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Beyond the One Gene-One Disease Paradigm: Complex Genetics and Pleiotropy in Inheritable Cardiac Disorders

Marina Cerrone1,2, Carol Ann Remme2, Rafik Tadros3

  • 1Leon H. Charney Division of Cardiology (M.C., M.D.), NYU School of Medicine, New York.

Circulation
|August 13, 2019
PubMed

Insights

Most inherited heart conditions result from multiple gene variants, not single genes. A single gene can also influence various unrelated traits, highlighting complex genetic interactions in heart disease.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Genetic Epidemiology

Background:

  • Inheritable cardiac disorders increase sudden death risk in young individuals.
  • Early studies identified single gene variants (Mendelian inheritance) for conditions like hypertrophic cardiomyopathy and long-QT syndrome.
  • Recent research reveals most inherited heart conditions have complex genetic bases (oligogenic/polygenic inheritance).

Purpose of the Study:

  • To review the dual phenomena of multiple genes converging to cause a single phenotype and single genes causing multiple, unrelated phenotypes.
  • To explore the complex genetic architecture of inheritable cardiac disorders.
  • To discuss pleiotropic gene effects in cardiovascular diseases.

Main Methods:

  • Review of genotype-phenotype studies and genetic research.
  • Analysis of data from Mendelian and complex inheritable cardiac disorders.
  • Detailed examination of specific genes like SCN5A and PKP2 and their associated conditions.

Main Results:

  • Most inheritable cardiac disorders exhibit oligogenic or polygenic inheritance patterns.
  • Single genes can influence multiple, seemingly unrelated phenotypes (pleiotropy).
  • Studies on long-QT syndrome, Brugada syndrome, and arrhythmogenic cardiomyopathy illustrate these complex genetic principles.

Conclusions:

  • Inheritable cardiac disorders often involve intricate genetic interactions, with multiple genes contributing to a single condition.
  • Pleiotropy, where one gene affects diverse phenotypes, is a significant factor in cardiovascular genetics.
  • Understanding these complex genetic relationships is crucial for diagnosing and managing inheritable heart diseases.

Keywords:
Brugada syndromegenetic pleiotropygeneticslong QT syndromemutationplakophilinssodium channels

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