A genome-wide association study of anorexia nervosa

Giovanni Gambaro; V. Boraska; C. S. Franklin; James A.B. Floyd; L. M. Thornton; L. M. Huckins; L. Southam; N. W. Rayner; I. Tachmazidou; K. L. Klump; J. Treasure; C. M. Lewis; U. Schmidt; F. Tozzi; K. Kiezebrink; J. Hebebrand; P. Gorwood; R. A.H. Adan; M. J.H. Kas; A. Favaro; P. Santonastaso; F. Fernández-Aranda; M. Gratacos; F. Rybakowski; M. Dmitrzak-Weglarz; J. Kaprio; A. Keski-Rahkonen; A. Raevuori; E. F. Van Furth; M. C.T. Slof-Op 'T Landt; J. I. Hudson; T. Reichborn-Kjennerud; G. P.S. Knudsen; P. Monteleone; A. S. Kaplan; A. Karwautz; H. Hakonarson; W. H. Berrettini; Y. Guo; D. Li; N. J. Schork; G. Komaki; T. Ando; H. Inoko; T. Esko; K. Fischer; K. Männik; A. Metspalu; J. H. Baker; R. D. Cone; J. Dackor; J. E. Desocio; C. E. Hilliard; J. K. O'Toole; J. Pantel; J. P. Szatkiewicz; C. Taico; S. Zerwas; S. E. Trace; O. S.P. Davis; S. Helder; K. Bühren; R. Burghardt; M. De Zwaan; K. Egberts; S. Ehrlich; B. Herpertz-Dahlmann; W. Herzog; H. Imgart; A. Scherag; S. Scherag; S. Zipfel; C. Boni; N. Ramoz; A. Versini; M. K. Brandys; U. N. Danner; C. De Kovel; J. Hendriks; B. P.C. Koeleman; R. A. Ophoff; E. Strengman; A. A. Van Elburg; A. Bruson; M. Clementi; D. Degortes; M. Forzan; E. Tenconi; E. Docampo; G. Escaramís; S. Jiménez-Murcia; J. Lissowska; A. Rajewski; N. Szeszenia-Dabrowska; A. Slopien; J. Hauser; L. Karhunen; I. Meulenbelt; P. E. Slagboom; A. Tortorella; M. Maj; G. Dedoussis; D. Dikeos; F. Gonidakis; K. Tziouvas; A. Tsitsika; H. Papezova; L. Slachtova; D. Martaskova; J. L. Kennedy; R. D. Levitan; Z. Yilmaz; J. Huemer; D. Koubek; E. Merl; G. Wagner; P. Lichtenstein; G. Breen; S. Cohen-Woods; A. Farmer; P. Mcguffin; S. Cichon; I. Giegling; S. Herms; D. Rujescu; S. Schreiber; H. E. Wichmann; C. Dina; R. Sladek; Nicole Soranzo; A. Julia; S. Marsal; R. Rabionet; V. Gaborieau; D. M. Dick; A. Palotie; S. Ripatti; E. Widén; O. A. Andreassen; T. Espeseth; A. Lundervold; I. Reinvang; V. M. Steen; S. Le Hellard; M. Mattingsdal; I. Ntalla; V. Bencko; L. Foretova; V. Janout; M. Navratilova; S. Gallinger; D. Pinto; S. W. Scherer; H. Aschauer; L. Carlberg; A. Schosser; L. Alfredsson; B. Ding; L. Klareskog; L. Padyukov; P. Courtet; S. Guillaume; I. Jaussent; C. Finan; G. Kalsi; M. Roberts; D. W. Logan; Leena Peltonen; G. R.S. Ritchie; Jeffrey C. Barrett; Carl A. Anderson; Ralph Mcginnis; Eleftheria Zeggini; Jennifer Sambrook; Jonathan Stephens; Willem H. Ouwehand; Wendy L. Mcardle; Susan M. Ring; David P. Strachan; Graeme Alexander; Cynthia M. Bulik; David A. Collier; Peter J. Conlon; Anna Dominiczak; Audrey Duncanson; Adrian Hill; Cordelia Langford; Graham Lord; Alexander P. Maxwell; Linda Morgan; Richard N. Sandford; Neil Sheerin; Fredrik O. Vannberg; Hannah Blackburn; Wei-Min Chen; Sarah Edkins; Mathew Gillman; Emma Gray; Sarah E. Hunt; Suna Onengut-Gumuscu; Simon Potter; Stephen S. Rich; Douglas Simpkin; Pamela Whittaker; X. Estivill; A. Hinney; P. F. Sullivan

