The association of HIF1A gene polymorphism and its expression with ischemic stroke

Abstract Hypoxia-inducible factor 1 A (HIF1A) is considered as a potential marker gene for ischemic stroke (IS), its gene polymorphism may affect IS risk and may be related to the IS pathological process. In this study, a total of 159 IS patients and 141 healthy controls were enrolled by case-contro...

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Main Authors: Fengjiao Yang, Yun Gu, Ya Yan, Pengyu Wang, Min Wang, Jianjie Chen, Xiaoshan Du, Guangming Wang
Format: Article
Language:English
Published: Nature Portfolio 2025-04-01
Series:Scientific Reports
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Online Access:https://doi.org/10.1038/s41598-025-99418-6
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author Fengjiao Yang
Yun Gu
Ya Yan
Pengyu Wang
Min Wang
Jianjie Chen
Xiaoshan Du
Guangming Wang
author_facet Fengjiao Yang
Yun Gu
Ya Yan
Pengyu Wang
Min Wang
Jianjie Chen
Xiaoshan Du
Guangming Wang
author_sort Fengjiao Yang
collection DOAJ
description Abstract Hypoxia-inducible factor 1 A (HIF1A) is considered as a potential marker gene for ischemic stroke (IS), its gene polymorphism may affect IS risk and may be related to the IS pathological process. In this study, a total of 159 IS patients and 141 healthy controls were enrolled by case-control study method. HIF1A three single nucleotide polymorphisms (SNPs: rs10873142, rs11549465, rs11549467) were genotyped by SNaPshot method and HIF1A protein levels was detected by enzyme-linked immunosorbent assay (ELISA), then the correlation between HIF-1 A SNPs and IS was analyzed by statistical analysis method. The genotype of HIF1A SNPs can affect the expression levels of clinical and laboratory parameters in IS patients, such as high-density lipoproteincholesterol (HDL-C), apolipoprotein A1, reactive oxygen species (ROS). HIF1A TCG haplotype is a protective factor for IS, HIF1A CCG haplotype is a risk factor for IS. However, the association between HIF1A rs10873142, rs11549465, rs11549467 genotypes and the IS risk was not statistically significant. ELISA analysis showed that the HIF1A expression of IS patients is higher than the healthy controls. Therefore, the gene polymorphism and expression of HIF1A may be related to IS pathological process, but the relationship between HIF1A gene polymorphism and the IS risk still needs further study.
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spelling doaj-art-4ad20f60f0574e2dbf39d8d2872543042025-08-20T02:19:57ZengNature PortfolioScientific Reports2045-23222025-04-0115111210.1038/s41598-025-99418-6The association of HIF1A gene polymorphism and its expression with ischemic strokeFengjiao Yang0Yun Gu1Ya Yan2Pengyu Wang3Min Wang4Jianjie Chen5Xiaoshan Du6Guangming Wang7School of Clinical Medicine, Dali UniversityDepartment of Pharmacy, The First Affiliated Hospital of Dali UniversityCollege of Pharmacy, Dali UniversitySchool of Clinical Medicine, Dali UniversitySchool of Clinical Medicine, Dali UniversitySchool of Clinical Medicine, Dali UniversityDepartment of Geriatrics, South District of Hefei First People’s HospitalSchool of Clinical Medicine, Dali UniversityAbstract Hypoxia-inducible factor 1 A (HIF1A) is considered as a potential marker gene for ischemic stroke (IS), its gene polymorphism may affect IS risk and may be related to the IS pathological process. In this study, a total of 159 IS patients and 141 healthy controls were enrolled by case-control study method. HIF1A three single nucleotide polymorphisms (SNPs: rs10873142, rs11549465, rs11549467) were genotyped by SNaPshot method and HIF1A protein levels was detected by enzyme-linked immunosorbent assay (ELISA), then the correlation between HIF-1 A SNPs and IS was analyzed by statistical analysis method. The genotype of HIF1A SNPs can affect the expression levels of clinical and laboratory parameters in IS patients, such as high-density lipoproteincholesterol (HDL-C), apolipoprotein A1, reactive oxygen species (ROS). HIF1A TCG haplotype is a protective factor for IS, HIF1A CCG haplotype is a risk factor for IS. However, the association between HIF1A rs10873142, rs11549465, rs11549467 genotypes and the IS risk was not statistically significant. ELISA analysis showed that the HIF1A expression of IS patients is higher than the healthy controls. Therefore, the gene polymorphism and expression of HIF1A may be related to IS pathological process, but the relationship between HIF1A gene polymorphism and the IS risk still needs further study.https://doi.org/10.1038/s41598-025-99418-6HIF1AIschemic strokeSNPsGene polymorphism
spellingShingle Fengjiao Yang
Yun Gu
Ya Yan
Pengyu Wang
Min Wang
Jianjie Chen
Xiaoshan Du
Guangming Wang
The association of HIF1A gene polymorphism and its expression with ischemic stroke
Scientific Reports
HIF1A
Ischemic stroke
SNPs
Gene polymorphism
title The association of HIF1A gene polymorphism and its expression with ischemic stroke
title_full The association of HIF1A gene polymorphism and its expression with ischemic stroke
title_fullStr The association of HIF1A gene polymorphism and its expression with ischemic stroke
title_full_unstemmed The association of HIF1A gene polymorphism and its expression with ischemic stroke
title_short The association of HIF1A gene polymorphism and its expression with ischemic stroke
title_sort association of hif1a gene polymorphism and its expression with ischemic stroke
topic HIF1A
Ischemic stroke
SNPs
Gene polymorphism
url https://doi.org/10.1038/s41598-025-99418-6
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