Mutation Analysis Ion Channel Genes Ventricular Fibrillation Survivors with Coronary Artery Disease

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F11%3A%230001316" target="_blank" >RIV/65269705:_____/11:#0001316 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216224:14110/11:00080233

Výsledek na webu

<a href="http://dx.doi.org/10.1111/j.1540-8159.2011.03045.x" target="_blank" >http://dx.doi.org/10.1111/j.1540-8159.2011.03045.x</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1111/j.1540-8159.2011.03045.x" target="_blank" >10.1111/j.1540-8159.2011.03045.x</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Mutation Analysis Ion Channel Genes Ventricular Fibrillation Survivors with Coronary Artery Disease

Popis výsledku v původním jazyce

Background: Observations from population-based studies demonstrated a strong genetic component of sudden cardiac death. The aim of this study was to test the hypothesis that ion channel genes mutations are more common in ventricular fibrillation (VF) survivors with coronary artery disease (CAD) compared to controls. Methods: The entire coding sequence of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 genes was analyzed in 45 (five females) CAD individuals?survivors of documented VF and in 90 matched healthy controls. In another control group of 141 matched patients with CAD without malignant arrhythmias, the exons containing rare coding variants found in the VF survivors were sequenced. Results: The carrier frequency of all the rare sequence variants was significantly higher in the VF survivors (8/45, 17.8%) than in CAD controls (3/141, 2.2%, P = 0.001). In VF survivors, four coding variants in eight individuals were found. Three in KCNH2 gene: R148W and GAG186del are novel; P347S was previousl

Název v anglickém jazyce

Mutation Analysis Ion Channel Genes Ventricular Fibrillation Survivors with Coronary Artery Disease

Popis výsledku anglicky

Background: Observations from population-based studies demonstrated a strong genetic component of sudden cardiac death. The aim of this study was to test the hypothesis that ion channel genes mutations are more common in ventricular fibrillation (VF) survivors with coronary artery disease (CAD) compared to controls. Methods: The entire coding sequence of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 genes was analyzed in 45 (five females) CAD individuals?survivors of documented VF and in 90 matched healthy controls. In another control group of 141 matched patients with CAD without malignant arrhythmias, the exons containing rare coding variants found in the VF survivors were sequenced. Results: The carrier frequency of all the rare sequence variants was significantly higher in the VF survivors (8/45, 17.8%) than in CAD controls (3/141, 2.2%, P = 0.001). In VF survivors, four coding variants in eight individuals were found. Three in KCNH2 gene: R148W and GAG186del are novel; P347S was previousl

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FA - Kardiovaskulární nemoci včetně kardiochirurgie

OECD FORD obor

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Projekt

<a href="/cs/project/NR9340" target="_blank" >NR9340: Výskyt polymorfizmů genů pro iontové kanály myokardu ve vztahu k náhlé srdeční smrti u pacientů se strukturálním onemocněním srdce</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2011

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Pacing and Clinical Electrophysiology

ISSN

0147-8389

e-ISSN

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Svazek periodika

34

Číslo periodika v rámci svazku

6

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

8

Strana od-do

742-749

Kód UT WoS článku

000291395000018

EID výsledku v databázi Scopus

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