Genetic contributions to the expression of acquired causes of cardiac hypertrophy in non-ischemic sudden cardiac death victims
Abstract The contribution of genetic variants to non-ischemic sudden cardiac death (SCD) due to acquired myocardial diseases is unclear. We studied whether SCD victims with hypertension/obesity related hypertrophic myocardial disease harbor potentially disease associated gene variants. The Fingestur...
Guardado en:
Autores principales: | , , , , , , , , , , , , , |
---|---|
Formato: | article |
Lenguaje: | EN |
Publicado: |
Nature Portfolio
2021
|
Materias: | |
Acceso en línea: | https://doaj.org/article/114df0d571394915b5cd3f2ed4d33d2b |
Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
id |
oai:doaj.org-article:114df0d571394915b5cd3f2ed4d33d2b |
---|---|
record_format |
dspace |
spelling |
oai:doaj.org-article:114df0d571394915b5cd3f2ed4d33d2b2021-12-02T15:00:25ZGenetic contributions to the expression of acquired causes of cardiac hypertrophy in non-ischemic sudden cardiac death victims10.1038/s41598-021-90693-72045-2322https://doaj.org/article/114df0d571394915b5cd3f2ed4d33d2b2021-05-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-90693-7https://doaj.org/toc/2045-2322Abstract The contribution of genetic variants to non-ischemic sudden cardiac death (SCD) due to acquired myocardial diseases is unclear. We studied whether SCD victims with hypertension/obesity related hypertrophic myocardial disease harbor potentially disease associated gene variants. The Fingesture study has collected data from 5869 autopsy-verified SCD victims in Northern Finland. Among SCD victims, 740 (13%) had hypertension and/or obesity as the most likely explanation for myocardial disease with hypertrophy and fibrosis. We performed next generation sequencing using a panel of 174 cardiac genes for 151 such victims with the best quality of DNA. We used 48 patients with hypertension and hypertrophic heart as controls. Likely pathogenic variants were identified in 15 SCD victims (10%) and variants of uncertain significance (VUS) were observed in additional 43 SCD victims (28%). In controls, likely pathogenic variants were present in two subjects (4%; p = 0.21) and VUSs in 12 subjects (25%; p = 0.64). Among SCD victims, presence of potentially disease-related variants was associated with lower mean BMI and heart weight. Potentially disease related gene variants are common in non-ischemic SCD but further studies are required to determine specific contribution of rare genetic variants to the extent of acquired myocardial diseases leading to SCD.Lauri HolmströmKatri PylkäsAnna TervasmäkiJuha VähätaloKatja PorvariLasse PakanenKari S. KaikkonenJuha S. PerkiömäkiAntti M. KiviniemiRisto KerkeläOlavi UkkolaRobert J. MyerburgHeikki V. HuikuriJuhani JunttilaNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-8 (2021) |
institution |
DOAJ |
collection |
DOAJ |
language |
EN |
topic |
Medicine R Science Q |
spellingShingle |
Medicine R Science Q Lauri Holmström Katri Pylkäs Anna Tervasmäki Juha Vähätalo Katja Porvari Lasse Pakanen Kari S. Kaikkonen Juha S. Perkiömäki Antti M. Kiviniemi Risto Kerkelä Olavi Ukkola Robert J. Myerburg Heikki V. Huikuri Juhani Junttila Genetic contributions to the expression of acquired causes of cardiac hypertrophy in non-ischemic sudden cardiac death victims |
description |
Abstract The contribution of genetic variants to non-ischemic sudden cardiac death (SCD) due to acquired myocardial diseases is unclear. We studied whether SCD victims with hypertension/obesity related hypertrophic myocardial disease harbor potentially disease associated gene variants. The Fingesture study has collected data from 5869 autopsy-verified SCD victims in Northern Finland. Among SCD victims, 740 (13%) had hypertension and/or obesity as the most likely explanation for myocardial disease with hypertrophy and fibrosis. We performed next generation sequencing using a panel of 174 cardiac genes for 151 such victims with the best quality of DNA. We used 48 patients