Endophenotypes: multiplicity of variants and possible interpretations



The concept of endophenotype comprises hereditary characteristics of human body and psyche, correlating with behavioral (psychological) displays of normal functioning and mental disorders. Endophenotypes are regarded as mediators between gene action and its display at the level of behavior. The review gives an idea of the role endophenotypes play in study of genetic basis of mental diseases and normal psychic activity as well as the criteria according to which they can be detected. The article describes the definite signs of the levels, which can be regarded as poten tial endophenotypes for a number of psychic diseases and for a normal intellect. It also provides the estimation of interpretation capacities of this notion.

General Information

Keywords: genotype; phenotype; endophenotype; psychic disorder; psychiatric genetics; schizophrenia; intellect; structure of individuality

Journal rubric: General Psychology

Article type: review article

For citation: Mariutina T.M. Endophenotypes: multiplicity of variants and possible interpretations [Elektronnyi resurs]. Sovremennaia zarubezhnaia psikhologiia = Journal of Modern Foreign Psychology, 2012. Vol. 1, no. 3, pp. 50–61. (In Russ., аbstr. in Engl.)


  1. Grigorenko E.L. Biologicheskaya priroda dizleksiyi: Kratkiy obzor literatury i primery issledovaniy // Psichologiya. Zhurnal Vysshey shkoly ekonomiki. 2010. T. 7, № 4. S. 20—44.
  2. Maryutina T.M. Promezhutochniye fenotipy intellekta v kontekste geneticheskoy psichofiziologiyi // Psichologiya. Zhurnal Vysshey shkoly ekonomiki. 2007. T. 4, № 2. S. 22—47.
  3. Allen A.J. Endophenotypes in schizophrenia: A selective review / M.E. Griss, B.S. Folley et al // Schizophrenia Research. 2009. Vol. 109, № 1—3. P. 24—37.
  4. Balanza-Martinez V. Neurocognitive endophenotypes (Endophenocognitypes) from studies of relatives of bipolar disorder subjects: A systematic review / Balanza-Martinez V., Rubio C., Selva-Vera G. et al. // Neuroscience and Biobehavioral Reviews. 2008. Vol. 32, № 8. P. 1426—1438.
  5. Bender S., Weisbrod M., Resch F. Which perspectives can endophenotypes and biological markers offer in the early recognition of schizophrenia? // Journal of Neural Transmission. 2007. Vol. 114, № 9. P. 1199—1215.
  6. De Geus E.J.C. Genetics of Brain Function and Cognition / E.J.C. De Geus, M.J. Wright, N.G. Martin et al // Behavior Genetics. 2001. Vol. 31, № 6. P. 489—495.
  7. Dick D.M., Jones K., Saccone N. et al. Endophenotypes Successfully Lead to Gene Identification: Results from the Collaborative Study on the Genetics of Alcoholism / D.M. Dick, K. Jones, N. Saccone et al // Behavior Genetics. 2006. Vol. 36, №.1. P. 112—126.
  8. Egan M.F., Goldberg T.E, Gscheidle T. et al. Relative risk for cognitive impairments in siblings of patients with schizophrenia / M.F. Egan, T.E. Goldberg, T. Gscheidle et al. //Biological Psychiatry. 2001. Vol. 50, № 2. P. 98—107.
  9. Flint J., Munafo M.R. The endophenotype concept in psychiatric genetics // Psychological Medicine. 2007. Vol. 37, № 2. P 163—180.
  10. Frantom L.V., Allen D.N., Cross C.L. Neurocognitive endophenotypes for bipolar disorder // Bipolar Disorders. 2008. Vol. 10, № 3. P. 387—399.
  11. Gilmore C.S., Malone S.M., Iacono W.G. Brain Electrophysiological Endophenotypes for Externalizing Psychopathology: A Multivariate Approach // Behavior Genetics. 2010. Vol. 40, № 2. P. 186—200.
  12. Gogtay N., Thompson P. M. Mapping gray matter development: Implications for typical development and vulnerability to psychopathology // Brain and Cognition. 2010. Vol.72, № 1. P. 6—15.
