Skip to main content
SpringerLink
Log in

Genotypes and Phenotypes of Anorexia Nervosa

  • Chapter
  • First Online:
Handbook of Behavior, Food and Nutrition

  • 229 Accesses

Abstract

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.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 949.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 1,199.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 1,199.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Abbreviations

5HT:

5-hydroxytryptamine

ACC::

Anterior cingulate cortex

AN:

Anorexia nervosa

AN-R:

Anorexia nervosa restricting subtype

AN-BP:

Anorexia nervosa binge-purge subtype

ASD:

Autistic spectrum disorders

DSM IV:

Diagnostic and Statistical Manual of Mental Disorders, 4th edition

BDNF:

Brain-derived neurotrophic factor

BMI:

Body mass index

BN:

Bulimia nervosa

COMT:

Catechol-O-methlytransferase

CSF:

Cerebrospinal fluid

CT studies:

Computed tomography studies

CT:

Constitutionally thin

DA:

Dopamine

ED:

Eating disorders

EDNOS:

Eating disorder not otherwise specified

fMRI:

Functional magnetic resonance imaging

HTR1D:

Serotonin 1D receptor.

ICD-10:

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

NICE:

National Institute for Clinical Excellence

OA:

Object Assembly subtest

OCD:

Obsessive compulsive disorder

OCPD:

Obsessive compulsive personality disorders

QTL:

Quantitative trait linkage

PYY:

PeptideYY

SNP:

Single nucleoid polymorphisms

WAIS:

Wechsler Adult Intelligence Scale

WCC:

Weak Central Coherence

References

  • Adolphs R. Trends Cogn Sci. 1999;3:469–79.

    Article  PubMed  Google Scholar 

  • American Psychiatric Association. Diagnostic and statistical manual of mental disorders (4th ed., text rev.). Washington, DC: Author 2000.

    Google Scholar 

  • Anderluh M, Tchanturia K, Rabe-Hesketh S, Al E. Am J Psychiatry. 2003;160:242–7.

    Article  PubMed  Google Scholar 

  • Anderluh M, Tchanturia K, Rabe-Hesketh S, Collier D, Teasure J. Psychol Med. 2009;39:105–14.

    Article  PubMed  CAS  Google Scholar 

  • Bailer U, Frank G, Henry S, Al E. Arch Gen Psychiatry. 2005a;62:1032–41.

    Article  PubMed  CAS  Google Scholar 

  • Bailer UF, Frank GK, Henry SE, Al E. Psychopharmacology (Berlin). 2005b;195:315–24.

    Article  Google Scholar 

  • Bailer UF, Price JC, Meltzer CC, Al E. Neuropsychopharmacology. 2004;29:1143–55.

    Article  PubMed  CAS  Google Scholar 

  • Baron-Cohen S, Hammer J. J Cogn Neurosci. 1997;9:548–54.

    Article  Google Scholar 

  • Bergen AW, Van Den Bree MBM, Yeager M, Welch R, Ganjei JK, Haque K, Bacanu S, Berrettini WH, Grice DE, Goldman D, Bulik CM, Klump K, Fichter M, Halmi K, Kaplan A, Strober M, Treasure J, Woodside B, Kaye WH. Mol Psychiatry. 2003;8:397–406.

    Article  PubMed  CAS  Google Scholar 

  • Bergen AW, Yeager M, Welch RA, Haque K, Ganjei JK, Van Den Bree MB, Mazzanti C, Nardi I, Fichter MM, Halmi KA, Kaplan AS, Strober M, Treasure J, Woodside DB, Bulik CM, Bacanu SA, Devlin B, Berrettini WH, Goldman D, Kaye WH. Neuropsychopharmacology. 2005;30:1703–10.

    Article  PubMed  CAS  Google Scholar 

  • Berkman ND, Lohr KN, Bulik CM. Int J Eat Disord. 2007;40:293–309.

    Article  PubMed  Google Scholar 

  • Birmingham CL, Su J, Hlynsky JA, Goldner EM, Gao M. Int J Eat Disord. 2005;38:143–6.

    Article  PubMed  Google Scholar 

  • Brown KM, Bujac SR, Mann ET, Campbell DA, Stubbins MJ, Blundell JE. Biol Psychiatry. 2007;61:367–73.

    Article  PubMed  CAS  Google Scholar 

  • Bulik CM, Slof-Op’t Landt MC, Van Furth EF, Sullivan PF. Annu Rev Nutr. 2007;27:263–75.

