| 黄朝任1，邹光美2▲，宾广健1，罗宇飞1，杨韩燕1，陆日秋1.缺氧诱导因子-1α基因多态性与急性缺血性脑卒中遗传易感性研究[J].中国医药科学,2024,14(11):9-12 基金项目:广西壮族自治区卫生健康委员会自筹经费科研课题（Z20200376） |
| 缺氧诱导因子-1α基因多态性与急性缺血性脑卒中遗传易感性研究 |
| Study on gene polymorphism of hypoxia inducible factor-1α and genetic susceptibility to acute ischemic stroke |
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| DOI： |
| 中文关键词: 缺氧诱导因子-1α；急性缺血性脑卒中；基因多态性；基因型；等位基因 |
| 英文关键词:Hypoxia inducible factor-1α; Acute ischemic stroke; Gene polymorphism; Genotype; Alleles |
| 作者 | 单位 | | 黄朝任1，邹光美2▲，宾广健1，罗宇飞1，杨韩燕1，陆日秋1 | 1.广西壮族自治区玉林市中医医院检验科，广西玉林 537000；
2.广西壮族自治区玉林市第一人民医院检验科，广西玉林 537000 |
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| 中文摘要: |
| [摘要] 目的 探讨缺氧诱导因子-1α（HIF-1α）基因C1772T位点及G1790A位点基因多肽性与急性缺血性脑卒中（AIS）的遗传易感性。 方法 选取2020年7月至2022年12月在玉林市中医医院就诊的AIS患者154例作为AIS组，选取同期体检健康者154名作为对照组，比较两组的两个位点基因型和等位基因的分布频率，分析两个位点单核苷酸多态性与AIS遗传易感性的关系。 结果 对照组男、女性别间及两组男性间HIF-1α-C1772T位点的基因型及等位基因分布频率，差异有统计学意义（P < 0.05）。两组性别间G1790A位点的基因型及等位基因分布频率，差异无统计学意义（P > 0.05）。二元logistic回归分析结果显示，C1772T位点的CT基因型与AIS患病风险无关（P > 0.05），而T等位基因是AIS患病的保护因素（OR=0.527，P < 0.05）。G1790A位点的GA基因型与AIS 患病风险无关（P > 0.05），而A等位基因是AIS患病的保护因素（OR=0.741，P < 0.05）。 结论 HIF-1α的C1772T基因型及两个位点的T、A等位基因与AIS遗传易感性密切相关，而G1790A位点的基因型与AIS患病风险无关。 |
| 英文摘要: |
| [Abstract] Objective To investigate the polymorphism of C1772T and G1790A loci in hypoxia-inducible factor-1α (HIF-1α) gene and the genetic susceptibility to acute ischemic stroke (AIS). Methods A total of 154 AIS patients who visited Traditional Chinese Medicine Hospital of Yulin from July 2020 to December 2022 were selected as the AIS group, and 154 healthy individuals who underwent physical examinations during the same period were selected as the control group. The distribution frequencies of two genotypes and alleles at two loci were compared between the two groups, and the relationship between single nucleotide polymorphisms at two loci and genetic susceptibility to AIS was analyzed. Results The genotype and allele distribution frequency of HIF-1α-C1772T locus were significantly different between men and women in the control group and between the two groups of men (P < 0.05). There was no significant difference in genotype and allele distribution frequency of G1790A locus between the two groups (P > 0.05). The results of binary Logistic regression analysis showed that the CT genotype of C1772T locus had nothing to do with the risk of AIS (P > 0.05), while the T allele was the protective factor of AIS (OR=0.527, P < 0.05). The GA genotype of G1790A locus was not related to the risk of AIS (P > 0.05), while the A allele was the protective factor of AIS (OR=0.741, P < 0.05). Conclusion The C1772T genotype of HIF-1α and the T and A alleles of two loci are closely related to the genetic susceptibility to AIS, while the genotype of G1790A locus has nothing to do with the risk of AIS. |
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