Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information
    Psychol Med. 2007 Feb;37(2):163-80. Epub 2006 Sep 18.

    The endophenotype concept in psychiatric genetics.

    Source

    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

    Abstract

    The idea that some phenotypes bear a closer relationship to the biological processes that give rise to psychiatric illness than diagnostic categories has attracted considerable interest. Much effort has been devoted to finding such endophenotypes, partly because it is believed that the genetic basis of endophenotypes will be easier to analyse than that of psychiatric disease. This belief depends in part on the assumption that the effect sizes of genetic loci contributing to endophenotypes are larger than those contributing to disease susceptibility, hence increasing the chance that genetic linkage and association tests will detect them. We examine this assumption by applying meta-analytical techniques to genetic association studies of endophenotypes. We find that the genetic effect sizes of the loci examined to date are no larger than those reported for other phenotypes. A review of the genetic architecture of traits in model organisms also provides no support for the view that the effect sizes of loci contributing to phenotypes closer to the biological basis of disease is any larger than those contributing to disease itself. While endophenotype measures may afford greater reliability, it should not be assumed that they will also demonstrate simpler genetic architecture.

    PMID:
    16978446
    [PubMed - indexed for MEDLINE]
    PMCID:
    PMC2829981
    Free PMC Article

    Images from this publication.See all images (4)Free text

    Fig. 1
    Fig. 2
    Fig. 3
    Fig. 4

      Supplemental Content

      Icon for Cambridge University Press Icon for PubMed Central

      Save items

      Recent activity

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...
      Write to the Help Desk