doi:10.1038/mp.2013.187

A genome-wide association study of anorexia nervosa

Giovanni Gambaro, V. Boraska, C. S. Franklin, James A.B. Floyd, L. M. Thornton, L. M. Huckins, L. Southam, N. W. Rayner, I. Tachmazidou, K. L. Klump, J. Treasure, C. M. Lewis, U. Schmidt, F. Tozzi, K. Kiezebrink, J. Hebebrand, P. Gorwood, R. A.H. Adan, M. J.H. Kas, A. FavaroP. Santonastaso, F. Fernández-Aranda, M. Gratacos, F. Rybakowski, M. Dmitrzak-Weglarz, J. Kaprio, A. Keski-Rahkonen, A. Raevuori, E. F. Van Furth, M. C.T. Slof-Op 'T Landt, J. I. Hudson, T. Reichborn-Kjennerud, G. P.S. Knudsen, P. Monteleone, A. S. Kaplan, A. Karwautz, H. Hakonarson, W. H. Berrettini, Y. Guo, D. Li, N. J. Schork, G. Komaki, T. Ando, H. Inoko, T. Esko, K. Fischer, K. Männik, A. Metspalu, J. H. Baker, R. D. Cone, J. Dackor, J. E. Desocio, C. E. Hilliard, J. K. O'Toole, J. Pantel, J. P. Szatkiewicz, C. Taico, S. Zerwas, S. E. Trace, O. S.P. Davis, S. Helder, K. Bühren, R. Burghardt, M. De Zwaan, K. Egberts, S. Ehrlich, B. Herpertz-Dahlmann, W. Herzog, H. Imgart, A. Scherag, S. Scherag, S. Zipfel, C. Boni, N. Ramoz, A. Versini, M. K. Brandys, U. N. Danner, C. De Kovel, J. Hendriks, B. P.C. Koeleman, R. A. Ophoff, E. Strengman, A. A. Van Elburg, A. Bruson, M. Clementi, D. Degortes, M. Forzan, E. Tenconi, E. Docampo, G. Escaramís, S. Jiménez-Murcia, J. Lissowska, A. Rajewski, N. Szeszenia-Dabrowska, A. Slopien, J. Hauser, L. Karhunen, I. Meulenbelt, P. E. Slagboom, A. Tortorella, M. Maj, G. Dedoussis, D. Dikeos, F. Gonidakis, K. Tziouvas, A. Tsitsika, H. Papezova, L. Slachtova, D. Martaskova, J. L. Kennedy, R. D. Levitan, Z. Yilmaz, J. Huemer, D. Koubek, E. Merl, G. Wagner, P. Lichtenstein, G. Breen, S. Cohen-Woods, A. Farmer, P. Mcguffin, S. Cichon, I. Giegling, S. Herms, D. Rujescu, S. Schreiber, H. E. Wichmann, C. Dina, R. Sladek, Nicole Soranzo, A. Julia, S. Marsal, R. Rabionet, V. Gaborieau, D. M. Dick, A. Palotie, S. Ripatti, E. Widén, O. A. Andreassen, T. Espeseth, A. Lundervold, I. Reinvang, V. M. Steen, S. Le Hellard, M. Mattingsdal, I. Ntalla, V. Bencko, L. Foretova, V. Janout, M. Navratilova, S. Gallinger, D. Pinto, S. W. Scherer, H. Aschauer, L. Carlberg, A. Schosser, L. Alfredsson, B. Ding, L. Klareskog, L. Padyukov, P. Courtet, S. Guillaume, I. Jaussent, C. Finan, G. Kalsi, M. Roberts, D. W. Logan, Leena Peltonen, G. R.S. Ritchie, Jeffrey C. Barrett, Carl A. Anderson, Ralph Mcginnis, Eleftheria Zeggini, Jennifer Sambrook, Jonathan Stephens, Willem H. Ouwehand, Wendy L. Mcardle, Susan M. Ring, David P. Strachan, Graeme Alexander, Cynthia M. Bulik, David A. Collier, Peter J. Conlon, Anna Dominiczak, Audrey Duncanson, Adrian Hill, Cordelia Langford, Graham Lord, Alexander P. Maxwell, Linda Morgan, Richard N. Sandford, Neil Sheerin, Fredrik O. Vannberg, Hannah Blackburn, Wei-Min Chen, Sarah Edkins, Mathew Gillman, Emma Gray, Sarah E. Hunt, Suna Onengut-Gumuscu, Simon Potter, Stephen S. Rich, Douglas Simpkin, Pamela Whittaker, X. Estivill, A. Hinney, P. F. Sullivan

Università Cattolica del Sacro Cuore

Risultato della ricerca: Contributo in rivista › Articolo in rivista › peer review

176 Citazioni (Scopus)

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.Molecular Psychiatry advance online publication, 11 February 2014; doi:10.1038/mp.2013.187.

