Background: The genetic factors that contribute to ischemic heart disease (IHD) are poorly understood, and it is likely that multiple genes acting independently or synergistically contribute to the risk of IHD and outcome. The genes for angiotensin-converting enzyme (ACE) and apolipoprotein E (ApoE) have been implicated independently in the risk of IHD.
Hypothesis: This study examined whether genetic polymorphisms in the ACE and ApoE genes are associated with early onset IHD. Polymorphisms in a third gene, transforming growth factor beta 2 (TGF beta 2), with a known role in wound repair and cardiac development, are also examined with respect to early onset IHD.
Methods: In all, 101 patients with IHD and onset of disease before 55 years for men and 60 years for women, and 100 controls with angiographically confirmed normal coronary arteries were recruited for this study. The ACE, ApoE, and TGF beta 2 genotypes were determined by polymerase chain reaction amplification or Southern blotting and were compared with the patient's clinical and family histories.
Results And Conclusion: The frequency of the ACE D allele was significantly lower in the patient group (0.475) than in the control group (0.59, p = 0.03), which was attributed to a reduction in the number of patients with the DD genotype (patients: 24% DD, controls: 33% DD). Sudden cardiac death was also associated with the DD genotype. These data are consistent with the ACE D allele contributing to a fatal outcome. No association between the DD genotype and risk of myocardial infarction, presenting age, extent of vessel disease, family history, hypertension, or hypercholesterolemia was seen. Analysis of the ApoE genotype showed no association with early onset IHD. There was no evidence for a synergistic effect between the ACE and ApoE genotypes on the risk of early onset IHD. A polymorphism in the TGF beta 2 gene was rare and not associated with early onset IHD.
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http://dx.doi.org/10.1002/clc.4960211109 | DOI Listing |
Clin Rheumatol
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Department of Pediatric Rheumatology, Gazi University Faculty of Medicine, 06500, Besevler, Ankara, Turkey.
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Earth Sciences, Western University, London, Canada.
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January 2025
Department of Medicine and Surgery, Urology Clinic, University of Perugia.
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Departments of Medicine and Neurology, Melbourne Brain Centre @ The Royal Melbourne Hospital, University of Melbourne, AUSTRALIA.
There is limited data on ultra-early hematoma growth dynamics and its clinical relevance in primary intracerebral hemorrhage (ICH). We aimed to estimate the incidence of hematoma expansion (HE) within the hyperacute period of ICH, describe hematoma dynamics over time, investigate the associations between ultra-early HE and clinical outcomes after ICH, and assess the effect of tranexamic acid on ultra-early HE. We performed a planned secondary analysis of the STOP-MSU international multicenter randomized controlled trial.
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January 2025
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Gaucher disease (GD) is a rare lysosomal storage disorder resulting from a deficiency of the lysosomal enzyme glucocerebrosidase caused by biallelic variants in the gene. Patients may present with a wide spectrum of disease manifestations, including hepatosplenomegaly, thrombocytopenia, bone manifestations, and in the case of GD types 2 and 3, neurodegeneration, cognitive delay, and/or oculomotor abnormalities. While there is no treatment for neuronopathic GD, non-neuronopathic manifestations can be efficiently managed with enzyme replacement therapy or substrate reduction therapy.
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