ArticleMolecular psychiatry2018
Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa.
Erratum issuedOpen access · hybridAbstract read
In one paragraph
Article in Molecular psychiatry, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 18 papers.
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18citing papers in PubMed
6.8field-weighted citation impact, top 3% of its field
What it found
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Who cites it
18 citing papers in PubMed, 42 citations in OpenAlex.
- A lateral hypothalamic neuronal population expressing leptin receptors counteracts anxiety to enable adaptive behavioral responses.Nature neuroscience · 2025Article
- Application of Genetic Testing for Anorexia Nervosa: An Ethical Analysis.Brain and behavior · 2025Article
- The Risk Genes for Neuropsychiatric DisordersGenes · 2024Article
- Review
- Differential methylation patterns in lean and obese non-alcoholic steatohepatitis-associated hepatocellular carcinoma.BMC cancer · 2022Article
- What next for eating disorder genetics? Replacing myths with facts to sharpen our understanding.Molecular psychiatry · 2022Review
- Genetics and neurobiology of eating disorders.Nature neuroscience · 2022Review
- Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia.Molecular psychiatry · 2021Article
- Article
- SIRT1 accelerates the progression of activity-based anorexia.Nature communications · 2020Article
- Eating Disorders, Heredity and Environmental Activation: Getting Epigenetic Concepts into Practice.Journal of clinical medicine · 2020Review
- Behavioral Alterations in Mice Carrying HomozygousFrontiers in neuroscience · 2020Article
- Exome sequencing in a familial form of anorexia nervosa supports multigenic etiology.Journal of neural transmission (Vienna, Austria : 1996) · 2019Article
- Histone deacetylase 4 (HDAC4): a new player in anorexia nervosa?Molecular psychiatry · 2019Review
- Article
- Induced Pluripotent Stem Cells; New Tools for Investigating Molecular Mechanisms in Anorexia Nervosa.Frontiers in nutrition · 2019Review
- Genetic risk factors for eating disorders: an update and insights into pathophysiology.Therapeutic advances in psychopharmacology · 2019Review
- Genetics of Anorexia Nervosa.Current psychiatry reports · 2017Review
Corrections and comments
- Erratum issuedCorrection: Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa.2018 · Keski-Rahonen, A [corrected to Keski-Rahkonen, A]
Authors and funding
57 authors at 20 institutions in 11 countries.
L M HuckinsDepartment of Human Genetics, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.
K HatzikotoulasDepartment of Human Genetics, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.ORCID 0000-0002-4699-3672
L SouthamDepartment of Human Genetics, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.
L M ThorntonDepartment of Psychiatry and Nutrition, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
J SteinbergDepartment of Human Genetics, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.
F Aguilera-McKayDepartment of Human Genetics, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.
J TreasureSection of Eating Disorders, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
U SchmidtSection of Eating Disorders, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
C GunasingheSection of Eating Disorders, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
A RomeroSection of Eating Disorders, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
C CurtisSection of Eating Disorders, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
D RhodesSection of Eating Disorders, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
J MoensSection of Eating Disorders, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
G KalsiSection of Eating Disorders, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
D DempsterSection of Eating Disorders, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
R LeungSection of Eating Disorders, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
A KeohaneSection of Eating Disorders, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
R BurghardtKlinik für Kinder- und Jugendpsychiatrie, Psychotherapie und Psychosomatik Klinikum Frankfurt, Frankfurt, Germany.
S EhrlichDivision of Psychological and Social Medicine and Developmental Neurosciences, Faculty of Medicine, TU Dresden, Dresden, Germany.
J HebebrandDepartment of Child and Adolescent Psychiatry and Psychotherapy, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
A HinneyDepartment of Child and Adolescent Psychiatry and Psychotherapy, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
A LudolphHelmholtz Zentrum München, Deutsches Forschungszentrum für Gesundheit und Umwelt, Neuherberg, Germany.
E WaltonDivision of Psychological & Social Medicine and Developmental Neurosciences, Technische Universität Dresden, Faculty of Medicine, University Hospital C.G. Carus, Dresden, Germany.
