Genetic variation in angiotensin-converting enzyme 2 gene is associated with extent of left ventricular hypertrophy in hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy, a common, inherited cardiac muscle disease, is primarily caused by mutations in sarcomeric protein-encoding genes and is characterized by overgrowth of ventricular muscle that is highly variable in extent and location. This variability has been partially attributed to locus and allelic heterogeneity of the disease-causing gene, but other factors, including unknown genetic factors, also modulate the extent of hypertrophy that develops in response to the defective sarcomeric functioning. Components of the renin-angiotensin-aldosterone system are plausible candidate hypertrophy modifiers because of their role in controlling blood pressure and biological effects on cardiomyocyte hypertrophy.

• Publication year

  2008

• Venue

  Human Genetics

• Publication date

  2008-06-17

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/s00439-008-0524-6PMID 18560893PMCID 2469277
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Troponin T and beta-myosin mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy.

  2008cited by this paper
• Genetic Association Studies

  2008influential reference
• Polymorphisms of angiotensin-converting enzyme 2 gene associated with magnitude of left ventricular hypertrophy in male patients with hypertrophic cardiomyopathy.

  2008cited by this paper
• Heritability of Cardiovascular and Personality Traits in 6,148 Sardinians

  2006cited by this paper
• Association study of ACE2 (angiotensin I-converting enzyme 2) gene polymorphisms with coronary heart disease and myocardial infarction in a Chinese Han population.

  2006cited by this paper
• [Association of angiotensin I converting enzyme 2 gene polymorphism with essential hypertension in Chinese].

  2005cited by this paper
• Measured haplotype analysis of the aldosterone synthase gene and heart size

  2005cited by this paper
• Genetic association studies.

  2005cited by this paper
• Association of angiotensin-converting enzyme 2 (ACE2) gene polymorphisms with parameters of left ventricular hypertrophy in men

  2005influential reference
• No association of Angiotensin-Converting enzyme 2 gene (ACE2) polymorphisms with essential hypertension

  2004cited by this paper
• Modifier genes for hypertrophic cardiomyopathy.

  2002cited by this paper
• Genetic polymorphisms in the renin-angiotensin-aldosterone system associated with expression of left ventricular hypertrophy in hypertrophic cardiomyopathy: a study of five polymorphic genes in a family with a disease causing mutation in the myosin binding protein C gene

  2002cited by this paper
• Interpretation of genetic association studies in complex disease

  2002cited by this paper
• Electrocardiographic measures of left ventricular hypertrophy show greater heritability than echocardiographic left ventricular mass.

  2002cited by this paper
• A polymorphic modifier gene alters the hypertrophic response in a murine model of familial hypertrophic cardiomyopathy.

  2001cited by this paper
• The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.

  1999cited by this paper
• Transesophageal echocardiography.

  1989cited by this paper
• Recommendations for quantitation of the left ventricle by two-dimensional echocardiography. American Society of Echocardiography Committee on Standards, Subcommittee on Quantitation of Two-Dimensional Echocardiograms.

  1989influential reference

• Search for genetic predictors of acute coronary syndrome in patients after coronavirus disease 2019

  2024cites this paper
• Identification and validation of pyroptosis-related genes as potential biomarkers for hypertrophic cardiomyopathy: A comprehensive bioinformatics analysis

  2024cites this paper
• Study of Association of the ace2 Polymorphisms rs2285666, rs879922, and rs1978124 with Muscle Strength in Sedentary Young Adult

  2023cites this paper
• Angiotensin-converting enzyme 2 G8790A polymorphisms are associated with COVID-19 severity.

  2023cites this paper
• Susceptibilities of Human ACE2 Genetic Variants in Coronavirus Infection

  2021cites this paper
• Genetics of inherited cardiomyopathies in Africa.

  2020cites this paper
• Vasculopathy and Coagulopathy Associated with SARS-CoV-2 Infection

  2020cites this paper
• Angiotensin-converting enzyme (ACE1, ACE2) gene variants are associated with COVID19 severity depending on the hypertension status.

  2020cites this paper
• Allele Frequency of ACE2 Intron Variants and Its Association with Blood Pressure

  2020cites this paper
• Angiotensin-converting enzymes (ACE, ACE2) gene variants and COVID-19 outcome

  2020cites this paper
• Heart Failure in Sub-Saharan Africa

  2019influential citation
• Hypertrophic Cardiomyopathy: An Overview of Genetics and Management

  2019cites this paper
• Genetic variation at the long noncoding RNA H19 gene is associated with the risk of hypertrophic cardiomyopathy.

  2018cites this paper
• Phenotypic diversity identified by cardiac magnetic resonance in a large hypertrophic cardiomyopathy family with a single MYH7 mutation

  2018cites this paper
• Titin-Truncating Variants Increase the Risk of Cardiovascular Death in Patients With Hypertrophic Cardiomyopathy.

  2017cites this paper
• MYBPH acts as modifier of cardiac hypertrophy in hypertrophic cardiomyopathy (HCM) patients

  2016cites this paper
• ACE2 and Microbiota: Emerging Targets for Cardiopulmonary Disease Therapy

  2015cites this paper
• Angiotensin-converting enzyme 2 and angiotensin 1–7: novel therapeutic targets

  2014cites this paper
• ACE2: Angiotensin II/Angiotensin-(1–7) Balance in Cardiac and Renal Injury

  2014cites this paper
• The ACE2 gene: its potential as a functional candidate for cardiovascular disease.

  2013cites this paper
• Progress in the Molecular Genetics of Hypertrophic Cardiomyopathy: A Mini-Review

  2013cites this paper
• Recent advances in the epidemiology, pathogenesis and prognosis of acute heart failure and cardiomyopathy in Africa

  2013cites this paper
• Identification of novel sarcomeric modifiers of hypertrophy in hypertrophic cardiomyopathy using the yeast two-hybrid system

  2013influential citation
• Formin Homology 2 Domain Containing 3 Variants Associated With Hypertrophic Cardiomyopathy

  2013cites this paper
• Effects of Aerobic Exercise Training on Cardiac Renin-Angiotensin System in an Obese Zucker Rat Strain

  2012cites this paper
• Formin Homology 2 Domain Containing 3 ( FHOD 3 ) Variants Associated with Hypertrophic Cardiomyopathy

  2012cites this paper
• Renin-angiotensin-aldosterone system genes and the complex hypertrophic phenotype of hypertrophic cardiomyopathy

  2012influential citation
• Genetic variation in angiotensin II type 2 receptor gene influences extent of left ventricular hypertrophy in hypertrophic cardiomyopathy independent of blood pressure

  2011cites this paper
• Miocardiopatia Hipertrófica: novas metodologias aplicadas ao diagnóstico genético

  2011cites this paper
• The statistical theory underlying human genetic linkage analysis based on quantitative data from extended families

  2010cites this paper
• Hypertrophic cardiomyopathy: An often missed diagnosis in athletes

  2010cites this paper
• Desnaturação de Alta Resolução Aplicada ao Diagnóstico Genético de Miocardiopatia Hipertrófica

  2010cites this paper
• Mitral valve abnormalities identified by cardiovascular magnetic resonance represent a primary phenotypic expression of hypertrophic cardiomyopathy

  2010cites this paper
• Mendelian-inherited heart disease: a gateway to understanding mechanisms in heart disease Update on work done at the University of Stellenbosch

  2009cites this paper
• A New Era in Clinical Genetic Testing for Hypertrophic Cardiomyopathy

  2009cites this paper
• Angiotensin‐converting enzyme 2 in the brain: properties and future directions

  2008cites this paper