    Article  PubMed  CAS  Google Scholar 

  • Bulik CM, Sullivan PF, Tozzi F, Furberg H, Lichtenstein P, Pedersen NL. Arch Gen Psychiatry. 2006;63:305–12.

    Article  PubMed  Google Scholar 

  • Byford S, Barrett B, Roberts C, Clark A, Edwards V, Smethurst N, Gowers SG. Br J Psychiatry. 2007;191:436–40.

    Article  PubMed  Google Scholar 

  • Carr KD. Physiol Behav. 2002;76:353–64.

    Article  PubMed  CAS  Google Scholar 

  • Castro-Fornieles J, Bargallo N, Lazaro L, EA. J Psychiatr Res. 2009;43:331–40. Epub 2008.

    Article  PubMed  Google Scholar 

  • Cota D, Tschop MH, Horvath TL, Levine AS. Brain Res Rev. 2006;51:85–107.

    Article  PubMed  CAS  Google Scholar 

  • Davies H, Tchanturia K. Eur Eat Disord Rev. 2005;13:311–6.

    Article  Google Scholar 

  • Devlin B, Bacanu SA, Klump KL, Bulik CM, Fichter MM, Halmi KA, Kaplan AS, Strober M, Treasure J, Woodside DB, Berrettini WH, Kaye WH. Hum Mol Genet. 2002;11:689–96.

    Article  PubMed  CAS  Google Scholar 

  • Dolan RJ, Mitchell J, Wakeling A. Psychol Med. 1988;18:349–53.

    Article  PubMed  CAS  Google Scholar 

  • Eddy KT, Dorer DL, Franko DL, Tahilani K, Thompson-Brenner H, Herzog DB. Am J Psychiatry. 2008;165:245–50.

    Article  PubMed  Google Scholar 

  • Epstein LH, Truesdale R, Wojcik A, Paluch RA, Raynor HA. Physiol Behav. 2003;78:221–7.

    Article  PubMed  CAS  Google Scholar 

  • Frank G, Bailer U, Henry S, Al E. Biol Psychiatry. 2005;58:908–12.

    Article  PubMed  CAS  Google Scholar 

  • Frith U. Autism: explaining the enigma, Cambridge: Blackwell Science; 1989.

    Google Scholar 

  • Gabrovsek M, Brecelj-Anderluh M, Bellodi L, Cellini E, Di Bella D, Estivill X, Fernandez-Aranda F, Freeman B, Geller F, Gratacos M, Haigh R, Hebebrand J, Hinney A, Holliday J, Hu X, Karwautz A, Nacmias B, Ribases M, Remschmidt H, Komel R, Sorbi S, Tomori M, Treasure J, Wagner G, Zhao J, Collier DA. Am J Med Genet Part B Neuropsychiatr Genet. 2004;124B:68–72.

    Article  CAS  Google Scholar 

  • Gagel O, Magersucht. vol. 5. Berlin: Springer. 1953.

    Google Scholar 

  • Galusca B, Costes N, Zito NG, Peyron R, Bossu C, Lang F, Le Bars D, Estour B. Biol Psychiatry. 2008;64:1009–13.

    Article  PubMed  CAS  Google Scholar 

  • Germain N, Galusca B, Le Roux CW, Bossu C, Ghatei MA, Lang F, Bloom SR, Estour B. Am J Clin Nutr. 2007;85:967–71.

    PubMed  CAS  Google Scholar 

  • Gillberg C, Rastam M, Gillberg C. Am Acad Child Adolesc Psychiatry. 1994;33:729–39.

    Article  CAS  Google Scholar 

  • Gillberg I, Rastam M, Wentz E, Al E. J Clin Exp Neuropsychol. 2007;29:170–8.

    Article  PubMed  Google Scholar 

  • Gillberg IC, Gillberg C, Rastam M, Johansson M. Compr Psychiatry. 1996;37:23–30.

    Article  PubMed  CAS  Google Scholar 

  • Glass MJ, Grace M, Cleary JP, Billington CJ, Levine AS. Am J Physiol Regul Integr Comp Physiol. 1996;271: 217–21.

    Google Scholar 

  • Gorwood P, Ades J, Bellodi L, Cellini E, Collier DA, Di Bella D, Di Bernardo M, Estivill X, Fernandez-Aranda F, Gratacos M, Hebebrand J, Hinney A, Hu X, Karwautz A, Kipman A, Mouren-Simeoni MC, Nacmias B, Ribases M, Remschmidt H, Ricca V, Rotella CM, Sorbi S, Treasure J. Mol Psychiatry. 2002;7:90–4.

