Genotypes and Phenotypes of Anorexia Nervosa

  • Janet Treasure
  • Natalie Kanakam
  • Christine-Johanna Macare


At present Anorexia Nervosa (AN) is diagnosed on the basis of phenotypes which are specified in DSM IV. It is argued that the nosology of the current diagnostic criteria lacks an empirical basis. Furthermore diagnosis based on phenotypes can be problematic since the symptoms needed for a diagnosis of AN may be attenuated or absent. Also, symptoms may change over the course of the illness. Intermediate phenotypes such as biomarkers (a biological marker) and endophenotypes may provide additional means to describe and identify these disorders. A variety of biomarkers or endophenotypes have been identified including: abnormalities in brain serotonin and dopamine networks; neuropsychological deficits, which include difficulties in executive function such as set-shifting and weak central coherence; and changes in the structure of the brain. Genes that make an individual susceptible to AN have also been investigated using linkage and association studies. Several loci have been identified which relate to serotoninergic, dopaminergic, opioidergic, and BDNF systems. At present many of these studies have been hampered by methodological limitations. Nevertheless, treatments tailored towards these traits are already being tested and show promise. It is hoped that continued investigation to identify potential biomarkers of AN may facilitate the early diagnosis and perhaps be of value in terms of prevention.


Autistic Spectrum Disorder Autistic Spectrum Disorder Anorexia Nervosa Eating Disorder Brain Derive Neurotrophic Factor 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.





Anterior cingulate cortex


Anorexia nervosa


Anorexia nervosa restricting subtype


Anorexia nervosa binge-purge subtype


Autistic spectrum disorders


Diagnostic and Statistical Manual of Mental Disorders, 4th edition


Brain-derived neurotrophic factor


Body mass index


Bulimia nervosa




Cerebrospinal fluid

CT studies

Computed tomography studies


Constitutionally thin




Eating disorders


Eating disorder not otherwise specified


Functional magnetic resonance imaging


Serotonin 1D receptor.


International Statistical Classification of Diseases and Related Health Problems 10th Revision


National Institute for Clinical Excellence


Object Assembly subtest


Obsessive compulsive disorder


Obsessive compulsive personality disorders


Quantitative trait linkage




Single nucleoid polymorphisms


Wechsler Adult Intelligence Scale


Weak Central Coherence


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Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Janet Treasure
    • 1
    • 2
  • Natalie Kanakam
  • Christine-Johanna Macare
  1. 1.Institute of PsychiatryKing’s College LondonLondonUK
  2. 2.Department of Academic PsychiatryEating Disorder Research Unit, Guy’s HospitalLondonUnited Kingdom

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