Analysis of the Association between Copy Number Variation and Ventricular Fibrillation in ST-Elevation Acute Myocardial Infarction
Sudden cardiac death due to ventricular fibrillation (VF) during ST-elevation acute myocardial infarction (STEAMI) significantly contributes to cardiovascular-related deaths. Although VF has been linked to genetic factors, variations in copy number variation (CNV), a significant source of genetic va...
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MDPI AG
2024-02-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/25/5/2548 |
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| author | Roberto Lorente-Bermúdez Ricardo Pan-Lizcano Lucía Núñez Domingo López-Vázquez Fernando Rebollal-Leal José Manuel Vázquez-Rodríguez Manuel Hermida-Prieto |
| author_facet | Roberto Lorente-Bermúdez Ricardo Pan-Lizcano Lucía Núñez Domingo López-Vázquez Fernando Rebollal-Leal José Manuel Vázquez-Rodríguez Manuel Hermida-Prieto |
| author_sort | Roberto Lorente-Bermúdez |
| collection | DOAJ |
| description | Sudden cardiac death due to ventricular fibrillation (VF) during ST-elevation acute myocardial infarction (STEAMI) significantly contributes to cardiovascular-related deaths. Although VF has been linked to genetic factors, variations in copy number variation (CNV), a significant source of genetic variation, have remained largely unexplored in this context. To address this knowledge gap, this study performed whole exome sequencing analysis on a cohort of 39 patients with STEAMI who experienced VF, aiming to elucidate the role of CNVs in this pathology. The analysis revealed CNVs in the form of duplications in the <i>PARP2</i> and <i>TTC5</i> genes as well as CNVs in the form of deletions in the <i>MUC15</i> and <i>PPP6R1</i> genes, which could potentially serve as risk indicators for VF during STEAMI. The analysis also underscores notable CNVs with an average gene copy number equal to or greater than four in <i>DEFB134</i>, <i>FCGR2C</i>, <i>GREM1</i>, <i>PARM1</i>, <i>SCG5</i>, and <i>UNC79</i> genes. These findings provide further insight into the role of CNVs in VF in the context of STEAMI. |
| first_indexed | 2024-04-25T00:29:08Z |
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| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-04-25T00:29:08Z |
| publishDate | 2024-02-01 |
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| series | International Journal of Molecular Sciences |
| spelling | doaj.art-8c02086d23494457a571da44d282093a2024-03-12T16:45:23ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672024-02-01255254810.3390/ijms25052548Analysis of the Association between Copy Number Variation and Ventricular Fibrillation in ST-Elevation Acute Myocardial InfarctionRoberto Lorente-Bermúdez0Ricardo Pan-Lizcano1Lucía Núñez2Domingo López-Vázquez3Fernando Rebollal-Leal4José Manuel Vázquez-Rodríguez5Manuel Hermida-Prieto6Grupo de Investigación en Cardiología, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC-SERGAS), GRINCAR-Universidade da Coruña (UDC), 15006 A Coruña, SpainGrupo de Investigación en Cardiología, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC-SERGAS), GRINCAR-Universidade da Coruña (UDC), 15006 A Coruña, SpainGrupo de Investigación en Cardiología, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC-SERGAS), GRINCAR-Universidade da Coruña (UDC), 15006 A Coruña, SpainServicio de Cardiología, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC-SERGAS), Universidade da Coruña (UDC), 15006 A Coruña, SpainServicio de Cardiología, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC-SERGAS), Universidade da Coruña (UDC), 15006 A Coruña, SpainServicio de Cardiología, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC-SERGAS), Universidade da Coruña (UDC), 15006 A Coruña, SpainGrupo de Investigación en Cardiología, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC-SERGAS), GRINCAR-Universidade da Coruña (UDC), 15006 A Coruña, SpainSudden cardiac death due to ventricular fibrillation (VF) during ST-elevation acute myocardial infarction (STEAMI) significantly contributes to cardiovascular-related deaths. Although VF has been linked to genetic factors, variations in copy number variation (CNV), a significant source of genetic variation, have remained largely unexplored in this context. To address this knowledge gap, this study performed whole exome sequencing analysis on a cohort of 39 patients with STEAMI who experienced VF, aiming to elucidate the role of CNVs in this pathology. The analysis revealed CNVs in the form of duplications in the <i>PARP2</i> and <i>TTC5</i> genes as well as CNVs in the form of deletions in the <i>MUC15</i> and <i>PPP6R1</i> genes, which could potentially serve as risk indicators for VF during STEAMI. The analysis also underscores notable CNVs with an average gene copy number equal to or greater than four in <i>DEFB134</i>, <i>FCGR2C</i>, <i>GREM1</i>, <i>PARM1</i>, <i>SCG5</i>, and <i>UNC79</i> genes. These findings provide further insight into the role of CNVs in VF in the context of STEAMI.https://www.mdpi.com/1422-0067/25/5/2548copy number variantsventricular fibrillationacute myocardial infarctionwhole exome sequencing |
| spellingShingle | Roberto Lorente-Bermúdez Ricardo Pan-Lizcano Lucía Núñez Domingo López-Vázquez Fernando Rebollal-Leal José Manuel Vázquez-Rodríguez Manuel Hermida-Prieto Analysis of the Association between Copy Number Variation and Ventricular Fibrillation in ST-Elevation Acute Myocardial Infarction International Journal of Molecular Sciences copy number variants ventricular fibrillation acute myocardial infarction whole exome sequencing |
| title | Analysis of the Association between Copy Number Variation and Ventricular Fibrillation in ST-Elevation Acute Myocardial Infarction |
| title_full | Analysis of the Association between Copy Number Variation and Ventricular Fibrillation in ST-Elevation Acute Myocardial Infarction |
| title_fullStr | Analysis of the Association between Copy Number Variation and Ventricular Fibrillation in ST-Elevation Acute Myocardial Infarction |
| title_full_unstemmed | Analysis of the Association between Copy Number Variation and Ventricular Fibrillation in ST-Elevation Acute Myocardial Infarction |
| title_short | Analysis of the Association between Copy Number Variation and Ventricular Fibrillation in ST-Elevation Acute Myocardial Infarction |
| title_sort | analysis of the association between copy number variation and ventricular fibrillation in st elevation acute myocardial infarction |
| topic | copy number variants ventricular fibrillation acute myocardial infarction whole exome sequencing |
| url | https://www.mdpi.com/1422-0067/25/5/2548 |
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