    Article  PubMed  CAS  Google Scholar 

  • Gottesman IL, Gould TD. Am J Psychiatry. 2003;160:636–45.

    Article  PubMed  Google Scholar 

  • Grice DE, Halmi KA, Fichter MM, Strober M, Woodside DB, Treasure JT, Kaplan AS, Magistretti PJ, Goldman D, Bulik CM, Kaye WH, Berrettini WH. Am J Hum Genet. 2002;70:787–92.

    Article  PubMed  CAS  Google Scholar 

  • Hambrook D, Tchanturia K, Schmidt U, Al E. Br J Clin Psychol. 2008;47:335–9.

    Article  PubMed  Google Scholar 

  • Happe F, Briskman J, Frith U. J Child Psychol Psychiatry Allied Disciplines. 2001;42:299–307.

    Article  CAS  Google Scholar 

  • Happe F, Frith U. J Autism Dev Disord. 2006;36:5–25.

    Article  PubMed  Google Scholar 

  • Happe FG, Booth RD. Q J Exp Psychol. 2008;61:50–63.

    Article  Google Scholar 

  • Harbottle EJ, Birmingham CL, Sayani F. Eat Weight Disord. 2008;13:e32–4.

    PubMed  CAS  Google Scholar 

  • Hebebrand J, Casper R, Treasure J, Schweiger U. J Neural Transm. 2004;111:827–40.

    Article  PubMed  CAS  Google Scholar 

  • Hernandez L, Hoebel BG. Life Sci. 1988;42:1705–12.

    Article  PubMed  CAS  Google Scholar 

  • Hjern A, Lindberg L, Lindblad F. Br J Psychiatry. 2006;189:428–32.

    Article  PubMed  Google Scholar 

  • Hoek HW, Van Hoeken D. Int J Eat Disord. 2003;34:383–96.

    Article  PubMed  Google Scholar 

  • Holliday J, Tchanturia K, Landau S, Collier DA, Treasure J. Am J Psychiatry. 2005;162:2269–75.

    Article  PubMed  Google Scholar 

  • Holliday J, Uher R, Landau S, Collier D, Treasure J. J Pers Disord. 2006;20:417–30.

    Article  PubMed  Google Scholar 

  • Hudson JI, Hiripi E, Pope HG, Jr., Kessler RC. Biol Psychiatry. 2007;61:348–58.

    Article  PubMed  Google Scholar 

  • Jones BP, Duncan CC, Brouwers P, Mirsky AF. J Clin Exp Neuropsychol. 1991;13:711–28.

    Article  PubMed  CAS  Google Scholar 

  • Kaye W. Physiol Behav. 2008;94:121–35.

    Article  PubMed  CAS  Google Scholar 

  • Kaye W, Strober M, Jimerson D. The neurobiology of eating disorders. In: Charney, DS, Nestler EJ, editors. The neurobiology of mental illness. New York: Oxford Press; 2004.

    Google Scholar 

  • Kaye WH, Pickar D, Naber D, Ebert MH. Am J Psychiatry. 1982;139:643–5.

    PubMed  CAS  Google Scholar 

  • Krieg JC, Lauer C, Leinsinger G, Al E. Biol Psychiatry. 1989;25:1041–8.

    Article  PubMed  CAS  Google Scholar 

  • Kucharska-Pietura K, Nikolaou V, Masiak M, Al E. Int J Eat Disord. 2004;35:42–7.

    Article  PubMed  Google Scholar 

  • Lilenfeld LR, Kaye WH, Greeno CG, Merikangas KR, Plotnicov K, Pollice C, Rao R, Strober M, Bulik CM, Nagy L. Arch Gen Psychiatry. 1998;55:603–10.

    Article  PubMed  CAS  Google Scholar 

  • Liu P, Jiang Y, Chen WJ, Chang C, Lee T, Sun HS, Chuang L. Twin Res Hum Genet. 2008;11:495–504.

    Article  PubMed  Google Scholar 

  • Lopez C, Tchanturia K, Stahl D, Al E. Psychol Med; 2008a;37:1075–84.

    Google Scholar 

  • Lopez C, Tchanturia K, Stahl D, Al E. Int J Eat Disord. 2008b;41:143–52.

    Article  PubMed  Google Scholar 

  • Lopez C, Tchanturia K, Stahl D, Al E. J Clin Exp Neuropsychol. 2008c;4:1–9.

