CYP19A1位点(rs28757157和rs3751591)在中国汉族缺血性卒中风险中的作用

IF 1.8 4区 医学 Q3 PHARMACOLOGY & PHARMACY Pharmacogenomics & Personalized Medicine Pub Date : 2023-01-01 DOI:10.2147/PGPM.S404160
Kang Huang, Tianyi Ma, Qiang Li, Zanrui Zhong, Ting Qin, Yilei Zhou, Wei Zhang, Shilin Tang, Jianghua Zhong, Shijuan Lu
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摘要

简介:缺血性脑卒中是一种受遗传因素影响的多因素、多基因疾病。在这项研究中,我们探讨了CYP19A1单核苷酸多态性(snp)在中国人群IS中的作用。方法:本研究共纳入1302例受试者,其中对照组651例,病例651例。通过千人基因组计划数据库筛选CYP19A1的4个候选snp (rs28757157 C/T、rs3751592 C/T、rs3751591 G/A、rss59429575 C/T)。CYP19A1 snp与IS风险之间的关系采用logistic回归分析,比值比(OR)和95%置信区间(CIs)。假阳性报告概率(FPRP)分析进一步验证了阳性结果。采用多因素降维法(MDR)分析SNP-SNP的相互作用,预测其风险。结果:在本研究中,CYP19A1位点(rs28757157和rs3751591)与IS的发生有关。这两种变异使得60岁以上、吸烟者和饮酒者对IS的易感性增加。Rs28757157与女性、非吸烟者和BMI小于24的受试者发生IS的风险相关,rss59429575与男性和BMI大于24的受试者发生IS的风险相关。结论:本研究发现CYP19A1位点(rs28757157和rs3751591)与中国汉族人群is发病风险存在显著相关性,为进一步探索其在is发病机制中的具体作用提供了理论依据。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Role of CYP19A1 Loci (rs28757157 and rs3751591) with Ischemic Stroke Risk in the Chinese Han Population.

Introduction: Ischemic stroke (IS) is a multifactorial and polygenic disease, which is affected by genetic factors. In this study, we explored the role of CYP19A1 single nucleotide polymorphisms (SNPs) in IS in the Chinese population.

Methods: 1302 subjects (651 controls and 651 cases) were recruited in this case-control study. Four candidate SNPs (rs28757157 C/T, rs3751592 C/T, rs3751591 G/A, rs59429575 C/T) of CYP19A1 were selected by the 1000 genomes project database. The association between CYP19A1 SNPs and IS risk was assessed using logistic regression analysis with odds ratio (OR) and 95% confidence intervals (CIs). False-positive report probability (FPRP) analysis further verified the positive results. The interaction of SNP-SNP was analyzed by multi-factor dimensionality reduction (MDR) to predict is risk.

Results: In the research, CYP19A1 loci (rs28757157 and rs3751591) were associated with the occurrence of IS. The two variants conferred an increased susceptibility to IS in the subjects aged over 60 years old, smokers and drinkers. Rs28757157 was related to the risk of IS in females, non-smokers and subjects with BMI less than 24, while rs59429575 was related to the risk of IS in males and subjects with BMI greater than 24.

Conclusion: The study revealed that there is a significant association between CYP19A1 loci (rs28757157 and rs3751591) and IS risk in the Chinese Han population, providing a theoretical basis for further exploring its specific role in the pathogenesis of IS.

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来源期刊
Pharmacogenomics & Personalized Medicine
Pharmacogenomics & Personalized Medicine Biochemistry, Genetics and Molecular Biology-Molecular Medicine
CiteScore
3.30
自引率
5.30%
发文量
110
审稿时长
16 weeks
期刊介绍: Pharmacogenomics and Personalized Medicine is an international, peer-reviewed, open-access journal characterizing the influence of genotype on pharmacology leading to the development of personalized treatment programs and individualized drug selection for improved safety, efficacy and sustainability. In particular, emphasis will be given to: Genomic and proteomic profiling Genetics and drug metabolism Targeted drug identification and discovery Optimizing drug selection & dosage based on patient''s genetic profile Drug related morbidity & mortality intervention Advanced disease screening and targeted therapeutic intervention Genetic based vaccine development Patient satisfaction and preference Health economic evaluations Practical and organizational issues in the development and implementation of personalized medicine programs.
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