with hypertension and hypertrophic heart as controls. Likely pathogenic variants were identified in 15 SCD victims (10%) and variants of uncertain significance (VUS) were observed in additional 43 SCD victims (28%). In controls, likely pathogenic variants were present in two subjects (4%; p = 0.21) and VUSs in 12 subjects (25%; p = 0.64). Among SCD victims, presence of potentially disease-related variants was associated with lower mean BMI and heart weight. Potentially disease related gene variants are common in non-ischemic SCD but further studies are required to determine specific contribution of rare genetic variants to the extent of acquired myocardial diseases leading to SCD. |
format |
article |
author |
Lauri Holmström Katri Pylkäs Anna Tervasmäki Juha Vähätalo Katja Porvari Lasse Pakanen Kari S. Kaikkonen Juha S. Perkiömäki Antti M. Kiviniemi Risto Kerkelä Olavi Ukkola Robert J. Myerburg Heikki V. Huikuri Juhani Junttila |
author_facet |
Lauri Holmström Katri Pylkäs Anna Tervasmäki Juha Vähätalo Katja Porvari Lasse Pakanen Kari S. Kaikkonen Juha S. Perkiömäki Antti M. Kiviniemi Risto Kerkelä Olavi Ukkola Robert J. Myerburg Heikki V. Huikuri Juhani Junttila |
author_sort |
Lauri Holmström |
title |
Genetic contributions to the expression of acquired causes of cardiac hypertrophy in non-ischemic sudden cardiac death victims |
title_short |
Genetic contributions to the expression of acquired causes of cardiac hypertrophy in non-ischemic sudden cardiac death victims |
title_full |
Genetic contributions to the expression of acquired causes of cardiac hypertrophy in non-ischemic sudden cardiac death victims |
title_fullStr |
Genetic contributions to the expression of acquired causes of cardiac hypertrophy in non-ischemic sudden cardiac death victims |
title_full_unstemmed |
Genetic contributions to the expression of acquired causes of cardiac hypertrophy in non-ischemic sudden cardiac death victims |
title_sort |
genetic contributions to the expression of acquired causes of cardiac hypertrophy in non-ischemic sudden cardiac death victims |
publisher |
Nature Portfolio |
publishDate |
2021 |
url |
https://doaj.org/article/114df0d571394915b5cd3f2ed4d33d2b |
work_keys_str_mv |
AT lauriholmstrom geneticcontributionstotheexpressionofacquiredcausesofcardiachypertrophyinnonischemicsuddencardiacdeathvictims AT katripylkas geneticcontributionstotheexpressionofacquiredcausesofcardiachypertrophyinnonischemicsuddencardiacdeathvictims AT annatervasmaki geneticcontributionstotheexpressionofacquiredcausesofcardiachypertrophyinnonischemicsuddencardiacdeathvictims AT juhavahatalo geneticcontributionstotheexpressionofacquiredcausesofcardiachypertrophyinnonischemicsuddencardiacdeathvictims AT katjaporvari geneticcontributionstotheexpressionofacquiredcausesofcardiachypertrophyinnonischemicsuddencardiacdeathvictims AT lassepakanen geneticcontributionstotheexpressionofacquiredcausesofcardiachypertrophyinnonischemicsuddencardiacdeathvictims AT kariskaikkonen geneticcontributionstotheexpressionofacquiredcausesofcardiachypertrophyinnonischemicsuddencardiacdeathvictims AT juhasperkiomaki geneticcontributionstotheexpressionofacquiredcausesofcardiachypertrophyinnonischemicsuddencardiacdeathvictims AT anttimkiviniemi geneticcontributionstotheexpressionofacquiredcausesofcardiachypertrophyinnonischemicsuddencardiacdeathvictims AT ristokerkela geneticcontributionstotheexpressionofacquiredcausesofcardiachypertrophyinnonischemicsuddencardiacdeathvictims AT olaviukkola geneticcontributionstotheexpressionofacquiredcausesofcardiachypertrophyinnonischemicsuddencardiacdeathvictims AT robertjmyerburg geneticcontributionstotheexpressionofacquiredcausesofcardiachypertrophyinnonischemicsuddencardiacdeathvictims AT heikkivhuikuri geneticcontributionstotheexpressionofacquiredcausesofcardiachypertrophyinnonischemicsuddencardiacdeathvictims AT juhanijunttila geneticcontributionstotheexpressionofacquiredcausesofcardiachypertrophyinnonischemicsuddencardiacdeathvictims |
_version_ |
1718389122270232576 |