    Google Scholar 

  • Lowe B, Zipfel S, Buchholz C, Dupont Y, Reas DL, Herzog W. Psychol Med. 2001;31:881–90.

    Article  PubMed  CAS  Google Scholar 

  • Lowe ML, Levine AS. Obes Res. 2005;13:797–806.

    Article  PubMed  Google Scholar 

  • Martin F. Acta Neurol Belg. 1958;52:816–30.

    Google Scholar 

  • Mathers C, Vos T, Stevenson C. MJA. 1999;172:592–6.

    Google Scholar 

  • Mccormick LM, Keel PK, Brumm MC, Al E. Int J Eat Disord. 2008;41:602–10.

    Article  Google Scholar 

  • Miyake A, Friedman NP, Emerson MJ, Witzki AH, Howerter A. Cogn Psychol. 2000;41:49–100.

    Article  PubMed  CAS  Google Scholar 

  • Mond JM, Hay PJ, Rodgers B, Owen C, Beumont PJ. Qual Life Res. 2005;14:171–8.

    Article  PubMed  CAS  Google Scholar 

  • Monteleone P, Tortorella A, Martiadis V, Serritella C, Fuschino A, Maj M. Psychosom Med. 2004;66:744–8.

    Article  PubMed  CAS  Google Scholar 

  • Nakazato M, Hashimoto K, Yoshimura K, Haluzik T, Shimizu E, Iyo M. Prog Neuropsychopharmacol Biol Psychiatry. 2006;30:1117–21.

    Article  PubMed  CAS  Google Scholar 

  • Palazidou E, Robinson P, Lishman WA. Psychol Med. 1990;20:521–7.

    Article  PubMed  CAS  Google Scholar 

  • Papadopoulos FC, Ekbom A, Brandt L, Ekselius L. Br J Psychiatry. 2009;194:10–7.

    Article  PubMed  Google Scholar 

  • Pelleymounter MA, Culbert MJ, Wellman CL. Exp Neurol. 1995;131:229–38.

    Article  PubMed  CAS  Google Scholar 

  • Rastam M, Gillberg C, Wentz E. Eur Child Adolesc Psychiatry. 2003;12 (Suppl 1):I78–90.

    PubMed  Google Scholar 

  • Ribases M, Gratacos M, Fernandez-Aranda F, Bellodi L, Boni C, Anderluh M, Cavallini MC, Cellini E, Di Bella D, Erzegovesi S, Foulon C, Gabrovsek M, Gorwood P, Hebebrand J, Hinney A, Holliday J, Hu X, Karwautz A, Kipman A, Komel R, Nacmias B, Remschmidt H, Ricca V, Sorbi S, Tomori M, Wagner G, Treasure J, Collier DA, Estivill X. Eur J Hum Genet. 2005;13:428–34.

    Article  PubMed  CAS  Google Scholar 

  • Ricca V, Nacmias B, Cellini E, Di Bernardo M, Rotella CM, Sorbi S. Neurosci Lett. 2002;323:105–8.

    Article  PubMed  CAS  Google Scholar 

  • Ritsner MS, Gottesman IL. Where do we stand in the quest for Neuropsychiatric Biomarkers and Endophenotypes and what next? In Ritsner MS, editor. The handbook of neuropsychiatric biomarkers, endophenotypes and genes. Berlin: Springer; 2009.

    Google Scholar 

  • Roberts ME, Tchanturia K, Stahl D, Al E. Psychol Med. 2007;37:1075–84.

    Article  PubMed  Google Scholar 

  • Roser W, Bubl R, Buergin D, Al E. Int J Eat Disord. 1999;26:119–36.

    Article  PubMed  CAS  Google Scholar 

  • Small DM, Jones-Gotman M, Daghera A. NeuroImage. 2003;19:1709–15.

    Article  PubMed  Google Scholar 

  • Smalley S, Asarnov R. J Autism Dev Disord. 1990;20:271–8.

    Article  PubMed  CAS  Google Scholar 

  • Southgate L, Tchanturia K, Treasure J. Psychiatry Res. 2008;160:221–7.

    Article  PubMed  Google Scholar 

  • Strober M, Freeman R, Lampert C, Diamond J, Kaye W. Am J Psychiatry. 2000;157:393–401.

    Article  PubMed  CAS  Google Scholar 

  • Strober M, Freeman R, Morrell W. Int J Eat Disord. 1999;25:135–42.

    Article  PubMed  CAS  Google Scholar 

  • Su JC, Birmingham CL. Eat Weight Disord. 2003;8:76–9.

