PGC Workgroups

Alzheimer's Disease Workgroup (ALZ)

Workgroup Chairs: Danielle Posthuma and Ole Andreassen

Coming soon! (updated 11/11/2016)

Coming Soon! (updated 11/11/2016)

Coming Soon! (updated 11/11/2016)

Anxiety Workgroup (ANX)

ANXgroup

Workgroup Chairs: Jürgen Deckert, Thalia Eley, John Hettema

After an initial meeting of the chairs at the WCPG 2016 in Jerusalem, the PGC Anxiety Workgroup became part of the PGC in 2017, with a kick-off meeting during WCPG 2017 in Orlando. We will have our first data freeze by the end of 2018 the initial analyses will focus on presence/absence of any anxiety disorder.

We plan to conduct genome-wide association studies (GWAS) based on statistically powerful samples of patients with anxiety disorders and healthy individuals with data on anxiety measures. Our long-term objective is to provide further insight into the pathophysiology and neurobiological underpinnings of anxiety disorders through the identification of genetic risk variants, leading to the development of novel treatments or biomarkers.

Our analyses will include GWAS in (i) categorical case-control samples (panic disorder, agoraphobia, general anxiety disorder, social phobia and specific phobia) , (ii) population based samples with dimensional anxiety measures (e.g. ASI, ACQ, GAD-7), with (iii) a special focus on the development of anxiety disorders through life span in child and adolescent cohorts with available follow-up data.

We welcome anyone who is interested to join us. For further information please contact us on pgcanx@kcl.ac.uk.


The Common Genetic Architecture of Anxiety Disorders; https://www.biorxiv.org/content/early/2017/10/16/203844

No ANX funders to report as this time. (updated 5/18/2017)

Attention Deficit Hyperactivity Disorders (ADHD)

Workgroup Chairs: Barbara Franke and Ben Neale

The ADHD workgroup was formed in 1998 with funding from a conference grant from the National Institute of Mental Health. We have been part of the PGC since its inception. During that time, our membership has grown to include 106 investigators from 29 institutions and 14 countries. Our group focuses on the study of ADHD and associated features in children and adults.

Our interdisciplinary membership includes graduate and postdoctoral trainees in psychiatric genetics as well as distinguished faculty in psychology, psychiatry, biostatistics, bioinformatics and genetics. Working together we have documented the existence of copy number variants and a polygenic background that mediate the risk for ADHD (please see Select Publications section below). Our current goals are to increase the number of ADHD samples with genomewide association data and to extend our work into genome/exome sequencing.

Past and ongoing work of the ADHD group is at: http://adhdnet.com/wp/. Please contact  for additional information on the PGC ADHD workgroup.

If you are a member of the ADHD workgroup and have questions about a specific analysis or if you are interested in joining an ongoing project, please contact the investigator leading that project.

Albayrak, Ö., Pütter, C., Volckmar, A.-L., Cichon, S., Hoffmann, P., Nöthen, M. M., … Psychiatric GWAS Consortium: ADHD Subgroup. (2013). Common obesity risk alleles in childhood attention-deficit/hyperactivity disorder. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: The Official Publication of the International Society of Psychiatric Genetics, 162B(4), 295–305. http://doi.org/10.1002/ajmg.b.32144

Cross-Disorder Group of the Psychiatric Genomics Consortium, Lee, S. H., Ripke, S., Neale, B. M., Faraone, S. V., Purcell, S. M., … Wray, N. R. (2013). Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nature Genetics, 45(9), 984–994. http://doi.org/10.1038/ng.2711

Elia, J., Glessner, J. T., Wang, K., Takahashi, N., Shtir, C. J., Hadley, D., … Hakonarson, H. (2012). Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. Nature Genetics, 44(1), 78–84. http://doi.org/10.1038/ng.1013

Gao, Q., Liu, L., Chen, Y., Li, H., Yang, L., Wang, Y., & Qian, Q. (2015). Synaptosome-related (SNARE) genes and their interactions contribute to the susceptibility and working memory of attention-deficit/hyperactivity disorder in males. Progress in Neuro-Psychopharmacology & Biological Psychiatry, 57, 132–139. http://doi.org/10.1016/j.pnpbp.2014.11.001

