Forstner, A. J., Hecker, J., Hofmann, A., Maaser, A., Reinbold, C. S., Mühleisen, T. W., Leber, M., Strohmaier, J., Degenhardt, F., Treutlein, J., Mattheisen, M., Schumacher, J., Streit, F., Meier, S., Herms, S., Hoffmann, P., Lacour, A., Witt, S. H., Reif, A., ... Nöthen, M. M. (2017). Identification of shared risk loci and pathways for bipolar disorder and schizophrenia. PLoS One, 12(2), Article e0171595. https://doi.org/10.1371/journal.pone.0171595
Forstner, AJ, Hecker, J, Hofmann, A, Maaser, A, Reinbold, CS, Mühleisen, TW, Leber, M, Strohmaier, J, Degenhardt, F, Treutlein, J, Mattheisen, M, Schumacher, J, Streit, F, Meier, S, Herms, S, Hoffmann, P, Lacour, A, Witt, SH, Reif, A, Müller-Myhsok, B, Lucae, S, Maier, W, Schwarz, M, Vedder, H, Kammerer-Ciernioch, J, Pfennig, A, Bauer, M, Hautzinger, M, Moebus, S, Schenk, LM, Fischer, SB, Sivalingam, S, Czerski, PM, Hauser, J, Lissowska, J, Szeszenia-Dabrowska, N, Brennan, P, McKay, JD, Wright, A, Mitchell, PB, Fullerton, JM, Schofield, PR, Montgomery, GW, Medland, SE, Gordon, SD, Martin, NG, Krasnov, V, Chuchalin, A, Babadjanova, G, Pantelejeva, G, Abramova, LI, Tiganov, AS, Polonikov, A, Khusnutdinova, E, Alda, M, Cruceanu, C, Rouleau, GA, Turecki, G, Laprise, C, Rivas, F, Mayoral, F, Kogevinas, M, Grigoroiu-Serbanescu, M, Becker, T, Schulze, TG, Rietschel, M, Cichon, S, Fier, H & Nöthen, MM 2017, 'Identification of shared risk loci and pathways for bipolar disorder and schizophrenia', PLoS One, vol. 12, no. 2, e0171595. https://doi.org/10.1371/journal.pone.0171595
@article{c365809dbf724be09a6b627c2db3d9ab,
title = "Identification of shared risk loci and pathways for bipolar disorder and schizophrenia",
abstract = "Bipolar disorder (BD) is a highly heritable neuropsychiatric disease characterized by recurrent episodes of mania and depression. BD shows substantial clinical and genetic overlap with other psychiatric disorders, in particular schizophrenia (SCZ). The genes underlying this etiological overlap remain largely unknown. A recent SCZ genome wide association study (GWAS) by the Psychiatric Genomics Consortium identified 128 independent genome-wide significant single nucleotide polymorphisms (SNPs). The present study investigated whether these SCZ-associated SNPs also contribute to BD development through the performance of association testing in a large BD GWAS dataset (9747 patients, 14278 controls). After re-imputation and correction for sample overlap, 22 of 107 investigated SCZ SNPs showed nominal association with BD. The number of shared SCZ-BD SNPs was significantly higher than expected (p = 1.46x10-8 ). This provides further evidence that SCZassociated loci contribute to the development of BD. Two SNPs remained significant after Bonferroni correction. The most strongly associated SNP was located near TRANK1, which is a reported genome-wide significant risk gene for BD. Pathway analyses for all shared SCZ-BD SNPs revealed 25 nominally enriched gene-sets, which showed partial overlap in terms of the underlying genes. The enriched gene-sets included calcium- and glutamate signaling, neuropathic pain signaling in dorsal horn neurons, and calmodulin binding. The present data provide further insights into shared risk loci and disease-associated pathways for BD and SCZ. This may suggest new research directions for the treatment and prevention of these two major psychiatric disorders.",