Lingua originale	English
pagine (da-a)	N/A-N/A
Rivista	Molecular Psychiatry
DOI	https://doi.org/10.1038/mp.2013.187
Stato di pubblicazione	Pubblicato - 2014

Keywords

Anorexia
GWAS

Accesso al documento

10.1038/mp.2013.187

Altri file e collegamenti

Link a IRIS PubliCatt

Cita questo

Gambaro, G., Boraska, V., Franklin, C. S., Floyd, J. A. B., Thornton, L. M., Huckins, L. M., Southam, L., Rayner, N. W., Tachmazidou, I., Klump, K. L., Treasure, J., Lewis, C. M., Schmidt, U., Tozzi, F., Kiezebrink, K., Hebebrand, J., Gorwood, P., Adan, R. A. H., Kas, M. J. H., ... Sullivan, P. F. (2014). A genome-wide association study of anorexia nervosa. Molecular Psychiatry, N/A-N/A. https://doi.org/10.1038/mp.2013.187

@article{204f37b7ecd8483b9806b3844021c59f,

title = "A genome-wide association study of anorexia nervosa",

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.Molecular Psychiatry advance online publication, 11 February 2014; doi:10.1038/mp.2013.187.",

keywords = "Anorexia, GWAS, Anorexia, GWAS",

author = "Giovanni Gambaro and V. Boraska and Franklin, {C. S.} and Floyd, {James A.B.} and Thornton, {L. M.} and Huckins, {L. M.} and L. Southam and Rayner, {N. W.} and I. Tachmazidou and Klump, {K. L.} and J. Treasure and Lewis, {C. M.} and U. Schmidt and F. Tozzi and K. Kiezebrink and J. Hebebrand and P. Gorwood and Adan, {R. A.H.} and Kas, {M. J.H.} and A. Favaro and P. Santonastaso and F. Fern{\'a}ndez-Aranda and M. Gratacos and F. Rybakowski and M. Dmitrzak-Weglarz and J. Kaprio and A. Keski-Rahkonen and A. Raevuori and {Van Furth}, {E. F.} and {Slof-Op 'T Landt}, {M. C.T.} and Hudson, {J. I.} and T. Reichborn-Kjennerud and Knudsen, {G. P.S.} and P. Monteleone and Kaplan, {A. S.} and A. Karwautz and H. Hakonarson and Berrettini, {W. H.} and Y. Guo and D. Li and Schork, {N. J.} and G. Komaki and T. Ando and H. Inoko and T. Esko and K. Fischer and K. M{\"a}nnik and A. Metspalu and Baker, {J. H.} and Cone, {R. D.} and J. Dackor and Desocio, {J. E.} and Hilliard, {C. E.} and O'Toole, {J. K.} and J. Pantel and Szatkiewicz, {J. P.} and C. Taico and S. Zerwas and Trace, {S. E.} and Davis, {O. S.P.} and S. Helder and K. B{\"u}hren and R. Burghardt and {De Zwaan}, M. and K. Egberts and S. Ehrlich and B. Herpertz-Dahlmann and W. Herzog and H. Imgart and A. Scherag and S. Scherag and S. Zipfel and C. Boni and N. Ramoz and A. Versini and Brandys, {M. K.} and Danner, {U. N.} and {De Kovel}, C. and J. Hendriks and Koeleman, {B. P.C.} and Ophoff, {R. A.} and E. Strengman and {Van Elburg}, {A. A.} and A. Bruson and M. Clementi and D. Degortes and M. Forzan and E. Tenconi and E. Docampo and G. Escaram{\'i}s and S. Jim{\'e}nez-Murcia and J. Lissowska and A. Rajewski and N. Szeszenia-Dabrowska and A. Slopien and J. Hauser and L. Karhunen and I. Meulenbelt and Slagboom, {P. E.} and A. Tortorella and M. Maj and G. Dedoussis and D. Dikeos and F. Gonidakis and K. Tziouvas and A. Tsitsika and H. Papezova and L. Slachtova and D. Martaskova and Kennedy, {J. L.} and Levitan, {R. D.} and Z. Yilmaz and J. Huemer and D. Koubek and E. Merl and G. Wagner and P. Lichtenstein and G. Breen and S. Cohen-Woods and A. Farmer and P. Mcguffin and S. Cichon and I. Giegling and S. Herms and D. Rujescu and S. Schreiber and Wichmann, {H. E.} and C. Dina and R. Sladek and Nicole Soranzo and A. Julia and S. Marsal and R. Rabionet and V. Gaborieau and Dick, {D. M.} and A. Palotie and S. Ripatti and E. Wid{\'e}n and Andreassen, {O. A.} and T. Espeseth and A. Lundervold and I. Reinvang and Steen, {V. M.} and {Le Hellard}, S. and M. Mattingsdal and I. Ntalla and V. Bencko and L. Foretova and V. Janout and M. Navratilova and S. Gallinger and D. Pinto and Scherer, {S. W.} and H. Aschauer and L. Carlberg and A. Schosser and L. Alfredsson and B. Ding and L. Klareskog and L. Padyukov and P. Courtet and S. Guillaume and I. Jaussent and C. Finan and G. Kalsi and M. Roberts and Logan, {D. W.} and Leena Peltonen and Ritchie, {G. R.S.} and Barrett, {Jeffrey C.} and Anderson, {Carl A.} and Ralph Mcginnis and Eleftheria Zeggini and Jennifer Sambrook and Jonathan Stephens and Ouwehand, {Willem H.} and Mcardle, {Wendy L.} and Ring, {Susan M.} and Strachan, {David P.} and Graeme Alexander and Bulik, {Cynthia M.} and Collier, {David A.} and Conlon, {Peter J.} and Anna Dominiczak and Audrey Duncanson and Adrian Hill and Cordelia Langford and Graham Lord and Maxwell, {Alexander P.} and Linda Morgan and Sandford, {Richard N.} and Neil Sheerin and Vannberg, {Fredrik O.} and Hannah Blackburn and Wei-Min Chen and Sarah Edkins and Mathew Gillman and Emma Gray and Hunt, {Sarah E.} and Suna Onengut-Gumuscu and Simon Potter and Rich, {Stephen S.} and Douglas Simpkin and Pamela Whittaker and X. Estivill and A. Hinney and Sullivan, {P. F.}",

