@article{2998851,
    title = "A genome-wide association study of anorexia nervosa",
    author = "Boraska, V. and Franklin, C.S. and Floyd, J.A.B. and Thornton, L.M. and Huckins, L.M. and Southam, L. and Rayner, N.W. and Tachmazidou, I. and Klump, K.L. and Treasure, J. and Lewis, C.M. and Schmidt, U. and Tozzi, F. and Kiezebrink, K. and Hebebrand, J. and Gorwood, P. and Adan, R.A.H. and Kas, M.J.H. and Favaro, A. and Santonastaso, P. and Fernández-Aranda, F. and Gratacos, M. and Rybakowski, F. and Dmitrzak-Weglarz, M. and Kaprio, J. and Keski-Rahkonen, A. and Raevuori, A. and Van Furth, E.F. and Slof-Op 't Landt, M.C.T. and Hudson, J.I. and Reichborn-Kjennerud, T. and Knudsen, G.P.S. and Monteleone, P. and Kaplan, A.S. and Karwautz, A. and Hakonarson, H. and Berrettini, W.H. and Guo, Y. and Li, D. and Schork, N.J. and Komaki, G. and Ando, T. and Inoko, H. and Esko, T. and Fischer, K. and Männik, K. and Metspalu, A. and Baker, J.H. and Cone, R.D. and Dackor, J. and DeSocio, J.E. and Hilliard, C.E. and O'Toole, J.K. and Pantel, J. and Szatkiewicz, J.P. and Taico, C. and Zerwas, S. and Trace, S.E. and Davis, O.S.P. and Helder, S. and Bühren, K. and Burghardt, R. and De Zwaan, M. and Egberts, K. and Ehrlich, S. and Herpertz-Dahlmann, B. and Herzog, W. and Imgart, H. and Scherag, A. and Scherag, S. and Zipfel, S. and Boni, C. and Ramoz, N. and Versini, A. and Brandys, M.K. and Danner, U.N. and De Kovel, C. and Hendriks, J. and Koeleman, B.P.C. and Ophoff, R.A. and Strengman, E. and Van Elburg, A.A. and Bruson, A. and Clementi, M. and Degortes, D. and Forzan, M. and Tenconi, E. and Docampo, E. and Escaramís, G. and Jiménez-Murcia, S. and Lissowska, J. and Rajewski, A. and Szeszenia-Dabrowska, N. and Slopien, A. and Hauser, J. and Karhunen, L. and Meulenbelt, I. and Slagboom, P.E. and Tortorella, A. and Maj, M. and Dedoussis, G. and Dikeos, D. and Gonidakis, F. and Tziouvas, K. and Tsitsika, A. and Papezova, H. and Slachtova, L. and Martaskova, D. and Kennedy, J.L. and Levitan, R.D. and Yilmaz, Z. and Huemer, J. and Koubek, D. and Merl, E. and Wagner, G. and Lichtenstein, P. and Breen, G. and Cohen-Woods, S. and Farmer, A. and McGuffin, P. and Cichon, S. and Giegling, I. and Herms, S. and Rujescu, D. and Schreiber, S. and Wichmann, H.-E. and Dina, C. and Sladek, R. and Gambaro, G. and Soranzo, N. and Julia, A. and Marsal, S. and Rabionet, R. and Gaborieau, V. and Dick, D.M. and Palotie, A. and Ripatti, S. and Widén, E. and Andreassen, O.A. and Espeseth, T. and Lundervold, A. and Reinvang, I. and Steen, V.M. and Le Hellard, S. and Mattingsdal, M. and Ntalla, I. and Bencko, V. and Foretova, L. and Janout, V. and Navratilova, M. and Gallinger, S. and Pinto, D. and Scherer, S.W. and Aschauer, H. and Carlberg, L. and Schosser, A. and Alfredsson, L. and Ding, B. and Klareskog, L. and Padyukov, L. and Courtet, P. and Guillaume, S. and Jaussent, I. and Finan, C. and Kalsi, G. and Roberts, M. and Logan, D.W. and Peltonen, L. and Ritchie, G.R.S. and Barrett, J.C. and Anderson, C.A. and McGinnis, R. and Zeggini, E. and Sambrook, J. and Stephens, J. and Ouwehand, W.H. and McArdle, W.L. and Ring, S.M. and Strachan, D.P. and Alexander, G. and Bulik, C.M. and Collier, D.A. and Conlon, P.J. and Dominiczak, A. and Duncanson, A. and Hill, A. and Langford, C. and Lord, G. and Maxwell, A.P. and Morgan, L. and Sandford, R.N. and Sheerin, N. and Vannberg, F.O. and Blackburn, H. and Chen, W.-M. and Edkins, S. and Gillman, M. and Gray, E. and Hunt, S.E. and Onengut-Gumuscu, S. and Potter, S. and Rich, S.S. and Simpkin, D. and Whittaker, P. and Estivill, X. and Hinney, A. and Sullivan, P.F. and The Wellcome Trust Case Control Consortium 3",