P DeloukasDepartment of Human Genetics, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.ORCID 0000-0001-9251-070X
A HofmanErasmus University Medical Center, Rotterdam, The Netherlands.
A PalotieCenter for Human Genome Research at the Massachusetts General Hospital, Boston, MA, USA.
P PaltaDepartment of Public Health & Institute for Molecular Medicine FIMM, University of Helsinki, Helsinki, Finland.
F J A van RooijErasmus University Medical Center, Rotterdam, The Netherlands.
K StirrupsDepartment of Human Genetics, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.
R AdanBrain Center Rudolf Magnus, Department of Neuroscience and Pharmacology, University Medical Center Utrecht, Utrecht, The Netherlands.
C BoniINSERM U984, Centre of Psychiatry and Neuroscience, Paris, France.
R ConeMary Sue Coleman Director, Life Sciences Institute, Professor of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, MI, USA.
G DedoussisDepartment of Dietetics-Nutrition, Harokopio University, Athens, Greece.
E van FurthRivierduinen Eating Disorders Ursula, Leiden, Zuid-Holland, The Netherlands.
F GonidakisEating Disorders Unit, 1st Department of Psychiatry, National and Kapodistrian University of Athens, Medical School, Athens, Greece.
P GorwoodINSERM U984, Centre of Psychiatry and Neuroscience, Paris, France.ORCID 0000-0003-1845-3676
J HudsonDepartment of Psychiatry, McLean Hospital/Harvard Medical School, Belmont, MA, USA.
J KaprioDepartment of Public Health & Institute for Molecular Medicine FIMM, University of Helsinki, Helsinki, Finland.ORCID 0000-0002-3716-2455
M KasGroningen Institute for Evolutionary Life Sciences, University of Groningen, Groningen, The Netherlands.ORCID 0000-0002-4471-8618
A Keski-RahkonenDepartment of Public Health, Clinicum, University of Helsinki, Helsinki, Finland.
K KiezebrinkInstitute of Applied Health Sciences, University of Aberdeen, Aberdeen, UK.
G-P KnudsenHealth Data and Digitalisation, Norwegian Institute of Public Health, Oslo, Norway.
M C T Slof-Op 't LandtRivierduinen Eating Disorders Ursula, Leiden, Zuid-Holland, The Netherlands.
M MajDepartment of Psychiatry, University of Naples SUN, Naples, Italy.
A M MonteleoneDepartment of Psychiatry, University of Naples SUN, Naples, Italy.
P MonteleoneDepartment of Medicine and Surgery, Section of Neurosciences, University of Salerno, Salerno, Italy.
A H RaevuoriDepartment of Public Health, Clinicum, University of Helsinki, Helsinki, Finland.
T Reichborn-KjennerudDepartment of Genetics, Environment and Mental Health, Norwegian Institute of Public Health, Oslo, Norway.
F TozzieHealth Lab-Computer Science Department, University of Cyprus, Nicosia, Cyprus.
A TsitsikaAdolescent Health Unit (A.H.U.), 2nd Department of Pediatrics - Medical School, University of Athens "P. & A. Kyriakou" Children's Hospital, Athens, Greece.
A van ElburgCenter for Eating Disorders Rintveld, University of Utrecht, Utrecht, The Netherlands.
Eating Disorder Working Group of the Psychiatric Genomics Consortium
D A CollierEli Lilly and Company, Erl Wood Manor, Windlesham, UK.
P F SullivanDepartments of Genetics and Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
G BreenSocial Genetic and Developmental Psychiatry, King's College London, London, UK.ORCID 0000-0003-2053-1792
C M BulikDepartment of Psychiatry and Nutrition, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
E ZegginiDepartment of Human Genetics, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.