year = "2014",

doi = "10.1038/mp.2013.187",

language = "English",

pages = "N/A--N/A",

journal = "Molecular Psychiatry",

issn = "1359-4184",

publisher = "Nature Publishing Group:Brunel Road Houndmills, Basingstoke RG21 6XS United Kingdom:011 44 20 78334000, EMAIL: institutions@natureny.com, INTERNET: http://www.nature.com, Fax: 011 44 20 78434640",

}

Gambaro, G, Boraska, V, Franklin, CS, Floyd, JAB, Thornton, LM, Huckins, LM, Southam, L, Rayner, NW, Tachmazidou, I, Klump, KL, Treasure, J, Lewis, CM, Schmidt, U, Tozzi, F, Kiezebrink, K, Hebebrand, J, Gorwood, P, Adan, RAH, Kas, MJH, Favaro, A, Santonastaso, P, Fernández-Aranda, F, Gratacos, M, Rybakowski, F, Dmitrzak-Weglarz, M, Kaprio, J, Keski-Rahkonen, A, Raevuori, A, Van Furth, EF, Slof-Op 'T Landt, MCT, Hudson, JI, Reichborn-Kjennerud, T, Knudsen, GPS, Monteleone, P, Kaplan, AS, Karwautz, A, Hakonarson, H, Berrettini, WH, Guo, Y, Li, D, Schork, NJ, Komaki, G, Ando, T, Inoko, H, Esko, T, Fischer, K, Männik, K, Metspalu, A, Baker, JH, Cone, RD, Dackor, J, Desocio, JE, Hilliard, CE, O'Toole, JK, Pantel, J, Szatkiewicz, JP, Taico, C, Zerwas, S, Trace, SE, Davis, OSP, Helder, S, Bühren, K, Burghardt, R, De Zwaan, M, Egberts, K, Ehrlich, S, Herpertz-Dahlmann, B, Herzog, W, Imgart, H, Scherag, A, Scherag, S, Zipfel, S, Boni, C, Ramoz, N, Versini, A, Brandys, MK, Danner, UN, De Kovel, C, Hendriks, J, Koeleman, BPC, Ophoff, RA, Strengman, E, Van Elburg, AA, Bruson, A, Clementi, M, Degortes, D, Forzan, M, Tenconi, E, Docampo, E, Escaramís, G, Jiménez-Murcia, S, Lissowska, J, Rajewski, A, Szeszenia-Dabrowska, N, Slopien, A, Hauser, J, Karhunen, L, Meulenbelt, I, Slagboom, PE, Tortorella, A, Maj, M, Dedoussis, G, Dikeos, D, Gonidakis, F, Tziouvas, K, Tsitsika, A, Papezova, H, Slachtova, L, Martaskova, D, Kennedy, JL, Levitan, RD, Yilmaz, Z, Huemer, J, Koubek, D, Merl, E, Wagner, G, Lichtenstein, P, Breen, G, Cohen-Woods, S, Farmer, A, Mcguffin, P, Cichon, S, Giegling, I, Herms, S, Rujescu, D, Schreiber, S, Wichmann, HE, Dina, C, Sladek, R, Soranzo, N, Julia, A, Marsal, S, Rabionet, R, Gaborieau, V, Dick, DM, Palotie, A, Ripatti, S, Widén, E, Andreassen, OA, Espeseth, T, Lundervold, A, Reinvang, I, Steen, VM, Le