  13. Gottesman I.I., Gould F.R.C. The endophenotype concept in psychiatry: etymology and strategic intentions. // American Journal of Psychiatry. 2003.Vol.160, № 4. P. 636—645.
  14. Iarocci G., Yager J., Elfers T. What gene-environment interactions can tell us about social competence in typical and atypical populations // Brain and Cognition. 2007. Vol. 65, Iss. 1, P. 112—127.
  15. Ivleva E.I. Genetics and intermediate phenotypes of the schizophrenia-bipolar disorder boundary / E.I. Ivleva, D.W. Morris, A.F. Moates et al. // Neuroscience and Biobehavioral Reviews. 2010. Vol. 34, № 6. P. 897—921.
  16. Kendler K.S., Neale M.C. Endophenotype: a conceptual analysis // Molecular Psychiatry. 2010. Vol. 15. P. 789—797.
  17. Keґri S., Janka Z. Critical evaluation of cognitive dysfunctions as endophenotypes of schizophrenia // Acta Psychiatrica Scandinavica. 2004. Vol. 110, № 2, P. 83—91.
  18. Keshavan M.S., Prasad K.M., Pearlson G. Are brain structural abnormalities useful as endophenotypes in schizophrenia? // International Review of Psychiatry. 2007. Vol. 19, Iss. 4. P. 399—408.
  19. Robbins T.W. Neurocognitive endophenotypes of impulsivity and compulsivity: towards dimensional psychiatry / T.W. Robbins, C.M. Gillan, D.G. Smith et al. // Trends in Cognitive Sciences. Special Issue: Cognition in Neuropsychiatric. 2012. Vol. 16, № 1. P. 81—91.
  20. Rommelse N.N.J. A review on cognitive and brain endophenotypes that may be common in autism spectrum disorder and attention-deficit/hyperactivity disorder and facilitate the search for pleiotropic genes / N.N.J. Rommelse, H.M. Geurtsc, B. Franke et al. // Neuroscience and Biobehavioral Reviews. 2011. Vol. 35, № 6. Р. 1363—1396.
  21. Ruocco А.C., Amirthavasagam S., Zakzanis K.K. Amygdala and hippocampal volume reductions as candidate endophenotypes for borderline personality disorder: A meta-analysis of magnetic resonance imaging studies // Psychiatry Research: Neuroimaging, 2012. Vol. 201, №3. P. 245—252. doi:10.1016/j.pscychresns.2012.02.012.
  22. Smith M.J. Temperament and character as schizophrenia-related endophenotypes in non-psychotic siblings / M.J. Smith, C.R. Cloninger, M.R. Harms et al // Schizophrenia Research. 2008. Vol. 104, № 1—3, P. 198—205.
  23. Steiger H., Bruce K.R. Phenotypes, Endophenotypes, and Genotypes in Bulimia Spectrum Eating Disorders // The Canadian Journal of Psychiatry. 2007. Vol 52, № 4. P. 220—227.
  24. Toulopoulou T. Substantial genetic overlap between neurocognition and schizophrenia / T. Toulopoulou, M. Picchioni, F. Rijsdijk et al. // Archives of General Psychiatry. 2007. Vol. 4, № 12. Р. 1348—1355.
  25. Van Leeuwen M. Endophenotypes for intelligence in children and adolescents / M. Van Leeuwen, S.M. van den Berg, R.A. Hoekstra et. al. // Intelligence. 2007. Vol. 35, № 4. P. 369—370.
  26. Walters J.T.R., Owen M.J. Endophenotypes in psychiatric genetics // Molecular Psychiatry. 2007. Vol. 12. P. 886—890.

Information About the Authors

Tatyana M. Mariutina, Doctor of Psychology, professor, head Department of Differential Psychology and Psychophysiology, Institute of Psychology named after. L.S. Vygotsky, Russian State University for the Humanities, leading researcher at PI RAO, expert at the Higher Attestation Commission, member of the editorial board of the scientific journal "Psychological Science and Education", member of the editorial board of the scientific journal "Experimental Psychology", Moscow, Russia, e-mail: T.M.Mariutina@rambler.ru



Total: 2622
Previous month: 37
Current month: 21


Total: 1695
Previous month: 3
Current month: 9