We investigated polymorphisms of plasminogen activator inhibitor-1 (PAI-1), angiotensin converting enzyme (ACE ) and coagulation factor XIII (FXIII) genes and their association with recurrent spontaneous abortion (RSA) in Iranian patients and normal healthy controls. Ten (18.5%) patients were homozygote (4G/4G) for PAI-1 polymorphism, in contrast with two (2%) controls (p = 0.001). Patients with homozygote 4G mutation were significantly more prone to RSA in contrast to others (odds ratio: 11.0, 95% CI: 2.3-52.4). Nineteen (30.2%) patients and 25 (26.6%) controls were homozygote (DD) for ACE polymorphism. We observed only two patients and one control with homozygosity (34leu) for FXIII polymorphism. 4G/4G polymorphism for PAI-1 gene could be a thrombophilic mutation leading to abortion in Iranian population.
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http://dx.doi.org/10.3109/14767058.2010.511331 | DOI Listing |
Cureus
December 2024
Internal Medicine Department, Hospital Beatriz Ângelo, ULS Loures Odivelas, Loures, PRT.
Plasminogen activator inhibitor-1 (PAI-1) is central to fibrinolysis regulation, and genetic variants such as the 4G/4G genotype predispose individuals to hypercoagulability. This case highlights a 46-year-old female patient presenting with acute mesenteric venous thrombosis, where genetic evaluation revealed homozygosity for the PAI-1 4G/4G polymorphism. Management with unfractionated heparin followed by a transition to direct oral anticoagulants led to clinical resolution.
View Article and Find Full Text PDFCancer Med
January 2025
Cancer Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
Background: This study aims to elucidate the expression pattern of SERPINE1, assess its prognostic significance, and explore potential therapeutic drugs targeting this molecule.
Methods And Results: In this study, we delved into the variations in gene mutation, methylation patterns, and expression levels of SERPINE1 in head and neck squamous cell carcinoma (HNSCC) and normal tissues, leveraging comprehensive analyses of The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO) datasets. The connection between the biological function of the gene and prognosis was scrutinized through immune infiltration and enrichment analyses.
Background: Smoking is a factor for hypertension. We aim to reveal novel plasma proteins mediating the relationship of smoking with hypertension and identify potential drug targets for hypertension on the basis of Mendelian randomization design.
Methods And Results: Data for smoking were selected from the largest genome-wide association study meta-analysis performed by the Genome-Wide Association Study and Sequencing Consortium of Alcohol and Nicotine Use.
Int J Mol Sci
October 2024
Department of Biomedical Science, College of Life Science, CHA University, Seongnam 13488, Republic of Korea.
ESC Heart Fail
November 2024
Department of Cardiology, Hospital of Anhui Medical University, Hefei, China.
Aims: Inflammation plays a critical role in both the development and progression of heart failure (HF), which is a leading cause of morbidity and mortality worldwide. However, the causality between specific inflammation-related proteins and HF risk remains unclear. This study aims to investigate the genetically supported causality between inflammatory proteins and HF using a two-sample Mendelian randomization (MR) analysis.
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