Common variant at 16p11.2 conferring risk of psychosis

S. Steinberg; S. De Jong; M. Mattheisen; J.C. Costas; D. Demontis; S. Jamain; O.P.H. Pietiläinen; K. Lin; S. Papiol; J. Huttenlocher; E. Sigurdsson; E. Vassos; I. Giegling; R. Breuer; G. Fraser; N.P. Walker; I. Melle; S. Djurović; I.A. Agartz; A. Tuulio-Henriksson; J.M. Suvisaari; J.K. Lönnqvist; T. Paunio; L. Olsen; T.F. Hansen; A. Ingason; M. Pirinen; E. Strengman; D.M. Hougaard; T.F. Örntoft; M. Didriksen; M.V. Hollegaard; M. Nordentoft; L.I. Abramova; V.G. Kaleda; M. Arrojo; J.C.M. Sanjuán; C. Arango; B. Étain; F. Bellivier; A. Méary; F. Schürhoff; A. Szöke; M. Ribolsi; V. Magni; A. Siracusano; S. Sperling; M.J. Rossner; C.S. Christiansen; L.A.L.M.B. Kiemeney; B. Franke; L.H. Van Den Berg; J.H. Veldink; S.R. Curran; P.F. Bolton; M. Poot; W.G. Staal; K. Rehnström; H. Kilpinen; C.M. Freitag; J.F.W. Meyer; P. Magnússon; E. Sæmundsen; I. Martsenkovsky; I. Bikshaieva; I. Martsenkovska; O. Vashchenko; M. Raleva; K. Paketchieva; B. Stefanovski; N. Durmishi; M.M. Pejović-Milovančević; D. Lečić-Toševski; T. Silagadze; N. Naneishvili; N. Mikeladze; S.A. Surguladze; J.B. Vincent; A.E. Farmer; P.B. Mitchell; A. Wright; P.R. Schofield; J.M. Fullerton; G.W. Montgomery; N.G. Martin; I.A. Rubino; R. Van Winkel; G.R.L. Kenis; M.D.F. De Hert; J.M. Réthelyi; I. Bitter; L.T. Terenius; E.G. Jönsson; S.C. Bakker; J. Van Os; Assen Jablensky; M. Leboyer; E. Bramon; J. Powell; R.M. Murray; A.P. Corvin; M. Gill; D.W. Morris; F.A. O\'Neill; K.S. Kendler; B.P. Riley; N.J. Craddock; M.J. Owen; M.C. O'Donovan; U. Thorsteinsdóttir; A. Kong; H. Ehrenreich; A.M. Carracedo; V.E. Golimbet; O.A. Andreassen; A.D. Børglum; O.N. Mors; P.B.O. Mortensen; T.M. Werge; R.A. Ophoff; M.M. Nöthen; M. Rietschel; S. Cichon; M. Ruggeri; S. Tosato; A. Palotie; D.M. St. Clair; D.A.N. Rujescu; D.A. Collier; H. Stefánsson; K. Stefánsson