author = "Forstner, {Andreas J.} and Julian Hecker and Andrea Hofmann and Anna Maaser and Reinbold, {C{\'e}line S.} and M{\"u}hleisen, {Thomas W.} and Markus Leber and Jana Strohmaier and Franziska Degenhardt and Jens Treutlein and Manuel Mattheisen and Johannes Schumacher and Fabian Streit and Sandra Meier and Stefan Herms and Per Hoffmann and Andr{\'e} Lacour and Witt, {Stephanie H.} and Andreas Reif and Bertram M{\"u}ller-Myhsok and Susanne Lucae and Wolfgang Maier and Markus Schwarz and Helmut Vedder and Jutta Kammerer-Ciernioch and Andrea Pfennig and Michael Bauer and Martin Hautzinger and Susanne Moebus and Schenk, {Lorena M.} and Fischer, {Sascha B.} and Sugirthan Sivalingam and Czerski, {Piotr M.} and Joanna Hauser and Jolanta Lissowska and Neonila Szeszenia-Dabrowska and Paul Brennan and McKay, {James D.} and Adam Wright and Mitchell, {Philip B.} and Fullerton, {Janice M.} and Schofield, {Peter R.} and Montgomery, {Grant W.} and Medland, {Sarah E.} and Gordon, {Scott D.} and Martin, {Nicholas G.} and Valery Krasnov and Alexander Chuchalin and Gulja Babadjanova and Galina Pantelejeva and Abramova, {Lilia I.} and Tiganov, {Alexander S.} and Alexey Polonikov and Elza Khusnutdinova and Martin Alda and Cristiana Cruceanu and Rouleau, {Guy A.} and Gustavo Turecki and Catherine Laprise and Fabio Rivas and Fermin Mayoral and Manolis Kogevinas and Maria Grigoroiu-Serbanescu and Tim Becker and Schulze, {Thomas G.} and Marcella Rietschel and Sven Cichon and Heide Fier and N{\"o}then, {Markus M.}",
note = "Publisher Copyright: {\textcopyright} 2017 Forstner et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.",
year = "2017",
month = feb,
doi = "10.1371/journal.pone.0171595",
language = "English",
volume = "12",
journal = "PLoS One",
issn = "1932-6203",
publisher = "Public Library of Science",
number = "2",
}
TY - JOUR
T1 - Identification of shared risk loci and pathways for bipolar disorder and schizophrenia
AU - Forstner, Andreas J.
AU - Hecker, Julian
AU - Hofmann, Andrea
AU - Maaser, Anna
AU - Reinbold, Céline S.
AU - Mühleisen, Thomas W.
AU - Leber, Markus
AU - Strohmaier, Jana
AU - Degenhardt, Franziska
AU - Treutlein, Jens
AU - Mattheisen, Manuel
AU - Schumacher, Johannes
AU - Streit, Fabian
AU - Meier, Sandra
AU - Herms, Stefan
AU - Hoffmann, Per
AU - Lacour, André
AU - Witt, Stephanie H.
AU - Reif, Andreas
AU - Müller-Myhsok, Bertram
AU - Lucae, Susanne
AU - Maier, Wolfgang
AU - Schwarz, Markus
AU - Vedder, Helmut
AU - Kammerer-Ciernioch, Jutta
AU - Pfennig, Andrea
AU - Bauer, Michael
AU - Hautzinger, Martin
AU - Moebus, Susanne
AU - Schenk, Lorena M.
AU - Fischer, Sascha B.
AU - Sivalingam, Sugirthan
AU - Czerski, Piotr M.
AU - Hauser, Joanna
AU - Lissowska, Jolanta
AU - Szeszenia-Dabrowska, Neonila
AU - Brennan, Paul
AU - McKay, James D.
AU - Wright, Adam
AU - Mitchell, Philip B.
AU - Fullerton, Janice M.
AU - Schofield, Peter R.
AU - Montgomery, Grant W.
AU - Medland, Sarah E.
AU - Gordon, Scott D.
AU - Martin, Nicholas G.
AU - Krasnov, Valery
AU - Chuchalin, Alexander
AU - Babadjanova, Gulja
AU - Pantelejeva, Galina
AU - Abramova, Lilia I.
