The gene encodes the regulatory subunit of NADPH oxidase, which maintains the redox state within cells and in the blood vessels. That led us to investigate the course of coronary artery disease (CAD) with regards to polymorphisms. Thus, we recruited 1197 subjects with coronary atherosclerosis and observed them during 7-year follow-up. Three polymorphisms: c.214C>T (rs4673), c.-932G>A (rs9932581), and c.*24G>A (1049255) were studied for an association with death, major adverse cardiovascular events (MACE) and an elective percutaneous coronary intervention or coronary artery bypass grafting (PCI/CABG). We found an association between the c.214C>T polymorphism and two end points: death and PCI/CABG. c.214TT genotype was associated with a lower risk of death than C allele (9.5% vs. 21%, < 0.05) and a higher risk of PCI/CABG than C allele (69.3% vs. 51.7%, < 0.01). This suggests that the c.214TT genotype may be a protective factor against death OR = 0.47 (95%CI 0.28-0.82; < 0.01), while also being a risk factor for an elective PCI/CABG OR = 2.36 (95%CI 1.15-4.82; < 0.05). Thus, we hypothesize that among patients with coronary atherosclerosis, the c.214TT genotype contributes to atherosclerotic plaque stability by altering the course of CAD towards chronic coronary syndrome, thereby lowering the incidence of fatal CAD-related events.
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http://dx.doi.org/10.3390/jcm9051475 | DOI Listing |
Curr Microbiol
December 2024
Yunnan Institute of Microbiology, Chenggong Campus of Yunnan University, Chenggong District, Kunming, 650500, China.
A Gram-stain-positive, aerobic, yellow-pigmented, catalase-positive, oxidase-positive, non-motile with no flagella and irregularly rod-shaped, denominated strain YIM 134122, was isolated from a Stereocaulon tomentosum Fr. lichen gathered on Baima Snow Mountain in Diqing Tibetan Autonomous Prefecture, Yunnan Province, China. The novel strain grew at pH 6.
View Article and Find Full Text PDFAnn Med
December 2025
Department of Hematology, The First Affiliated Hospital of Zhejiang Chinese Medical University (Zhejiang Provincial Hospital of Chinese Medicine), Hangzhou, China.
Objectives: Platelet transfusion refractoriness (PTR) is a frustrating clinical problem, and primary and persistent (P/P) PTR who experienced persistent PTR since the first transfusion was failed to be well recognized. This study aims to investigate the incidence and risk factors for P/P PTR.
Methods: Patients with hematologic disorders who underwent HLA high-resolution genotyping and donor-specific HLA antibody or panel reactive antibody (PRA) testing between January 2019 and March 2023 were reviewed.
Genet Med
December 2024
Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA. Electronic address:
Objectives: Biallelic HPDL variants have been identified as the cause of a progressive childhood-onset movement disorder, with a broad clinical spectrum from severe neurodevelopmental disorder to juvenile-onset pure hereditary spastic paraplegia type 83. This study aims at delineating the geno- and phenotypic spectra of patients with HPDL-related disease, quantitatively modelling the natural history, and uncovering genotype-phenotype associations.
Methods: A cross-sectional analysis of 90 published and one novel case was performed, employing a Human Phenotype Ontology-based approach.
Ann Med
December 2025
Department of Anatomy, College of Medicine, King Khalid University, Abha, Saudi Arabia.
Background: Substance use disorders are multifaceted conditions influenced by both genetic and environmental factors. Serotonergic pathways are known to be involved in substance use disorder susceptibility, with genetic markers within serotonin receptor genes identified as potential risk factors.
Methods: To further explore this relationship, we conducted a study to investigate the association between several polymorphisms in five serotonin receptor genes (, , ) and substance use disorders (SUD) in Jordanian males by sequencing genotypes in 496 SUD patients and 496 healthy controls.
Eur J Neurol
January 2025
School of Basic Medical Sciences, Fujian Medical University, Fuzhou, China.
Background: The regulatory role of the apolipoprotein E (APOE) ε4 allele in the clinical manifestations of spinocerebellar ataxia type 3 (SCA3) remains unclear. This study aimed to evaluate the impact of the APOE ε4 allele on cognitive and motor functions in SCA3 patients.
Methods: This study included 281 unrelated SCA3 patients and 182 controls.
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