doi:10.1038/mp.2012.157

Common variant at 16p11.2 conferring risk of psychosis

S. Steinberg, S. De Jong, M. Mattheisen, J.C. Costas, D. Demontis, S. Jamain, O.P.H. Pietiläinen, K. Lin, S. Papiol, J. Huttenlocher, E. Sigurdsson, E. Vassos, I. Giegling, R. Breuer, G. Fraser, N.P. Walker, I. Melle, S. Djurović, I.A. Agartz, A. Tuulio-HenrikssonJ.M. Suvisaari, J.K. Lönnqvist, T. Paunio, L. Olsen, T.F. Hansen, A. Ingason, M. Pirinen, E. Strengman, D.M. Hougaard, T.F. Örntoft, M. Didriksen, M.V. Hollegaard, M. Nordentoft, L.I. Abramova, V.G. Kaleda, M. Arrojo, J.C.M. Sanjuán, C. Arango, B. Étain, F. Bellivier, A. Méary, F. Schürhoff, A. Szöke, M. Ribolsi, V. Magni, A. Siracusano, S. Sperling, M.J. Rossner, C.S. Christiansen, L.A.L.M.B. Kiemeney, B. Franke, L.H. Van Den Berg, J.H. Veldink, S.R. Curran, P.F. Bolton, M. Poot, W.G. Staal, K. Rehnström, H. Kilpinen, C.M. Freitag, J.F.W. Meyer, P. Magnússon, E. Sæmundsen, I. Martsenkovsky, I. Bikshaieva, I. Martsenkovska, O. Vashchenko, M. Raleva, K. Paketchieva, B. Stefanovski, N. Durmishi, M.M. Pejović-Milovančević, D. Lečić-Toševski, T. Silagadze, N. Naneishvili, N. Mikeladze, S.A. Surguladze, J.B. Vincent, A.E. Farmer, P.B. Mitchell, A. Wright, P.R. Schofield, J.M. Fullerton, G.W. Montgomery, N.G. Martin, I.A. Rubino, R. Van Winkel, G.R.L. Kenis, M.D.F. De Hert, J.M. Réthelyi, I. Bitter, L.T. Terenius, E.G. Jönsson, S.C. Bakker, J. Van Os, Assen Jablensky, M. Leboyer, E. Bramon, J. Powell, R.M. Murray, A.P. Corvin, M. Gill, D.W. Morris, F.A. O\'Neill, K.S. Kendler, B.P. Riley, N.J. Craddock, M.J. Owen, M.C. O'Donovan, U. Thorsteinsdóttir, A. Kong, H. Ehrenreich, A.M. Carracedo, V.E. Golimbet, O.A. Andreassen, A.D. Børglum, O.N. Mors, P.B.O. Mortensen, T.M. Werge, R.A. Ophoff, M.M. Nöthen, M. Rietschel, S. Cichon, M. Ruggeri, S. Tosato, A. Palotie, D.M. St. Clair, D.A.N. Rujescu, D.A. Collier, H. Stefánsson, K. Stefánsson

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Abstract

Epidemiological and genetic data support the notion that schizophrenia and bipolar disorder share genetic risk factors. In our previous genome-wide association study, meta-analysis and follow-up (totaling as many as 18 206 cases and 42 536 controls), we identified four loci showing genome-wide significant association with schizophrenia. Here we consider a mixed schizophrenia and bipolar disorder (psychosis) phenotype (addition of 7469 bipolar disorder cases, 1535 schizophrenia cases, 333 other psychosis cases, 808 unaffected family members and 46 160 controls). Combined analysis reveals a novel variant at 16p11.2 showing genome-wide significant association (rs4583255T; odds ratio=1.08; P=6.6 × 10 -11). The new variant is located within a 593-kb region that substantially increases risk of psychosis when duplicated. In line with the association of the duplication with reduced body mass index (BMI), rs4583255T is also associated with lower BMI (P=0.0039 in the public GIANT consortium data set; P=0.00047 in 22 651 additional Icelanders). © 2014 Macmillan Publishers Limited.

Original language	English
Pages (from-to)	108-114
Journal	Molecular Psychiatry
Volume	19
Issue number	1
DOIs	https://doi.org/10.1038/mp.2012.157
Publication status	Published - 2014

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10.1038/mp.2012.157

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Steinberg, S., De Jong, S., Mattheisen, M., Costas, J. C., Demontis, D., Jamain, S., Pietiläinen, O. P. H., Lin, K., Papiol, S., Huttenlocher, J., Sigurdsson, E., Vassos, E., Giegling, I., Breuer, R., Fraser, G., Walker, N. P., Melle, I., Djurović, S., Agartz, I. A., ... Stefánsson, K. (2014). Common variant at 16p11.2 conferring risk of psychosis. Molecular Psychiatry, 19(1), 108-114. https://doi.org/10.1038/mp.2012.157

@article{e32508a9815a4ff89d699a35df945e6c,

title = "Common variant at 16p11.2 conferring risk of psychosis",

abstract = "Epidemiological and genetic data support the notion that schizophrenia and bipolar disorder share genetic risk factors. In our previous genome-wide association study, meta-analysis and follow-up (totaling as many as 18 206 cases and 42 536 controls), we identified four loci showing genome-wide significant association with schizophrenia. Here we consider a mixed schizophrenia and bipolar disorder (psychosis) phenotype (addition of 7469 bipolar disorder cases, 1535 schizophrenia cases, 333 other psychosis cases, 808 unaffected family members and 46 160 controls). Combined analysis reveals a novel variant at 16p11.2 showing genome-wide significant association (rs4583255T; odds ratio=1.08; P=6.6 × 10 -11). The new variant is located within a 593-kb region that substantially increases risk of psychosis when duplicated. In line with the association of the duplication with reduced body mass index (BMI), rs4583255T is also associated with lower BMI (P=0.0039 in the public GIANT consortium data set; P=0.00047 in 22 651 additional Icelanders). {\textcopyright} 2014 Macmillan Publishers Limited.",