    journal = "Journal of Molecular Psychiatry",
    year = "2014",
    volume = "19",
    number = "10",
    pages = "1085-1094",
    publisher = "Nature Publishing Group",
    issn = "2049-9256",
    doi = "10.1038/mp.2013.187",
    keywords = "cullin;  cullin 3;  FAM124B protein;  PPP3CA protein;  protein;  SPATA13 protein;  transcription factor Sox2;  unclassified drug;  calcineurin;  carrier protein;  CUL3 protein, human;  cullin;  FAM124B protein, human;  guanine nucleotide exchange factor;  nuclear protein;  PPP3CA protein, human;  SPATA13 protein, human, ancestry group;  anorexia nervosa;  Article;  attention deficit disorder;  bipolar disorder;  body mass;  comparative study;  computer model;  controlled study;  female;  genome-wide association study;  genotype;  human;  major clinical study;  major depression;  nerve cell network;  obesity;  priority journal;  schizophrenia;  single nucleotide polymorphism;  synapse;  anorexia nervosa;  Asian continental ancestry group;  case control study;  Caucasian;  genetics;  genome-wide association study;  Japan;  male;  meta analysis (topic), Anorexia Nervosa;  Asian Continental Ancestry Group;  Calcineurin;  Carrier Proteins;  Case-Control Studies;  Cullin Proteins;  European Continental Ancestry Group;  Female;  Genome-Wide Association Study;  Guanine Nucleotide Exchange Factors;  Humans;  Japan;  Male;  Meta-Analysis as Topic;  Nuclear Proteins;  Polymorphism, Single Nucleotide",
    abstract = "Anorexia nervosa (AN) is a complex and heritable eating disorder characterized by dangerously low body weight. Neither candidate gene studies nor an initial genome-wide association study (GWAS) have yielded significant and replicated results. We performed a GWAS in 2907 cases with AN from 14 countries (15 sites) and 14 860 ancestrally matched controls as part of the Genetic Consortium for AN (GCAN) and the Wellcome Trust Case Control Consortium 3 (WTCCC3). Individual association analyses were conducted in each stratum and meta-analyzed across all 15 discovery data sets. Seventy-six (72 independent) single nucleotide polymorphisms were taken forward for in silico (two data sets) or de novo (13 data sets) replication genotyping in 2677 independent AN cases and 8629 European ancestry controls along with 458 AN cases and 421 controls from Japan. The final global meta-analysis across discovery and replication data sets comprised 5551 AN cases and 21 080 controls. AN subtype analyses (1606 AN restricting; 1445 AN binge-purge) were performed. No findings reached genome-wide significance. Two intronic variants were suggestively associated: rs9839776 (P = 3.01 × 10-7) in SOX2OT and rs17030795 (P = 5.84 × 10-6) in PPP3CA. Two additional signals were specific to Europeans: rs1523921 (P = 5.76 × 10-6) between CUL3 and FAM124B and rs1886797 (P = 8.05 × 10-6) near SPATA13. Comparing discovery with replication results, 76% of the effects were in the same direction, an observation highly unlikely to be due to chance (P = 4 × 10-6), strongly suggesting that true findings exist but our sample, the largest yet reported, was underpowered for their detection. The accrual of large genotyped AN case-control samples should be an immediate priority for the field. © 2014 Macmillan Publishers Limited All rights reserved."
}