AU - Tiganov, Alexander S.
AU - Polonikov, Alexey
AU - Khusnutdinova, Elza
AU - Alda, Martin
AU - Cruceanu, Cristiana
AU - Rouleau, Guy A.
AU - Turecki, Gustavo
AU - Laprise, Catherine
AU - Rivas, Fabio
AU - Mayoral, Fermin
AU - Kogevinas, Manolis
AU - Grigoroiu-Serbanescu, Maria
AU - Becker, Tim
AU - Schulze, Thomas G.
AU - Rietschel, Marcella
AU - Cichon, Sven
AU - Fier, Heide
AU - Nöthen, Markus M.
N1 - Publisher Copyright:
© 2017 Forstner et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
PY - 2017/2
Y1 - 2017/2
N2 - Bipolar disorder (BD) is a highly heritable neuropsychiatric disease characterized by recurrent episodes of mania and depression. BD shows substantial clinical and genetic overlap with other psychiatric disorders, in particular schizophrenia (SCZ). The genes underlying this etiological overlap remain largely unknown. A recent SCZ genome wide association study (GWAS) by the Psychiatric Genomics Consortium identified 128 independent genome-wide significant single nucleotide polymorphisms (SNPs). The present study investigated whether these SCZ-associated SNPs also contribute to BD development through the performance of association testing in a large BD GWAS dataset (9747 patients, 14278 controls). After re-imputation and correction for sample overlap, 22 of 107 investigated SCZ SNPs showed nominal association with BD. The number of shared SCZ-BD SNPs was significantly higher than expected (p = 1.46x10-8 ). This provides further evidence that SCZassociated loci contribute to the development of BD. Two SNPs remained significant after Bonferroni correction. The most strongly associated SNP was located near TRANK1, which is a reported genome-wide significant risk gene for BD. Pathway analyses for all shared SCZ-BD SNPs revealed 25 nominally enriched gene-sets, which showed partial overlap in terms of the underlying genes. The enriched gene-sets included calcium- and glutamate signaling, neuropathic pain signaling in dorsal horn neurons, and calmodulin binding. The present data provide further insights into shared risk loci and disease-associated pathways for BD and SCZ. This may suggest new research directions for the treatment and prevention of these two major psychiatric disorders.
AB - Bipolar disorder (BD) is a highly heritable neuropsychiatric disease characterized by recurrent episodes of mania and depression. BD shows substantial clinical and genetic overlap with other psychiatric disorders, in particular schizophrenia (SCZ). The genes underlying this etiological overlap remain largely unknown. A recent SCZ genome wide association study (GWAS) by the Psychiatric Genomics Consortium identified 128 independent genome-wide significant single nucleotide polymorphisms (SNPs). The present study investigated whether these SCZ-associated SNPs also contribute to BD development through the performance of association testing in a large BD GWAS dataset (9747 patients, 14278 controls). After re-imputation and correction for sample overlap, 22 of 107 investigated SCZ SNPs showed nominal association with BD. The number of shared SCZ-BD SNPs was significantly higher than expected (p = 1.46x10-8 ). This provides further evidence that SCZassociated loci contribute to the development of BD. Two SNPs remained significant after Bonferroni correction. The most strongly associated SNP was located near TRANK1, which is a reported genome-wide significant risk gene for BD. Pathway analyses for all shared SCZ-BD SNPs revealed 25 nominally enriched gene-sets, which showed partial overlap in terms of the underlying genes. The enriched gene-sets included calcium- and glutamate signaling, neuropathic pain signaling in dorsal horn neurons, and calmodulin binding. The present data provide further insights into shared risk loci and disease-associated pathways for BD and SCZ. This may suggest new research directions for the treatment and prevention of these two major psychiatric disorders.
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U2 - 10.1371/journal.pone.0171595
DO - 10.1371/journal.pone.0171595
M3 - Article
C2 - 28166306
AN - SCOPUS:85011636383
SN - 1932-6203
VL - 12
JO - PLoS One
JF - PLoS One
IS - 2
M1 - e0171595
ER -