author = "S. Steinberg and {De Jong}, S. and M. Mattheisen and J.C. Costas and D. Demontis and S. Jamain and O.P.H. Pietil{\"a}inen and K. Lin and S. Papiol and J. Huttenlocher and E. Sigurdsson and E. Vassos and I. Giegling and R. Breuer and G. Fraser and N.P. Walker and I. Melle and S. Djurovi{\'c} and I.A. Agartz and A. Tuulio-Henriksson and J.M. Suvisaari and J.K. L{\"o}nnqvist and T. Paunio and L. Olsen and T.F. Hansen and A. Ingason and M. Pirinen and E. Strengman and D.M. Hougaard and T.F. {\"O}rntoft and M. Didriksen and M.V. Hollegaard and M. Nordentoft and L.I. Abramova and V.G. Kaleda and M. Arrojo and J.C.M. Sanju{\'a}n and C. Arango and B. {\'E}tain and F. Bellivier and A. M{\'e}ary and F. Sch{\"u}rhoff and A. Sz{\"o}ke and M. Ribolsi and V. Magni and A. Siracusano and S. Sperling and M.J. Rossner and C.S. Christiansen and L.A.L.M.B. Kiemeney and B. Franke and {Van Den Berg}, L.H. and J.H. Veldink and S.R. Curran and P.F. Bolton and M. Poot and W.G. Staal and K. Rehnstr{\"o}m and H. Kilpinen and C.M. Freitag and J.F.W. Meyer and P. Magn{\'u}sson and E. S{\ae}mundsen and I. Martsenkovsky and I. Bikshaieva and I. Martsenkovska and O. Vashchenko and M. Raleva and K. Paketchieva and B. Stefanovski and N. Durmishi and M.M. Pejovi{\'c}-Milovan{\v c}evi{\'c} and D. Le{\v c}i{\'c}-To{\v s}evski and T. Silagadze and N. Naneishvili and N. Mikeladze and S.A. Surguladze and J.B. Vincent and A.E. Farmer and P.B. Mitchell and A. Wright and P.R. Schofield and J.M. Fullerton and G.W. Montgomery and N.G. Martin and I.A. Rubino and {Van Winkel}, R. and G.R.L. Kenis and {De Hert}, M.D.F. and J.M. R{\'e}thelyi and I. Bitter and L.T. Terenius and E.G. J{\"o}nsson and S.C. Bakker and {Van Os}, J. and Assen Jablensky and M. Leboyer and E. Bramon and J. Powell and R.M. Murray and A.P. Corvin and M. Gill and D.W. Morris and F.A. O\'Neill and K.S. Kendler and B.P. Riley and N.J. Craddock and M.J. Owen and M.C. O'Donovan and U. Thorsteinsd{\'o}ttir and A. Kong and H. Ehrenreich and A.M. Carracedo and V.E. Golimbet and O.A. Andreassen and A.D. B{\o}rglum and O.N. Mors and P.B.O. Mortensen and T.M. Werge and R.A. Ophoff and M.M. N{\"o}then and M. Rietschel and S. Cichon and M. Ruggeri and S. Tosato and A. Palotie and {St. Clair}, D.M. and D.A.N. Rujescu and D.A. Collier and H. Stef{\'a}nsson and K. Stef{\'a}nsson",