Hellard, S, Mattingsdal, M, Ntalla, I, Bencko, V, Foretova, L, Janout, V, Navratilova, M, Gallinger, S, Pinto, D, Scherer, SW, Aschauer, H, Carlberg, L, Schosser, A, Alfredsson, L, Ding, B, Klareskog, L, Padyukov, L, Courtet, P, Guillaume, S, Jaussent, I, Finan, C, Kalsi, G, Roberts, M, Logan, DW, Peltonen, L, Ritchie, GRS, Barrett, JC, Anderson, CA, Mcginnis, R, Zeggini, E, Sambrook, J, Stephens, J, Ouwehand, WH, Mcardle, WL, Ring, SM, Strachan, DP, Alexander, G, Bulik, CM, Collier, DA, Conlon, PJ, Dominiczak, A, Duncanson, A, Hill, A, Langford, C, Lord, G, Maxwell, AP, Morgan, L, Sandford, RN, Sheerin, N, Vannberg, FO, Blackburn, H, Chen, W-M, Edkins, S, Gillman, M, Gray, E, Hunt, SE, Onengut-Gumuscu, S, Potter, S, Rich, SS, Simpkin, D, Whittaker, P, Estivill, X, Hinney, A & Sullivan, PF 2014, 'A genome-wide association study of anorexia nervosa', Molecular Psychiatry, pagg. N/A-N/A. https://doi.org/10.1038/mp.2013.187

TY - JOUR

T1 - A genome-wide association study of anorexia nervosa

AU - Gambaro, Giovanni

AU - Boraska, V.

AU - Franklin, C. S.

AU - Floyd, James A.B.

AU - Thornton, L. M.

AU - Huckins, L. M.

AU - Southam, L.

AU - Rayner, N. W.

AU - Tachmazidou, I.

AU - Klump, K. L.

AU - Treasure, J.

AU - Lewis, C. M.

AU - Schmidt, U.

AU - Tozzi, F.

AU - Kiezebrink, K.

AU - Hebebrand, J.

AU - Gorwood, P.

AU - Adan, R. A.H.

AU - Kas, M. J.H.

AU - Favaro, A.

AU - Santonastaso, P.

AU - Fernández-Aranda, F.

AU - Gratacos, M.

AU - Rybakowski, F.

AU - Dmitrzak-Weglarz, M.

AU - Kaprio, J.

AU - Keski-Rahkonen, A.

AU - Raevuori, A.

AU - Van Furth, E. F.

AU - Slof-Op 'T Landt, M. C.T.

AU - Hudson, J. I.

AU - Reichborn-Kjennerud, T.

AU - Knudsen, G. P.S.

AU - Monteleone, P.

AU - Kaplan, A. S.

AU - Karwautz, A.

AU - Hakonarson, H.

AU - Berrettini, W. H.

AU - Guo, Y.

AU - Li, D.

AU - Schork, N. J.

AU - Komaki, G.

AU - Ando, T.

AU - Inoko, H.

AU - Esko, T.

AU - Fischer, K.

AU - Männik, K.

AU - Metspalu, A.

AU - Baker, J. H.

AU - Cone, R. D.

AU - Dackor, J.

AU - Desocio, J. E.

AU - Hilliard, C. E.

AU - O'Toole, J. K.

