The Complex Genetic Basis of Congenital Heart Defects
| Autor: | Ehiole Akhirome, Patrick Y. Jay, Nephi A Walton, Julie M. Nogee |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
Heart Defects
Congenital 0301 basic medicine Genetics business.industry Maternal effect Genetic Variation Heart Heart defect Embryo General Medicine GENETIC ABNORMALITY Article Pathogenesis 03 medical and health sciences 030104 developmental biology Mutation Genetic model Humans Medicine Cardiology and Cardiovascular Medicine business Gene |
| Zdroj: | Circulation Journal. 81:629-634 |
| ISSN: | 1347-4820 1346-9843 |
| DOI: | 10.1253/circj.cj-16-1343 |
| Popis: | Twenty years ago, chromosomal abnormalities were the only identifiable genetic causes of a small fraction of congenital heart defects (CHD). Today, a de novo or inherited genetic abnormality can be identified as pathogenic in one-third of cases. We refer to them here as monogenic causes, insofar as the genetic abnormality has a readily detectable, large effect. What explains the other two-thirds? This review considers a complex genetic basis. That is, a combination of genetic mutations or variants that individually may have little or no detectable effect contribute to the pathogenesis of a heart defect. Genes in the embryo that act directly in cardiac developmental pathways have received the most attention, but genes in the mother that establish the gestational milieu via pathways related to metabolism and aging also have an effect. A growing body of evidence highlights the pathogenic significance of genetic interactions in the embryo and maternal effects that have a genetic basis. The investigation of CHD as guided by a complex genetic model could help estimate risk more precisely and logically lead to a means of prevention. |
| Databáze: | OpenAIRE |
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