year = "2014",

doi = "10.1038/mp.2012.157",

language = "English",

volume = "19",

pages = "108--114",

journal = "Molecular Psychiatry",

issn = "1359-4184",

publisher = "Nature Publishing Group - Macmillan Publishers",

number = "1",

}

Steinberg, S, De Jong, S, Mattheisen, M, Costas, JC, Demontis, D, Jamain, S, Pietiläinen, OPH, Lin, K, Papiol, S, Huttenlocher, J, Sigurdsson, E, Vassos, E, Giegling, I, Breuer, R, Fraser, G, Walker, NP, Melle, I, Djurović, S, Agartz, IA, Tuulio-Henriksson, A, Suvisaari, JM, Lönnqvist, JK, Paunio, T, Olsen, L, Hansen, TF, Ingason, A, Pirinen, M, Strengman, E, Hougaard, DM, Örntoft, TF, Didriksen, M, Hollegaard, MV, Nordentoft, M, Abramova, LI, Kaleda, VG, Arrojo, M, Sanjuán, JCM, Arango, C, Étain, B, Bellivier, F, Méary, A, Schürhoff, F, Szöke, A, Ribolsi, M, Magni, V, Siracusano, A, Sperling, S, Rossner, MJ, Christiansen, CS, Kiemeney, LALMB, Franke, B, Van Den Berg, LH, Veldink, JH, Curran, SR, Bolton, PF, Poot, M, Staal, WG, Rehnström, K, Kilpinen, H, Freitag, CM, Meyer, JFW, Magnússon, P, Sæmundsen, E, Martsenkovsky, I, Bikshaieva, I, Martsenkovska, I, Vashchenko, O, Raleva, M, Paketchieva, K, Stefanovski, B, Durmishi, N, Pejović-Milovančević, MM, Lečić-Toševski, D, Silagadze, T, Naneishvili, N, Mikeladze, N, Surguladze, SA, Vincent, JB, Farmer, AE, Mitchell, PB, Wright, A, Schofield, PR, Fullerton, JM, Montgomery, GW, Martin, NG, Rubino, IA, Van Winkel, R, Kenis, GRL, De Hert, MDF, Réthelyi, JM, Bitter, I, Terenius, LT, Jönsson, EG, Bakker, SC, Van Os, J, Jablensky, A, Leboyer, M, Bramon, E, Powell, J, Murray, RM, Corvin, AP, Gill, M, Morris, DW, O\'Neill, FA, Kendler, KS, Riley, BP, Craddock, NJ, Owen, MJ, O'Donovan, MC, Thorsteinsdóttir, U, Kong, A, Ehrenreich, H, Carracedo, AM, Golimbet, VE, Andreassen, OA, Børglum, AD, Mors, ON, Mortensen, PBO, Werge, TM, Ophoff, RA, Nöthen, MM, Rietschel, M, Cichon, S, Ruggeri, M, Tosato, S, Palotie, A, St. Clair, DM, Rujescu, DAN, Collier, DA, Stefánsson, H & Stefánsson, K 2014, 'Common variant at 16p11.2 conferring risk of psychosis', Molecular Psychiatry, vol. 19, no. 1, pp. 108-114. https://doi.org/10.1038/mp.2012.157

TY - JOUR

T1 - Common variant at 16p11.2 conferring risk of psychosis

AU - Steinberg, S.

AU - De Jong, S.

AU - Mattheisen, M.

AU - Costas, J.C.

AU - Demontis, D.

AU - Jamain, S.

AU - Pietiläinen, O.P.H.

AU - Lin, K.

AU - Papiol, S.

AU - Huttenlocher, J.

AU - Sigurdsson, E.

AU - Vassos, E.

AU - Giegling, I.

AU - Breuer, R.

AU - Fraser, G.

AU - Walker, N.P.

AU - Melle, I.

AU - Djurović, S.

AU - Agartz, I.A.

AU - Tuulio-Henriksson, A.

AU - Suvisaari, J.M.

AU - Lönnqvist, J.K.

AU - Paunio, T.

AU - Olsen, L.

AU - Hansen, T.F.

AU - Ingason, A.

AU - Pirinen, M.

AU - Strengman, E.

AU - Hougaard, D.M.

AU - Örntoft, T.F.

AU - Didriksen, M.

AU - Hollegaard, M.V.

AU - Nordentoft, M.

AU - Abramova, L.I.

AU - Kaleda, V.G.

AU - Arrojo, M.

AU - Sanjuán, J.C.M.

AU - Arango, C.

AU - Étain, B.

AU - Bellivier, F.

AU - Méary, A.

AU - Schürhoff, F.

AU - Szöke, A.

AU - Ribolsi, M.

AU - Magni, V.

AU - Siracusano, A.

AU - Sperling, S.

AU - Rossner, M.J.

AU - Christiansen, C.S.

AU - Kiemeney, L.A.L.M.B.

AU - Franke, B.

AU - Van Den Berg, L.H.

AU - Veldink, J.H.

AU - Curran, S.R.

AU - Bolton, P.F.

AU - Poot, M.

AU - Staal, W.G.

AU - Rehnström, K.

AU - Kilpinen, H.

AU - Freitag, C.M.

AU - Meyer, J.F.W.

AU - Magnússon, P.

AU - Sæmundsen, E.

AU - Martsenkovsky, I.

AU - Bikshaieva, I.

AU - Martsenkovska, I.

AU - Vashchenko, O.

AU - Raleva, M.

AU - Paketchieva, K.

