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Objective: The purpose of this study was to investigate associations between two single nucleotide polymorphisms (SNPs) rs505922 and rs532436 in ABO gene and the risk of small artery occlusion stroke (SAO) in southern Chinese Han population.
Methods: Our case-control study comprising 121 patients with SAO and 136 controls. All participants were Han population of southern China. IS sub-type was defined on the basis of the TOAST criteria. SAO was strictly diagnosed after a systematic physical examination and neuroimaging via MRI. Genotype analysis was conducted by the snapshot technique.
Results: The distribution of rs532436 genotype between these two groups showed a statistically significant difference (P = 0.048) while that of rs505922 genotype showed no significant difference (P = 0.572). SNP rs532436 was significantly associated with SAO in overdominant model (GA vs. GG + AA) after adjusting for age, hypertension history, diabetes history and cigarette smoking (adjusted OR = 2.03, 95% CI: 1.14-3.62, P = 0.016). However, under all genetic models, the rs505922 polymorphism failed to show association with SAO.
Conclusion: The resultsindicate that rs532436 polymorphism in ABO gene may have association with SAO in southern Chinese Han population.
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http://dx.doi.org/10.1016/j.gene.2020.145211 | DOI Listing |
Sci Adv
September 2025
Faculty of Science and Engineering, Cell Biology, Åbo Akademi University, Turku, Finland.
Breast cancer is hallmarked by phenotypic transitions enabling abnormal cell proliferation and invasion. The stress-protective transcription factor heat shock factor 2 (HSF2) is associated with cancer, but its function in breast carcinogenesis remains poorly understood. Analysis of human breast tumor samples and mouse in vivo xenografts uncovered that HSF2 expression and activity undergo dynamic changes as a function of tumor progression.
View Article and Find Full Text PDFSci Rep
August 2025
Department of Food Science and Nutrition, Ethiopian Institute of Agricultural Research, Addis Ababa, Ethiopia.
The COVID-19 pandemic gave insight into how host genetics influence the ability to get infected and how severe the infection will be if contracted. Among these, the HLA polymorphisms and ABO blood groups are known to influence the immune system. This study examines the correlation between HLA-B genotypes, blood groups, and the severity of COVID-19.
View Article and Find Full Text PDFPathogens
July 2025
Department of Infection and Immunity, Research Centre, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Background: COVID-19 is associated with coagulopathy and increased mortality. The ABO blood group system has been implicated in modulating susceptibility to SARS-CoV-2 infection and disease severity, but its relationship with viral RNAemia, spike gene mutations, and thrombosis remains underexplored.
Methods: We analyzed 446 hospitalized COVID-19 patients between 2021 and 2022.
Transfusion
August 2025
School of Medicine, Trinity College Dublin, Dublin, Ireland.
Background: The ABO blood group system is associated with differential susceptibility to thrombotic vascular diseases. ABO is also known to be a strong trans-protein quantitative trait locus for plasma proteins involved in cell adhesion and hemostasis.
Study Design And Method: To further investigate these associations, we integrated epigenomic, genomic, and proteomic data from the Milieu Intérieur cohort.
Blood
August 2025
Institut national de la santé et de la recherche médicale (Inserm), Saint-Etienne, France.
Desmopressin is often administered to correct factor VIII (FVIII) levels in female hemophilia A carriers (HAC). However, the post-desmopressin FVIII pharmacokinetic profiles have been reported only in small case series in this population. Therefore, this study analyzed the post-desmopressin FVIII and von Willebrand factor response in 361 HAC included at 14 French hemophilia treatment centers.
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