Unraveling the genomic basis of congenital heart disease
The genetic, epigenetic, and environmental etiologic basis of congenital heart disease (CHD) for most heart anomalies remains unexplained. In this issue of the JCI, Lahm et al. performed the largest genome-wide association study (GWAS) to date of European individuals with CHD and clinical subtypes. The comprehensive meta-analysis included over 4000 patients and 8000 controls and uncovered common genetic variants that associated with cardiac anomalies. Lahm and colleagues performed single-cell analysis of induced pluripotent stem cells and heart cells, revealing a role for MACROD2, GOSR2, WNT3, and MSX1 in the developing heart. This study advances our understanding of the genetic basis of common forms of CHD.
| Errataetall: |
CommentOn: J Clin Invest. 2021 Jan 19;131(2):. - PMID 33201861 |
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| Medienart: |
E-Artikel |
| Erscheinungsjahr: |
2021 |
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| Erschienen: |
2021 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:131 |
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| Enthalten in: |
The Journal of clinical investigation - 131(2021), 2 vom: 19. Jan. |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Darbar, Dawood [VerfasserIn] |
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Comment |
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Date Completed 27.08.2021 Date Revised 14.02.2024 published: Print CommentOn: J Clin Invest. 2021 Jan 19;131(2):. - PMID 33201861 Citation Status MEDLINE |
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| doi: |
10.1172/JCI145377 |
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| PPN (Katalog-ID): |
NLM320260410 |
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| 520 | |a The genetic, epigenetic, and environmental etiologic basis of congenital heart disease (CHD) for most heart anomalies remains unexplained. In this issue of the JCI, Lahm et al. performed the largest genome-wide association study (GWAS) to date of European individuals with CHD and clinical subtypes. The comprehensive meta-analysis included over 4000 patients and 8000 controls and uncovered common genetic variants that associated with cardiac anomalies. Lahm and colleagues performed single-cell analysis of induced pluripotent stem cells and heart cells, revealing a role for MACROD2, GOSR2, WNT3, and MSX1 in the developing heart. This study advances our understanding of the genetic basis of common forms of CHD | ||
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