Track topics on Twitter Track topics that are important to you
To evaluate whether sequence variants and selected cardiac ion channel genes are associated with risk of sudden cardiac death in the general population.
Sudden cardiac death (SCD) affects 400,000 individuals each year in the U.S. alone. Over half have no evidence of heart disease prior to death, and the ability to identify those at risk and therefore prevent SCD is poor. Mutations in cardiac ion channel genes including SCN5A, KVLQT1, HERG, KCNE1, KCNE2, and RyR2 have been implicated in monogenic traits with a high risk of SCD, such as the long-QT, Brugada, sudden infant death syndrome, and catecholaminergic polymorphic ventricular tachycardia. Alterations in ion channel function can result in life-threatening ventricular arrhythmias in diverse disease states. Therefore, sequence variants in these genes that alter function or transcription of these ion channels may confer a predisposition to ventricular arrhythmia and SCD in broader populations.
This study will determine if sequence variants in the cardiac ion channel genes are associated with an increased risk of sudden cardiac death in apparently healthy populations. Cases of sudden cardiac death will be assembled from five NIH-funded prospective cohorts with a total of 106,314 individuals with existent blood samples. All cohorts are exceptionally well characterized with respect to environmental exposures and have collected medical records on cardiovascular endpoints. The investigators will characterize all coding sequence variation and selected non-coding sequence variation among 100 cases and controls from these cohorts. Using these novel markers, they will define the haplotype block structure (SNPs in linkage disequilibrium) for the six cardiac ion channel genes, including SCN5A, KVLQT1, HERG, KCNE1, KCNE2, and RyR2. They will then employ a nested case-control design and conditional logistic regression to test for associations between haplotypes (haplotype tag SNPs) in both coding and non-coding regions and sudden cardiac death risk. They will also test directly for associations between single loci that may have functional significance and sudden cardiac death risk. An estimated 600 cases of well-documented sudden cardiac death will be confirmed over the first three years of the grant period, and these cases will be matched on age, sex, ethnicity, and geographic location to two control subjects from the same cohort. In addition, based upon known sex-differences in the phenotypic expression of the candidate genes in the primary arrhythmic disorders, the investigators will specifically examine sex-differences in the risk of sudden cardiac death associated with sequence variation in these genes. The findings generated will have substantial implications for our understanding of the sudden cardiac death syndrome and risk stratification in the general population.
National Heart, Lung, and Blood Institute (NHLBI)
Published on BioPortfolio: 2014-07-23T21:52:20-0400
Human immunodeficiency virus (HIV) infection has been associated with a variety of cardiovascular diseases. Even most industrialised countries exhibit a growing and aging population of HIV...
This study evaluates the effects of different volumes of aerobic exercise training in cardiovascular parameters of patients with cardiovascular diseases enrolled in a cardiac rehabilitatio...
To develop a comprehensive protocol for assessing cardiovascular reactivity to stressors, for use in epidemiological and clinical investigations of cardiovascular diseases in healthy popul...
The Silesian Cardiovascular Database is an observational study of all patients hospitalized due to cardiovascular diseases. The date include information on the clinical characteristics, tr...
The incidence of cardiovascular diseases is still high and further efforts should be done in primary prevention. The main objective is to quantify the burden of subclinical atherosclerosis...
Cardiovascular diseases possess a major cause for fatality and disability the world over. Since last several decades, the rates of cardiovascular diseases-related deaths have decreased in a number of ...
Although alexithymia has been suggested to be associated with cardiovascular diseases, studies are scarce and a causal relationship is questionable. This study explored the prospective association bet...
To examine the trend of cardiovascular diseases (CVD) risk factors among a Middle Eastern population with prevalent CVD during a median follow up of 12 years.
Cardiovascular disease is a primary cause of mortality worldwide. Therefore, it is of major interest to identify sensitive molecular markers that predict cardiovascular events and point to therapeutic...
Evaluation of the effectiveness of risk management in persons with high cardiovascular risk is an important element in reducing the death rate of the population from cardiovascular diseases (CVD).
Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM.
Methods and procedures for the diagnosis of diseases or dysfunction of the cardiovascular system or its organs or demonstration of their physiological processes.
Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as CHEST PAIN and CARDIAC ARRHYTHMIAS, particularly VENTRICULAR TACHYCARDIA, can lead to the loss of consciousness and cardiac arrest followed by biological death. (from Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 7th ed., 2005)
Dental care for patients with chronic diseases. These diseases include chronic cardiovascular, endocrinologic, hematologic, immunologic, neoplastic, and renal diseases. The concept does not include dental care for the mentally or physically disabled which is DENTAL CARE FOR DISABLED.
Blood pressure levels that are between normotension and hypertension. Individuals with prehypertension are at a higher risk for developing cardiovascular diseases. Generally, prehypertension is defined as SYSTOLIC PRESSURE of 131-139 mm Hg and/or DIASTOLIC PRESSURE of 81-89 when the optimal is 120/80 mm Hg. For diabetics and other metabolism diseases the prehypertension is around 110-129/70-79 mm Hg.
Cardiology is a specialty of internal medicine. Cardiac electrophysiology : Study of the electrical properties and conduction diseases of the heart. Echocardiography : The use of ultrasound to study the mechanical function/physics of the h...