AU - Pantel, J.

AU - Szatkiewicz, J. P.

AU - Taico, C.

AU - Zerwas, S.

AU - Trace, S. E.

AU - Davis, O. S.P.

AU - Helder, S.

AU - Bühren, K.

AU - Burghardt, R.

AU - De Zwaan, M.

AU - Egberts, K.

AU - Ehrlich, S.

AU - Herpertz-Dahlmann, B.

AU - Herzog, W.

AU - Imgart, H.

AU - Scherag, A.

AU - Scherag, S.

AU - Zipfel, S.

AU - Boni, C.

AU - Ramoz, N.

AU - Versini, A.

AU - Brandys, M. K.

AU - Danner, U. N.

AU - De Kovel, C.

AU - Hendriks, J.

AU - Koeleman, B. P.C.

AU - Ophoff, R. A.

AU - Strengman, E.

AU - Van Elburg, A. A.

AU - Bruson, A.

AU - Clementi, M.

AU - Degortes, D.

AU - Forzan, M.

AU - Tenconi, E.

AU - Docampo, E.

AU - Escaramís, G.

AU - Jiménez-Murcia, S.

AU - Lissowska, J.

AU - Rajewski, A.

AU - Szeszenia-Dabrowska, N.

AU - Slopien, A.

AU - Hauser, J.

AU - Karhunen, L.

AU - Meulenbelt, I.

AU - Slagboom, P. E.

AU - Tortorella, A.

AU - Maj, M.

AU - Dedoussis, G.

AU - Dikeos, D.

AU - Gonidakis, F.

AU - Tziouvas, K.

AU - Tsitsika, A.

AU - Papezova, H.

AU - Slachtova, L.

AU - Martaskova, D.

AU - Kennedy, J. L.

AU - Levitan, R. D.

AU - Yilmaz, Z.

AU - Huemer, J.

AU - Koubek, D.

AU - Merl, E.

AU - Wagner, G.

AU - Lichtenstein, P.

AU - Breen, G.

AU - Cohen-Woods, S.

AU - Farmer, A.

AU - Mcguffin, P.

AU - Cichon, S.

AU - Giegling, I.

AU - Herms, S.

AU - Rujescu, D.

AU - Schreiber, S.

AU - Wichmann, H. E.

AU - Dina, C.

AU - Sladek, R.

AU - Soranzo, Nicole

AU - Julia, A.

AU - Marsal, S.

AU - Rabionet, R.

AU - Gaborieau, V.

AU - Dick, D. M.

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AU - Anderson, Carl A.

AU - Mcginnis, Ralph

AU - Zeggini, Eleftheria

AU - Sambrook, Jennifer

AU - Stephens, Jonathan

AU - Ouwehand, Willem H.

AU - Mcardle, Wendy L.

AU - Ring, Susan M.

AU - Strachan, David P.

AU - Alexander, Graeme

AU - Bulik, Cynthia M.

AU - Collier, David A.

AU - Conlon, Peter J.

AU - Dominiczak, Anna

AU - Duncanson, Audrey

AU - Hill, Adrian

AU - Langford, Cordelia

AU - Lord, Graham

AU - Maxwell, Alexander P.

AU - Morgan, Linda

AU - Sandford, Richard N.

AU - Sheerin, Neil

AU - Vannberg, Fredrik O.

AU - Blackburn, Hannah

AU - Chen, Wei-Min

AU - Edkins, Sarah

AU - Gillman, Mathew

AU - Gray, Emma

AU - Hunt, Sarah E.

AU - Onengut-Gumuscu, Suna

AU - Potter, Simon

AU - Rich, Stephen S.

AU - Simpkin, Douglas

AU - Whittaker, Pamela

AU - Estivill, X.

AU - Hinney, A.

AU - Sullivan, P. F.

PY - 2014

Y1 - 2014

N2 - 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.Molecular Psychiatry advance online publication, 11 February 2014; doi:10.1038/mp.2013.187.

AB - 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.Molecular Psychiatry advance online publication, 11 February 2014; doi:10.1038/mp.2013.187.

KW - Anorexia

KW - GWAS

KW - Anorexia

KW - GWAS

UR - http://hdl.handle.net/10807/53882

U2 - 10.1038/mp.2013.187

DO - 10.1038/mp.2013.187

M3 - Article

SP - N/A-N/A

JO - Molecular Psychiatry

JF - Molecular Psychiatry

SN - 1359-4184

ER -

A genome-wide association study of anorexia nervosa

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