Endophenotypes
- DOI:
- 10.1093/med/9780190221973.003.0007
Endophenotypes are traits that, while genetically related to an illness, are not used for diagnoses (e.g., a symptom). It is unlikely that specific genes directly code for any of our current psychiatric diagnoses. Rather, genes influence neurobiological processes that either increase or decrease risk for mental illness. One use of an endophenotype is to help characterize a genetic locus or gene previously identified as conferring risk for a particular illness. In this context, endophenotypes help to bridge the gap between a behavioral syndrome and molecular genetic variation. Alternately, endophenotypes can be used for novel locus or gene discovery, particularly when used in multivariate analyses. In this chapter, we define endophenotypes and describe different ways they have been applied to aid our understanding of the genetic architecture of psychiatric disorders.
Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.
Please subscribe or login to access full text content.
If you have purchased a print title that contains an access token, please see the token for information about how to register your code.
For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.