King's College London · GBWellcome Sanger Institute · GBUniversity of Helsinki · FIUniversity of North Carolina at Chapel Hill · USErasmus MC · NLGGZ Rivierduinen · NLInserm · FRNational and Kapodistrian University of Athens · GRNorwegian Institute of Public Health · NOUniversity of Duisburg-Essen · DEUniversity of Naples Federico II · ITEli Lilly (United Kingdom) · GBGeorgia State University · USHarokopio University of Athens · GRHarvard University · USHelmholtz Zentrum München · DETechnische Universität Dresden · DEUniversity Medical Center Utrecht · NLUniversity of Aberdeen · GBUniversity of Cyprus · CY
Funding
VESICULAR LOCALIZATION AND FUNCTION OF PRESENILIN 1 FRAGMENTP50AG005138 · NIA · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI GROSSMAN, HILLEL · 1985 to 2019
$37.9MTargeting the p53 pathway for reversal of oral premalignancyP50CA097007 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI MILLS, GORDON B. · 2002 to 2012
$26.1MUT M.D. Anderson Cancer Center SPORE in MelanomaP50CA093459 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI GRIMM, ELIZABETH A · 2004 to 2014
$23.7MQUANTITATIVE ANALYSIS OF MICROVASCULAR CHANGES IN THE AGING BRAINP01AG002219 · NIA · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI HAROUTUNIAN, VAHRAM · 1985 to 2009
$19.2MWhite Matter Abnormalities in SchizophreniaP50MH066392 · NIMH · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI O'DONOVAN, MICHAEL J · 2002 to 2012
$18.6MProject 5: In vivo measurement of GABA transmission in healthy controls & subjectP50MH084053 · NIMH · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI LEWIS, DAVID A · 2008 to 2012
$11.5MInternational Cohort Collection for Bipolar DisorderR01MH085542 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI SMOLLER, JORDAN W · 2008 to 2012
$10.7MMolecular Epidemiology of Head and Neck CancerR01ES011740 · NIEHS · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI WEI, QINGYI · 2001 to 2012
$6.3MGenetics Association in Schizophrenia and Other DisordersR37MH057881 · NIMH · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI DEVLIN, BERNIE · 2013 to 2022
$5.4MSrc mediates molecular alterations leading to NMDAR hypofunction in schizophreniaR01MH075916 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI BORGMANN-WINTER, KARIN, HAHN, CHANG-GYU · 2006 to 2019
$3.3MIdentifying therapeutic targets for autism using Shank3-deficient miceR01MH093725 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BUXBAUM, JOSEPH D. · 2011 to 2015
$2.5M1/3-Networks from Multidimensional Data for Schizophrenia and Related DisordersR01MH097276 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI SCHADT, ERIC E, SKLAR, PAMELA · 2012 to 2014
$2.5MDepartment of HealthMedical Research Council MR/J500355/1NCI NIH HHS P50 CA093459NCI NIH HHS P50 CA097007NCI NIH HHS R01 CA133996NIA NIH HHS P01 AG002219NIA NIH HHS P50 AG005138NIEHS NIH HHS R01 ES011740NIMH NIH HHS HHSN271201300031CNIMH NIH HHS K01 MH109782NIMH NIH HHS P50 MH066392NIMH NIH HHS P50 MH084053NIMH NIH HHS R01 MH075916NIMH NIH HHS R01 MH080405NIMH NIH HHS R01 MH085542NIMH NIH HHS R01 MH093725NIMH NIH HHS R01 MH097276NIMH NIH HHS R37 MH057881NIMH NIH HHS U01 MH109528Wellcome Trust 098051Wellcome Trust WT088827/Z/09
Abstract
Anorexia nervosa (AN) is a complex neuropsychiatric disorder presenting with dangerously low body weight, and a deep and persistent fear of gaining weight. To date, only one genome-wide significant locus associated with AN has been identified. We performed an exome-chip based genome-wide association studies (GWAS) in 2158 cases from nine populations of European origin and 15 485 ancestrally matched controls. Unlike previous studies, this GWAS also probed association in low-frequency and rare variants. Sixteen independent variants were taken forward for in silico and de novo replication (11 common and 5 rare). No findings reached genome-wide significance. Two notable common variants were identified: rs10791286, an intronic variant in OPCML (P=9.89 × 10
Indexed as
Anorexia NervosaCell Adhesion MoleculesExomeFamilyFemaleGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyGenotypeGPI-Linked ProteinsHumansIntronsMalePhenotypePolymorphism, Single NucleotideWhite PeopleCell Adhesion MoleculesGPI-Linked ProteinsOPCML protein, human
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