AU - Stefanovski, B.

AU - Durmishi, N.

AU - Pejović-Milovančević, M.M.

AU - Lečić-Toševski, D.

AU - Silagadze, T.

AU - Naneishvili, N.

AU - Mikeladze, N.

AU - Surguladze, S.A.

AU - Vincent, J.B.

AU - Farmer, A.E.

AU - Mitchell, P.B.

AU - Wright, A.

AU - Schofield, P.R.

AU - Fullerton, J.M.

AU - Montgomery, G.W.

AU - Martin, N.G.

AU - Rubino, I.A.

AU - Van Winkel, R.

AU - Kenis, G.R.L.

AU - De Hert, M.D.F.

AU - Réthelyi, J.M.

AU - Bitter, I.

AU - Terenius, L.T.

AU - Jönsson, E.G.

AU - Bakker, S.C.

AU - Van Os, J.

AU - Jablensky, Assen

AU - Leboyer, M.

AU - Bramon, E.

AU - Powell, J.

AU - Murray, R.M.

AU - Corvin, A.P.

AU - Gill, M.

AU - Morris, D.W.

AU - O\'Neill, F.A.

AU - Kendler, K.S.

AU - Riley, B.P.

AU - Craddock, N.J.

AU - Owen, M.J.

AU - O'Donovan, M.C.

AU - Thorsteinsdóttir, U.

AU - Kong, A.

AU - Ehrenreich, H.

AU - Carracedo, A.M.

AU - Golimbet, V.E.

AU - Andreassen, O.A.

AU - Børglum, A.D.

AU - Mors, O.N.

AU - Mortensen, P.B.O.

AU - Werge, T.M.

AU - Ophoff, R.A.

AU - Nöthen, M.M.

AU - Rietschel, M.

AU - Cichon, S.

AU - Ruggeri, M.

AU - Tosato, S.

AU - Palotie, A.

AU - St. Clair, D.M.

AU - Rujescu, D.A.N.

AU - Collier, D.A.

AU - Stefánsson, H.

AU - Stefánsson, K.

PY - 2014

Y1 - 2014

N2 - Epidemiological and genetic data support the notion that schizophrenia and bipolar disorder share genetic risk factors. In our previous genome-wide association study, meta-analysis and follow-up (totaling as many as 18 206 cases and 42 536 controls), we identified four loci showing genome-wide significant association with schizophrenia. Here we consider a mixed schizophrenia and bipolar disorder (psychosis) phenotype (addition of 7469 bipolar disorder cases, 1535 schizophrenia cases, 333 other psychosis cases, 808 unaffected family members and 46 160 controls). Combined analysis reveals a novel variant at 16p11.2 showing genome-wide significant association (rs4583255T; odds ratio=1.08; P=6.6 × 10 -11). The new variant is located within a 593-kb region that substantially increases risk of psychosis when duplicated. In line with the association of the duplication with reduced body mass index (BMI), rs4583255T is also associated with lower BMI (P=0.0039 in the public GIANT consortium data set; P=0.00047 in 22 651 additional Icelanders). © 2014 Macmillan Publishers Limited.

AB - Epidemiological and genetic data support the notion that schizophrenia and bipolar disorder share genetic risk factors. In our previous genome-wide association study, meta-analysis and follow-up (totaling as many as 18 206 cases and 42 536 controls), we identified four loci showing genome-wide significant association with schizophrenia. Here we consider a mixed schizophrenia and bipolar disorder (psychosis) phenotype (addition of 7469 bipolar disorder cases, 1535 schizophrenia cases, 333 other psychosis cases, 808 unaffected family members and 46 160 controls). Combined analysis reveals a novel variant at 16p11.2 showing genome-wide significant association (rs4583255T; odds ratio=1.08; P=6.6 × 10 -11). The new variant is located within a 593-kb region that substantially increases risk of psychosis when duplicated. In line with the association of the duplication with reduced body mass index (BMI), rs4583255T is also associated with lower BMI (P=0.0039 in the public GIANT consortium data set; P=0.00047 in 22 651 additional Icelanders). © 2014 Macmillan Publishers Limited.

U2 - 10.1038/mp.2012.157

DO - 10.1038/mp.2012.157

M3 - Article

C2 - 23164818

SN - 1359-4184

VL - 19

SP - 108

EP - 114

JO - Molecular Psychiatry

JF - Molecular Psychiatry

IS - 1

ER -

Common variant at 16p11.2 conferring risk of psychosis

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