱导的震颤之间的关系。
共纳入 128 例癫痫患者。接受 VPA 治疗的癫痫患者分为震颤组和非震颤组。采用聚合酶链反应-限制性片段长度多态性分析方法研究 UGT1A6 多态性的基因型。
携带 UGT1A6 A541G 突变基因型的患者发生震颤的风险高于野生型携带者（优势比 2.128，P=0.045）。Logistic 回归分析表明，A541G 突变基因型是 VPA 诱导震颤的显著遗传危险因素。这表明，个体对 VPA 诱导的震颤的易感性至少部分是由于 UGT1A6 A541G 的遗传变异引起的。
携带 UGT1A6 A541G 突变基因型的癫痫患者可能会出现 VPA 诱导的震颤，早期检测该基因型有助于指导 VPA 个体化治疗。
