Title |
Influence of genetic modifiers on sudden cardiac death cases
|
---|---|
Published in |
International Journal of Legal Medicine, December 2017
|
DOI | 10.1007/s00414-017-1739-7 |
Pubmed ID | |
Authors |
Tina Jenewein, Thomas Neumann, Damir Erkapic, Malte Kuniss, Marcel A. Verhoff, Gerhard Thiel, Silke Kauferstein |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Italy | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 20 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 6 | 30% |
Other | 2 | 10% |
Student > Bachelor | 2 | 10% |
Student > Doctoral Student | 2 | 10% |
Student > Master | 2 | 10% |
Other | 2 | 10% |
Unknown | 4 | 20% |
Readers by discipline | Count | As % |
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Biochemistry, Genetics and Molecular Biology | 6 | 30% |
Agricultural and Biological Sciences | 5 | 25% |
Pharmacology, Toxicology and Pharmaceutical Science | 2 | 10% |
Environmental Science | 1 | 5% |
Medicine and Dentistry | 1 | 5% |
Other | 2 | 10% |
Unknown | 3 | 15% |