Gao, Q., Liu, L., Li, H.-M., Tang, Y.-L., Wu, Z.-M., Chen, Y., … Qian, Q.-J. (2015). Interactions between MAOA and SYP polymorphisms were associated with symptoms of attention-deficit/hyperactivity disorder in Chinese Han subjects. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: The Official Publication of the International Society of Psychiatric Genetics, 168B(1), 45–53. http://doi.org/10.1002/ajmg.b.32273

Groen-Blokhuis, M. M., Middeldorp, C. M., Kan, K.-J., Abdellaoui, A., van Beijsterveldt, C. E. M., Ehli, E. A., … Boomsma, D. I. (2014). Attention-deficit/hyperactivity disorder polygenic risk scores predict attention problems in a population-based sample of children. Journal of the American Academy of Child and Adolescent Psychiatry, 53(10), 1123–1129.e6. http://doi.org/10.1016/j.jaac.2014.06.014

Hamshere, M. L., Langley, K., Martin, J., Agha, S. S., Stergiakouli, E., Anney, R. J. L., … Thapar, A. (2013). High loading of polygenic risk for ADHD in children with comorbid aggression. The American Journal of Psychiatry, 170(8), 909–916. http://doi.org/10.1176/appi.ajp.2013.12081129

Hart, A. B., Gamazon, E. R., Engelhardt, B. E., Sklar, P., Kähler, A. K., Hultman, C. M., … Palmer, A. A. (2014). Genetic variation associated with euphorigenic effects of d-amphetamine is associated with diminished risk for schizophrenia and attention deficit hyperactivity disorder. Proceedings of the National Academy of Sciences of the United States of America, 111(16), 5968–5973. http://doi.org/10.1073/pnas.1318810111

Hinney, A., Scherag, A., Jarick, I., Albayrak, Ö., Pütter, C., Pechlivanis, S., … Psychiatric GWAS Consortium: ADHD subgroup. (2011). Genome-wide association study in German patients with attention deficit/hyperactivity disorder. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: The Official Publication of the International Society of Psychiatric Genetics, 156B(8), 888–897. http://doi.org/10.1002/ajmg.b.31246

Jarick, I., Volckmar, A.-L., Pütter, C., Pechlivanis, S., Nguyen, T. T., Dauvermann, M. R., … Hinney, A. (2014). Genome-wide analysis of rare copy number variations reveals PARK2 as a candidate gene for attention-deficit/hyperactivity disorder. Molecular Psychiatry, 19(1), 115–121. http://doi.org/10.1038/mp.2012.161

Kim, S. M., Kim, Y. A., Kim, S. Y., Kim, S. H., Cho, K. W., & Kim, S. Z. (2011). Presence of dendroaspis natriuretic peptide and its binding to NPR-A receptor in rabbit kidney. Regulatory Peptides, 167(1), 42–49. http://doi.org/10.1016/j.regpep.2010.11.010

Klein, M., van der Voet, M., Harich, B., van Hulzen, K. J. E., Onnink, A. M. H., Hoogman, M., … Psychiatric Genomics Consortium ADHD Working Group. (2015). Converging evidence does not support GIT1 as an ADHD risk gene. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: The Official Publication of the International Society of Psychiatric Genetics. http://doi.org/10.1002/ajmg.b.32327

Martin, J., Cooper, M., Hamshere, M. L., Pocklington, A., Scherer, S. W., Kent, L., … Holmans, P. (2014). Biological overlap of attention-deficit/hyperactivity disorder and autism spectrum disorder: evidence from copy number variants. Journal of the American Academy of Child and Adolescent Psychiatry, 53(7), 761–770.e26. http://doi.org/10.1016/j.jaac.2014.03.004

Martin, J., O’Donovan, M. C., Thapar, A., Langley, K., & Williams, N. (2015). The relative contribution of common and rare genetic variants to ADHD. Translational Psychiatry, 5, e506. http://doi.org/10.1038/tp.2015.5

Mick, E., Todorov, A., Smalley, S., Hu, X., Loo, S., Todd, R. D., Faraone, S. V. (2010). Family-based genome-wide association scan of attention-deficit/hyperactivity disorder. Journal of the American Academy of Child and Adolescent Psychiatry, 49(9), 898–905.e3. http://doi.org/10.1016/j.jaac.2010.02.014

