Polymorphisms in promoters of ion channel genes and relationship to risk of malignant arrhythmias
Project goals
The aim of this project is study of regulatory processes of human genome - to assess occurrence of polymorphisms in promoters of myocardial ion channel genes (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2 and ANK2) in 30 patients with clinical diagnosis of LQTS in whom no mutations in the coding regions of above mentioned genes were found. The next will be a high risk group of 50 patients after myocardial infarction who have survived malignant ventricular arrhythmia - the sudden cardiac death survivors. These groups will be compared with 100 healthy individuals to assess the relationship of above mentioned genes polymorphisms to sudden cardiac death risk.
Keywords
Public support
Provider
Ministry of Health
Programme
Departmental Programme of Research and Development - MH II from 2008 to 2011
Call for proposals
VaV pro Ministerstvo zdravotnictví II 2 (SMZ0200901)
Main participants
—
Contest type
VS - Public tender
Contract ID
NS10429-3/2009
Alternative language
Project name in Czech
Polymorfizmy promotorů genů pro iontové kanály a jejich vztah k riziku maligních arytmií
Annotation in Czech
Cílem projektu je výzkum regulačních procesů lidského genomu - zjistit výskyt polymorfizmů v promotorech genů pro iontové kanály myokardu (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, ANK2) u pacientů s klinickou diagnózou syndromu dlouhého QT intervalu, u nichž nebyly zjištěny mutace v kódujících oblastech těchto genů, a dále u vysoce rizikové skupiny 50 pacientů po prodělaném infarktu myokardu, kteří přežili maligní komorovou arytmii, tedy přežili náhlou srdeční smrt. Tyto skupiny budou srovnány se zdravou populací (100 jedinců) s cílem testovat vztah polymorfizmů výše uvedených genů k riziku NSS.
Scientific branches
R&D category
NV - Nonindustrial research (Applied research excluded Industrial research)
CEP classification - main branch
FA - Cardiovascular diseases including cardio-surgery
CEP - secondary branch
EB - Genetics and molecular biology
CEP - another secondary branch
—
10603 - Genetics and heredity (medical genetics to be 3)
10604 - Reproductive biology (medical aspects to be 3)
10605 - Developmental biology
10608 - Biochemistry and molecular biology
10609 - Biochemical research methods
30101 - Human genetics
30201 - Cardiac and Cardiovascular systems
Completed project evaluation
Provider evaluation
U - Uspěl podle zadání (s publikovanými či patentovanými výsledky atd.)
Project results evaluation
Prevalence of the ion channel gene promoters variants was evaluated in patiens with arrhytmias in comparison to controls
Solution timeline
Realization period - beginning
Jan 1, 2009
Realization period - end
Dec 31, 2011
Project status
U - Finished project
Latest support payment
Aug 8, 2011
Data delivery to CEP
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data delivery code
CEP12-MZ0-NS-U/09:3
Data delivery date
Oct 31, 2013
Finance
Total approved costs
10,581 thou. CZK
Public financial support
10,581 thou. CZK
Other public sources
0 thou. CZK
Non public and foreign sources
0 thou. CZK
Recognised costs
10 581 CZK thou.
Public support
10 581 CZK thou.
0%
Provider
Ministry of Health
CEP
FA - Cardiovascular diseases including cardio-surgery
Solution period
01. 01. 2009 - 31. 12. 2011