Endophenotype

Endophenotype


An endophenotype is a heritable marker for a condition that is invisible to the naked eye and relies on some form of laboratory measurement. As psychiatric conditions are a heterogonous (mixed) group it has proved difficult to correlate them with any specific genetic error. It is hoped that endophenotypes can help. The idea is that you can deconstruct a condition into more manageable parts and then work out the genetics of these separately.

To qualify as an endophenotype a marker must fulfill specific criteria.

  • It is associated with illness in the population
  • It is heritable
  • It is state independent (present whether or not disease is present)
  • Within families, endophenotype and illness co-segregate (the endophenotype is more prevalent among ill relatives of ill probands than healthy ones)
  • The endophenotype found in affected family members is found in non affected family members at a higher rate than in the general population