Volume 19 Issue 1
Jan.  2021
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LOU Jiang, LIN Neng-ming, CHEN Ling, LIU Zhan-li, WANG Wei, WANG Fei, LI Qing-Yu, YAN Wei. Correlation between multiple epilepsy related gene polymorphisms and serum concentrations of lamotrigine in the treatment of epilepsy in children[J]. Chinese Journal of General Practice, 2021, 19(1): 17-19,45. doi: 10.16766/j.cnki.issn.1674-4152.001718
Citation: LOU Jiang, LIN Neng-ming, CHEN Ling, LIU Zhan-li, WANG Wei, WANG Fei, LI Qing-Yu, YAN Wei. Correlation between multiple epilepsy related gene polymorphisms and serum concentrations of lamotrigine in the treatment of epilepsy in children[J]. Chinese Journal of General Practice, 2021, 19(1): 17-19,45. doi: 10.16766/j.cnki.issn.1674-4152.001718

Correlation between multiple epilepsy related gene polymorphisms and serum concentrations of lamotrigine in the treatment of epilepsy in children

doi: 10.16766/j.cnki.issn.1674-4152.001718
Funds:

 2018RC061

 2016ZYY14

 2020E10021

 浙卫办[2018]2号

  • Received Date: 2019-08-08
    Available Online: 2022-02-19
  •   Objective  To evaluated that association between UGT1A4, OCT1, ABCB1 and SCN1A polymorphisms and blood concentration of lamotrigine in pediatric epilepsy patients.   Methods  A total of 49 pediatric epilepsy patients treated with lamotrigine alone in Hangzhou First People's Hospital were enrolled from January 2018 to June 2019. Steady-state plasma concentrations of lamotrigine were collected for a stable dose of consecutive 7 days and above. High performance liquid chromatography was used to measure blood concentrations of lamotrigine. Collect whole blood and analyzed the metabolic enzymes UGT1A4 (rs2011425), transporter OCT1 (rs628031), ABCB1 (rs1045642 and rs1128503) and receptor SCN1A (rs3812718) gene polymorphisms by direct sequencing. The correlation between different genotypes and the dose-normalized blood concentration of lamotrigine [the blood concentration of lamotrigine divided by the daily dose and the patient's body weight per kilogram, Concentration-to-dose-ratio by body weight, CDR, (μg/mL)/(mg/kg)] were investigated by using Kruskal-Wallis H test or Mann-Whitney U test. P < 0.05 was considered statistically significant.   Results  There was significant associations between OCT1 rs628031 polymorphism and lamotrigine CDR, compared with AA and AG genotypes, GG genotype of OCT1 rs628031 was associated with lower LTG CDR [AA + AG vs. GG: 1.27(1.03, 2.20) and 0.69(0.57, 1.02), P=0.002]. No associations were detected between other genotypes and lamotrigine CDR.   Conclusion  OCT1 rs628031 polymorphisms maybe an important factor for the inter-individual in blood concentration and clinical efficacy of lamotrigine.

     

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