    PubMed  CAS  Google Scholar 

  • Takahashi M, Tanaka K, Miyaoka H. Psychiatry Clin Neurosci. 2006;60:211–8.

    Article  PubMed  Google Scholar 

  • Tchanturia K, Morris R, Anderluh M, Al E. J Psychiatr Res. 2004;38:545–52.

    Article  PubMed  CAS  Google Scholar 

  • Tchanturia K, Morris R, Surguladze S, Al E. Eat Weight Disord. 2002;7:312–5.

    PubMed  CAS  Google Scholar 

  • Tchanturia K, Serpell L, Troop N, Al E. J Behav Ther Exp Psychiatry. 2001;32:107–15.

    Article  PubMed  CAS  Google Scholar 

  • Tchanturia K, Whitney J, Treasure J. Weight Eat Disord. 2006;11:112–7.

    Google Scholar 

  • Tiller JM, Sloane G, Schmidt U, Troop N, Power M, Treasure JL. Int J Eat Disord. 1997;21:31–8.

    Article  PubMed  CAS  Google Scholar 

  • Treasure J, Lopez C, Roberts M. Pediatric Health. 2007;1:171–81.

    Article  Google Scholar 

  • van den Eynde F, Treasure J. Child Adolesc Psychiatric Clin N Am. 2008;18:95–115.

    Google Scholar 

  • Volkow ND, Wang G-J, Fowler JS, Logan J, JayneM, Franceschi D, Wong C, Gatley SJ, Gifford AN, Ding Y-S, Pappas N. Synapse. 2002;44:175–80.

    Article  PubMed  CAS  Google Scholar 

  • Wagner A, Aizenstein H, Venkatraman VK, Fudge J, May C, Mazurkewicz L, Frank GK, Bailer U, Fischer L, Nguyen L, Carter C, Putnam K, Kaye WH. Am J Psychiatry. 2007;164:1842–9.

    Article  PubMed  Google Scholar 

  • Wentz E, Gillberg C, Anckarsater H, Gillberg C, Rastam M. Br J Psychiatry. 2009;194:168–74.

    Article  PubMed  Google Scholar 

  • Winchester E, Collier D. Genetic aetiology of eating disorders and obesity. In Treasure J, Schmidt U, Van Furth E, editors. Handbook of eating disorders. Chichester: John Wiley & Sons; 2003.

    Google Scholar 

  • Zonnevijlle-Bendek M, Van Goozen S, Cohen-Kettenis P, Al E. Eur Child Adolesc Psychiatry. 2002;11:38–42.

    Article  PubMed  Google Scholar 

  • Zonnevijlle-Bendek MJ, Van Goozen S, Cohen-Kettenis P, Al E. Depress Anxiety. 2004;19:35–42.

    Article  Google Scholar 

  • Zucker NL, Losh M, Bulik CM, Labar KS, Piven J, Pelphrey KA. Psychol Bull. 2007;133:976–1006.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Institute of Psychiatry, King’s College London, London, UK

    Janet Treasure

  2. Department of Academic Psychiatry, Eating Disorder Research Unit, Guy’s Hospital, Bermondsey Wing, SE1 9RT, London, United Kingdom

    Janet Treasure

Authors
  1. Janet Treasure
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Natalie Kanakam
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Christine-Johanna Macare
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Janet Treasure .

Editor information

Editors and Affiliations

  1. Dept. Nutrition & Dietetics, King's College, Stamford St. 150, London, SE1 9NH, United Kingdom

    Victor R. Preedy

  2. Arizona Health Science Center, Mel and Enid Zuckerman College of Public, University of Arizona, 1501 N. Campbell Ave. Room 4335, Tucson, 85724-5155, Arizona, USA

    Ronald Ross Watson

  3. University of the West of Scotland, Ayr Campus, Ayr, KA8 0SR, United Kingdom

    Colin R. Martin

Rights and permissions

Reprints and permissions

Copyright information

© 2011 Springer Science+Business Media, LLC

About this chapter

Cite this chapter

Treasure, J., Kanakam, N., Macare, CJ. (2011). Genotypes and Phenotypes of Anorexia Nervosa. In: Preedy, V., Watson, R., Martin, C. (eds) Handbook of Behavior, Food and Nutrition. Springer, New York, NY. https://doi.org/10.1007/978-0-387-92271-3_155

Download citation

  • DOI: https://doi.org/10.1007/978-0-387-92271-3_155

  • Published:

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-0-387-92270-6

  • Online ISBN: 978-0-387-92271-3

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation