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Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

Authors
Douglas Ruderfer,Stephan Ripke
Andrew McQuillin,James Boocock,Eli Stahl,Jennifer Pavlides,Niamh Mullins,Alexander Charney,Anil Ori,Loes Loohuis,Enrico Domenici,Arianna Florio,Sergi Papiol,Jánoš Kálmán,Vassily Trubetskoy,Rolf Adolfsson,Ingrid Agartz,Esben Agerbo,Huda Akil,Diego Albani,Margot Albus,Martin Alda,Madeline Alexander,Ney Alliey‐Rodriguez,Thomas Als,Farooq Amin,Adebayo Anjorin,Maria Arranz,Swapnil Awasthi,Silviu‐Alin Bacanu,Judith Badner,Marie Bækvad‐Hansen,Steven Bakker,Gavin Band,Jack Barchas,Inês Barroso,Nick Bass,Michael Bauer,Bernhard Baune,Martin Begemann,Céline Bellenguez,Richard Belliveau,Frank Bellivier,Stephan Bender,Judit Bene,Sarah Bergen,Wade Berrettini,Elizabeth Bevilacqua,Joanna Biernacka,Tim Bigdeli,Donald Black,Hannah Blackburn,Jenefer Blackwell,Douglas Blackwood,Carsten Pedersen,Michael Boehnke,Marco Boks,Anders Børglum,Elvira Bramon,Gerome Breen,Matthew Brown,Richard Bruggeman,Nancy Buccola,Randy Buckner,Monika Budde,Brendan Bulik-Sullivan,Suzannah Bumpstead,William Bunney,Margit Burmeister,Joseph Buxbaum,Jonas Bybjerg‐Grauholm,William Byerley,Wiepke Cahn,Guiqing Cai,Murray Cairns,Dominique Campion,Rita Cantor,Vaughan Carr,Noa Carrera,Juan Casas,Miquel Casas,Stanley Catts,Pablo Cervantes,Kimberley Chambert,Raymond Chan,Eric Chen,Ronald Chen,Wei Cheng,Eric Cheung,Siow Chong,Toni‐Kim Clarke,C. Cloninger,David Cohen,Nadine Cohen,Jonathan Coleman,David Collier,Paul Cormican,William Coryell,Nicholas Craddock,David Craig,János Kálmán,Brendan Bulik‐Sullivan,M. Ikram,Carrie Bearden,Miguel Casas,Nick Craddock,James Kennedy
+105 authors
,Joel Hirschhorn
Journal
Published
Jun 1, 2018
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Abstract

Schizophrenia and bipolar disorder are two distinct diagnoses that share symptomology. Understanding the genetic factors contributing to the shared and disorder-specific symptoms will be crucial for improving diagnosis and treatment. In genetic data consisting of 53,555 cases (20,129 bipolar disorder [BD], 33,426 schizophrenia [SCZ]) and 54,065 controls, we identified 114 genome-wide significant loci implicating synaptic and neuronal pathways shared between disorders. Comparing SCZ to BD (23,585 SCZ, 15,270 BD) identified four genomic regions including one with disorder-independent causal variants and potassium ion response genes as contributing to differences in biology between the disorders. Polygenic risk score (PRS) analyses identified several significant correlations within case-only phenotypes including SCZ PRS with psychotic features and age of onset in BD. For the first time, we discover specific loci that distinguish between BD and SCZ and identify polygenic components underlying multiple symptom dimensions. These results point to the utility of genetics to inform symptomology and potential treatment.

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