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CYP19A1 基因遗传变异与卒中易感性的病例对照研究:中国汉族人群。

Genetic Variations of CYP19A1 Gene and Stroke Susceptibility: A Case-Control Study in the Chinese Han Population.

机构信息

Department of Neurosurgery and Institute for Functional Brain Disorders, Tangdu Hospital, Fourth Military Medical University, Xi'an, People's Republic of China.

Department of Internal Medicine, Affiliated Hospital of Xizang Minzu University, Xianyang, Shaanxi, China.

出版信息

J Cardiovasc Pharmacol. 2020 Apr;75(4):344-350. doi: 10.1097/FJC.0000000000000793.

DOI:10.1097/FJC.0000000000000793
PMID:31895872
Abstract

OBJECTIVE

This study aimed to explore the association between genetic variations of CYP19A1 and stroke susceptibility in the Chinese Han population.

METHODS

A total of 477 stroke patients and 480 healthy controls were recruited in this study. The genotyping of CYP19A1 polymorphisms (rs4646, rs6493487, rs1062033, rs17601876, and rs3751599) was performed by the Agena MassARRAY platform. Under logistic regression models, we evaluated the associations of CYP19A1 polymorphisms and stroke susceptibility by odds ratio and 95% confidence interval.

RESULTS

Our study showed that rs4646 (codominant: P = 0.020; recessive: P = 0.016) and rs17601876 (allele: P = 0.044; codominant: P = 0.011; dominant: P = 0.009; recessive: P = 0.046) significantly decreased the risk of stroke. In the stratification analysis, rs4646 is associated with decreased stroke risk among the individuals older than 64 years (codominant: P = 0.028; recessive: P = 0.010) and women (codominant: P = 0.029; recessive: P = 0.029), whereas rs1062033 increased stroke risk in the subgroup of age 64 years and younger (recessive: P = 0.042). The rs17601876 polymorphism has a strong relationship with stroke susceptibility, which is age and gender dependent. In haplotype analysis, we found a block (rs17601876 and rs3751599), and Ars17601876Grs3751599 haplotype is related to an increased stroke risk (P < 0.05). In addition, CYP19A1 variations had effects on clinical characteristics.

CONCLUSION

CYP19A1 polymorphisms were significantly associated with stroke susceptibility in the Chinese Han population.

摘要

目的

本研究旨在探讨 CYP19A1 基因变异与中国汉族人群中风易感性的关系。

方法

本研究共纳入 477 例中风患者和 480 例健康对照。采用 Agena MassARRAY 平台对 CYP19A1 多态性(rs4646、rs6493487、rs1062033、rs17601876 和 rs3751599)进行基因分型。采用 logistic 回归模型,通过比值比和 95%置信区间评估 CYP19A1 多态性与中风易感性的关系。

结果

本研究显示 rs4646(共显性:P = 0.020;隐性:P = 0.016)和 rs17601876(等位基因:P = 0.044;共显性:P = 0.011;显性:P = 0.009;隐性:P = 0.046)显著降低了中风的风险。在分层分析中,rs4646 与 64 岁以上人群(共显性:P = 0.028;隐性:P = 0.010)和女性(共显性:P = 0.029;隐性:P = 0.029)中风风险降低有关,而 rs1062033 则增加了 64 岁以下人群的中风风险(隐性:P = 0.042)。rs17601876 多态性与中风易感性密切相关,且与年龄和性别有关。在单体型分析中,我们发现了一个块(rs17601876 和 rs3751599),并且 Ars17601876Grs3751599 单体型与中风风险增加有关(P < 0.05)。此外,CYP19A1 变异与临床特征有关。

结论

CYP19A1 多态性与中国汉族人群中风易感性显著相关。

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