ArticleInternal and emergency medicine2012
Analysis of endothelin-1 and endothelin-1 receptor A gene polymorphisms in patients with pulmonary arterial hypertension.
Article in Internal and emergency medicine, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- A systematic review of genetic mutations in pulmonary arterial hypertension.BMC medical genetics · 2017Pooled it
- Article
- Differential drug response in pulmonary arterial hypertension: The potential for precision medicine.Pulmonary circulation · 2023Review
- Endothelin-1 gene and endothelin receptor A gene polymorphisms in severe pulmonary hypertension associated with rheumatic mitral valve disease.Archives of medical science : AMS · 2022Article
- Peripheral Arterial Stiffness in Acute Pulmonary Embolism and Pulmonary Hypertension at Short-Term Follow-Up.Journal of clinical medicine · 2021Article
- Expression of Paracrine Effectors in Human Adipose-Derived Mesenchymal Stem Cells Treated With Plasma From Brown Bears (Ursus arctos).Clinical and translational science · 2021Article
- The association of endothelin-1 gene polymorphism and its plasma levels with hypertension and coronary atherosclerosis.Archives of medical science : AMS · 2021Article
- Evaluation and Management of Pulmonary Arterial Hypertension in Congenital Heart Disease.Methodist DeBakey cardiovascular journal · 2021Review
- Lung transcriptome of a COVID-19 patient and systems biology predictions suggest impaired surfactant production which may be druggable by surfactant therapy.Scientific reports · 2020Article
- Pulmonary hypertension in left heart disease.Archives of medical science : AMS · 2019Article
- Health Disparities in Patients with Pulmonary Arterial Hypertension: A Blueprint for Action. An Official American Thoracic Society Statement.American journal of respiratory and critical care medicine · 2017Review
- Endothelin receptor polymorphisms in the cardiovascular system: potential implications for therapy and screening.Heart failure reviews · 2014Article
- Elevated blood pressure: Our family's fault? The genetics of essential hypertension.World journal of cardiology · 2014Article
- Endothelial GATA-6 deficiency promotes pulmonary arterial hypertension.The American journal of pathology · 2013Article
- Pharmacologic treatments for pulmonary hypertension: exploring pharmacogenomics.Future cardiology · 2013Review
- Pulmonary hypertension: have we learned enough yet?Internal and emergency medicine · 2012Article
- Gender differences in genotypic distribution of endothelin-1 gene and endothelin receptor A gene in pulmonary hypertension associated with rheumatic mitral valve disease.Indian heart journalArticle
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15 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This study analyses the frequency and the potential role of two polymorphisms, the +134del/insA, located in the gene encoding for Endothelin-1 (EDN1), and the His323His in the gene encoding for Endothelin receptor type A (EDNRA) in a cohort of 98 consecutive patients with pulmonary arterial hypertension from two different Cardiology Units (Mid-South of Italy), and in 100 healthy Caucasian subjects randomly recruited from the same area. Cardiac anatomy and function were analysed by non invasive diagnostic imaging techniques (Echocardiography standard m-mode, 2D, colour-Doppler) and by invasive studies (cardiac catheterization). Molecular screening of the region of interest was performed by automated sequencing. At univariate analysis, patients with the His323His TT genotype show a lower cardiac index (2 ± 0.6 vs. 2.3 ± 0.6; p = 0.05) and a higher indexed pulmonary vascular resistance (18.8 ± 9.6 vs. 14.2 ± 6.9; p = 0.01) at cardiac catheterization. A logistic multivariate model shows idiopathic disease (p = 0.01; OR = 3.8; CI = 1.3-11) and indexed pulmonary vascular resistances (p = 0.01; OR = 1.1; CI = 1-1.2) as independent predictors of TT genotype. Our findings may suggest a potential link between specific genotypes in the EDNRA gene and susceptibility for PAH.
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