河北省汉族精神疾病患者CYP2C19基因多态性与丙戊酸代谢的关系分析

doi:10.3969/j.issn.1006-6233.2023.01.018

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Abstract Objective: To analyze the CYP2C19 gene polymorphism and explore the relationship between CYP2C19 gene polymorphism and valproic acid metabolism in Han Chinese patients with mental illness in Hebei Province. Methods: The frequencies of alleles, genotypes and metabolic types of CYP2C19 in 464 Han Chinese patients with mental illness in Hebei Province were analysed, and the differences in men and women were compared separately. Fifty-two patients with schizophrenia treated with olanzapine and valproic acid were selected from the above cases.The blood concentration of valproic acid was determined by high performance liquid chromatography tandem mass spectrometry.One-way ANOVA was used to analyze the differences in valproic acid blood concentrations and blood concentrations per unit dose of valproic acid between different CYP2C19 metabolic types, and multi-factor linear regression was applied to analyze the factors influencing valproic acid blood concentrations. Results: The frequencies of CYP2C19* 1, CYP2C19* 2, CYP2C19* 3 and CYP2C19* 17 in 464 patients with mental illness were 66.60%, 27.26%, 4.74% and 1.40% respectively. A total of 9 genotypes were detected, in descending order of frequency: CYP2C19*1/*1, CYP2C19*1/*2, (CYP2C19* 2/* 2, CYP2C19*1/*3), CYP2C19*1/*17, CYP2C19*2/*3, CYP2C19*3/*3, (CYP2C19*2/*17, CYP2C19*3/*17); the frequencies of distribution of superfast, fast, medium and slow metabolic phenotypes were 2.37%, 42.46%, 46.33% and 8.84%.There was no statistically significant difference in the frequency of distribution of alleles, genotypes and metabolic phenotypes between male and female (χ²=1.668, P=0.644; χ²=13.487, P=0.096; χ²=6.113, P=0.106). Differences in valproic acid blood concentrations between metabolic forms were not statistically significant (F=0.146, P=0.864; F=0.006, P=0.994). The linear regression equation was VPA=43.62 + 38.03 dose - 0.428 age ( F=7.689, P<0.001). Conclusion: The CYP2C19 gene is polymorphic in Han Chinese psychiatric patients in Hebei Province, and the differences in the distribution of alleles, genotypes and metabolic phenotypes between male and female were not statistically significant. Gene polymorphisms of CYP2C19 did not significantly affect the metabolism of valproic acid.

Key words： Valproic acid CYP2C19 Gene polymorphism Han Chinese

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http://www.hbyxzzs.cn/EN/10.3969/j.issn.1006-6233.2023.01.018 OR http://www.hbyxzzs.cn/EN/Y2023/V29/I1/97

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