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Influence of genetic modifiers on sudden cardiac death cases.

Jenewein, Tina ; Neumann, Thomas ; Erkapic, Damir ; Kuniss, Malte ; Verhoff, Marcel A. ; Thiel, Gerhard ; Kauferstein, Silke (2018)
Influence of genetic modifiers on sudden cardiac death cases.
In: International journal of legal medicine, 132 (2)
Article, Bibliographie

Abstract

Sequence variants in the ion channel genes KCNH2 and SCN5A may cause the cardiac disorder long QT syndrome (LQTS). This disorder is associated with incomplete penetrance and variable expression in KCNH2- or SCN5A-mutation carriers. Common genetic variants, if associated with a mutation, may affect the severity of this cardiac disorder. This study identified rare mutations in the cardiac ion channel genes KCNH2 and SCN5A in a SCD case, as well as in a LQTS-affected family with a history of SCD. Moreover, common variants were found to occur together within the same genes. These findings support the concept that common single-nucleotide polymorphisms (SNPs) in genes encoding cardiac ion channels can directly modulate the functional effect of mutations and therefore enhance or weaken the risk of cardiac events.

Item Type: Article
Erschienen: 2018
Creators: Jenewein, Tina ; Neumann, Thomas ; Erkapic, Damir ; Kuniss, Malte ; Verhoff, Marcel A. ; Thiel, Gerhard ; Kauferstein, Silke
Type of entry: Bibliographie
Title: Influence of genetic modifiers on sudden cardiac death cases.
Language: English
Date: March 2018
Journal or Publication Title: International journal of legal medicine
Volume of the journal: 132
Issue Number: 2
Abstract:

Sequence variants in the ion channel genes KCNH2 and SCN5A may cause the cardiac disorder long QT syndrome (LQTS). This disorder is associated with incomplete penetrance and variable expression in KCNH2- or SCN5A-mutation carriers. Common genetic variants, if associated with a mutation, may affect the severity of this cardiac disorder. This study identified rare mutations in the cardiac ion channel genes KCNH2 and SCN5A in a SCD case, as well as in a LQTS-affected family with a history of SCD. Moreover, common variants were found to occur together within the same genes. These findings support the concept that common single-nucleotide polymorphisms (SNPs) in genes encoding cardiac ion channels can directly modulate the functional effect of mutations and therefore enhance or weaken the risk of cardiac events.

Identification Number: pmid:29214556
Divisions: 10 Department of Biology
10 Department of Biology > Plant Membrane Biophyscis (20.12.23 renamed in Biology of Algae and Protozoa)
Date Deposited: 11 Dec 2017 13:16
Last Modified: 26 Feb 2018 10:31
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