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内皮素-1 基因多态性与汉族人群脑出血的遗传关系。

Genetic Relationship Between Endothelin-1 Gene Polymorphisms and Intracerebral Hemorrhage Among Chinese Han People.

机构信息

Department of Neurosurgery, Harrison International Peace Hospital, Hengshui, Hebei, China (mainland).

出版信息

Med Sci Monit. 2020 Mar 13;26:e919110. doi: 10.12659/MSM.919110.

DOI:10.12659/MSM.919110
PMID:32168316
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7092658/
Abstract

BACKGROUND The goal of the present study was to determine whether endothelin-1 (EDN1) variants are associated with intracerebral hemorrhage (ICH) risk among Chinese Han people. MATERIAL AND METHODS The genotyping of EDN1 rs5370 and rs6458155 polymorphisms were conducted in 154 ICH patients and 168 healthy controls using polymerase chain reaction (PCR) and sequencing. Deviation for genotype frequencies in controls from Hardy-Weinberg equilibrium (HWE) was assessed. The genotype and allele distribution of EDN1 polymorphisms was checked via χ² test between 2 groups. Strength of the association between EDN1 polymorphisms and ICH risk is presented by odds ratio (OR) and 95% confidence interval (95% CI). RESULTS Genotype distribution for rs5370 and rs6458155 polymorphisms in the control group both conformed to HWE (P>0.05). Only CC genotype and C allele frequencies of rs6458155 between ICH patients and healthy individuals were significantly different (P=0.025; P=0.043), indicating rs64581255 is associated with increased ICH onset (OR=2.214, 95% CI=1.009-4.461; OR=1.389, 95% CI=1.010-1.910). When adjusted by confounding factors, the significant correlations still existed between 2 groups (P=0.028, adjusted OR=2.217, 95% CI=1.092-4.500; P=0.046, adjusted OR=1.386, 95% CI=1.005-1.910). CONCLUSIONS EDN1 rs64581aEDN1 rs6458155 polymorphism may be a risk factor of ICH among Chinese Han people.55 polymorphism may be a risk factor of ICH among Chinese Han people.

摘要

背景

本研究旨在探讨内皮素-1(EDN1)基因变异是否与汉族人群的脑出血(ICH)风险相关。

材料与方法

采用聚合酶链反应(PCR)和测序技术对 154 例 ICH 患者和 168 例健康对照者的 EDN1 rs5370 和 rs6458155 多态性进行基因分型。通过 χ²检验评估对照组基因型频率是否偏离哈迪-温伯格平衡(HWE)。通过 χ²检验比较两组间 EDN1 多态性的基因型和等位基因分布。使用比值比(OR)和 95%置信区间(95%CI)表示 EDN1 多态性与 ICH 风险之间的关联强度。

结果

对照组 rs5370 和 rs6458155 多态性的基因型分布均符合 HWE(P>0.05)。仅 rs6458155 的 CC 基因型和 C 等位基因频率在 ICH 患者和健康人群之间存在显著差异(P=0.025;P=0.043),提示 rs64581255 与 ICH 发病风险增加相关(OR=2.214,95%CI=1.009-4.461;OR=1.389,95%CI=1.010-1.910)。在调整混杂因素后,两组之间仍存在显著相关性(P=0.028,调整后的 OR=2.217,95%CI=1.092-4.500;P=0.046,调整后的 OR=1.386,95%CI=1.005-1.910)。

结论

EDN1 rs64581aEDN1 rs6458155 多态性可能是汉族人群 ICH 的危险因素。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84a5/7092658/557dfe348e2d/medscimonit-26-e919110-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84a5/7092658/557dfe348e2d/medscimonit-26-e919110-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84a5/7092658/557dfe348e2d/medscimonit-26-e919110-g001.jpg

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