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中风患者的基因变异性:CYP2C19基因多态性解析

Genetic variability in stroke patients: CYP2C19 polymorphisms unraveled.

作者信息

Peng Peiyi, Xiao Yingxiu, Peng Xuehong, Chen Jianqiang, Chen Nuan

机构信息

Shantou University Medical College, Shantou, Guangdong, China.

Department of Neurology, The First Affiliated Hospital of Shantou University Medical College, Shantou, Guangdong, China.

出版信息

BMC Med Genomics. 2024 Apr 26;17(1):109. doi: 10.1186/s12920-024-01886-8.

Abstract

OBJECTIVE

To study the distribution characteristics of CYP2C19 polymorphisms in patients suffering from stroke in Han Chinese patients.

METHOD

PCR and DNA microarray chip technology were used to detect the CYP2C19 genotype of 549 patients with stroke, and the genotype, allele frequency and metabolic type of patients with different sexes, ages and types of infarctions and the independent risk factors for clopidogrel resistance were analyzed.

RESULTS

Six genotypes were detected in these 549 patients. A total of 233 (42.44%) patients had the heterozygous allele *1/*2, which was the most prevalent, followed by the homozygous wild-type allele *1/*1 (191, 34.79%). A total of 30 (5.46%) patients possessed the heterozygous allele *1/*3, and 65 (11.84%) patients had the homozygous mutant allele *2/*2. Twenty-nine (5.28%) patients had the compound heterozygous mutant allele *2/*3, and only 1 patient had the homozygous mutant allele *3/*3. The distribution of genotypes, alleles, and metabolic types did not change significantly (P > 0.05) by sex, age, or type of stroke. In addition, no independent risk factors for clopidogrel resistance were found in this analysis.

CONCLUSION

The distribution of CYP2C19 genotypes, allele frequencies, and metabolic types in patients with stroke in Han Chinese patients were not correlated with sex, age, or infarction type. The possibilities of hyperglycemia, hypercholesterolemia, hypertriglyceridemia, hypo-HDL-cholesterolemia, hyper-LDL-cholesterolemia and high blood pressure were not statistically associated with CYP2C19 genotypes. CYP2C19 gene polymorphism detection is recommended for patients who are available, and during treatment, the CYP2C19 genotype can be used to guide personalized precise medication use in patients with stroke.

摘要

目的

研究汉族脑卒中患者CYP2C19基因多态性的分布特征。

方法

采用聚合酶链反应(PCR)和基因芯片技术检测549例脑卒中患者的CYP2C19基因型,分析不同性别、年龄、梗死类型患者的基因型、等位基因频率、代谢类型及氯吡格雷抵抗的独立危险因素。

结果

549例患者共检测出6种基因型。杂合子等位基因*1/2的患者最多,共233例(42.44%),其次是纯合野生型等位基因1/1(191例,34.79%)。杂合子等位基因1/3的患者有30例(5.46%),纯合突变等位基因2/2的患者有65例(11.84%)。复合杂合突变等位基因2/3的患者有29例(5.28%),纯合突变等位基因3/*3的患者仅1例。基因型、等位基因及代谢类型的分布在性别、年龄或脑卒中类型方面差异无统计学意义(P>0.05)。此外,本分析未发现氯吡格雷抵抗的独立危险因素。

结论

汉族脑卒中患者CYP2C19基因型、等位基因频率及代谢类型的分布与性别、年龄或梗死类型无关。高血糖、高胆固醇血症、高甘油三酯血症、低高密度脂蛋白胆固醇血症、高高密度脂蛋白胆固醇血症及高血压与CYP2C19基因型无统计学关联。建议对有条件的患者进行CYP2C19基因多态性检测,治疗过程中可根据CYP2C19基因型指导脑卒中患者个体化精准用药。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a06f/11055221/696fae030133/12920_2024_1886_Fig1_HTML.jpg

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