Neale, B. M., Medland, S. E., Ripke, S., Asherson, P., Franke, B., Lesch, K.-P., … Psychiatric GWAS Consortium: ADHD Subgroup. (2010). Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder. Journal of the American Academy of Child and Adolescent Psychiatry, 49(9), 884–897. http://doi.org/10.1016/j.jaac.2010.06.008

Neale, B. M., Medland, S., Ripke, S., Anney, R. J. L., Asherson, P., Buitelaar, J., … IMAGE II Consortium Group. (2010). Case-control genome-wide association study of attention-deficit/hyperactivity disorder. Journal of the American Academy of Child and Adolescent Psychiatry, 49(9), 906–920. http://doi.org/10.1016/j.jaac.2010.06.007

Ramos-Quiroga, J.-A., Sánchez-Mora, C., Casas, M., Garcia-Martínez, I., Bosch, R., Nogueira, M., … Ribasés, M. (2014). Genome-wide copy number variation analysis in adult attention-deficit and hyperactivity disorder. Journal of Psychiatric Research, 49, 60–67. http://doi.org/10.1016/j.jpsychires.2013.10.022

Richards, J. S., Hartman, C. A., Franke, B., Hoekstra, P. J., Heslenfeld, D. J., Oosterlaan, J., … Buitelaar, J. K. (2015). Differential susceptibility to maternal expressed emotion in children with ADHD and their siblings? Investigating plasticity genes, prosocial and antisocial behaviour. European Child & Adolescent Psychiatry, 24(2), 209–217. http://doi.org/10.1007/s00787-014-0567-2

Salatino-Oliveira, A., Wagner, F., Akutagava-Martins, G. C., Bruxel, E. M., Genro, J. P., Zeni, C., … Hutz, M. H. (2015). MAP1B and NOS1 genes are associated with working memory in youths with attention-deficit/hyperactivity disorder. European Archives of Psychiatry and Clinical Neuroscience. http://doi.org/10.1007/s00406-015-0626-9

Stergiakouli, E., Hamshere, M., Holmans, P., Langley, K., Zaharieva, I., deCODE Genetics, … Thapar. (2012). Investigating the contribution of common genetic variants to the risk and pathogenesis of ADHD. The American Journal of Psychiatry, 169(2), 186–194.

Yang, L., Neale, B. M., Liu, L., Lee, S. H., Wray, N. R., Ji, N., … Hu, X. (2013). Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: genome-wide association study of both common and rare variants. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: The Official Publication of the International Society of Psychiatric Genetics, 162B(5), 419–430. http://doi.org/10.1002/ajmg.b.32169

No ADHD funders to report as this time. (updated 5/1/2016)

Autism Spectrum Disorder (ASD)

Workgroup Chairs: Mark Daly and Anders Børglum

Coming Soon! (updated 5/1/2016)

Coming Soon! (updated 5/1/2016)

Coming Soon! (updated 5/1/2016)

Bipolar Disorders (BIP)

BIPgroup

Workgroup Chair: Ole Andreassen 

Coming Soon! (updated 5/1/2016)

Coming Soon! (updated 5/1/2016)

Coming Soon! (updated 5/1/2016)

Copy Number Variation Group (CNV)

Workgroup Chairs: Jonathan Sebat and Stephen Scherer

Coming Soon! (updated 5/1/2016)

Coming Soon! (updated 5/1/2016)

Coming Soon! (updated 5/1/2016)

Cross-Disorder Group (CDG)

Workgroup Chairs: Jordan Smoller and Kenneth Kendler

The Cross-Disorder workgroup has been a part of the PGC since 2008. The workgroup includes representatives from each of the PGC disease workgroups and its teleconferences are open to the full PGC membership. Our group focuses on the study of cross-phenotype genetic influences that transcend diagnostic boundaries.

Drs. Jordan Smoller and Ken Kendler co-chair our group. Analyses led by the Cross-Disorder group have identified pleiotropic effects and genetic correlations across multiple childhood- and adult-onset psychiatric disorders (PMID 23752797, 23933821). The Cross-Disorder group teleconferences are also a venue for scientific discussion of cross-phenotype analyses initiated by members of our PGC workgroups.

Members of the workgroup stay connected through regular conference calls (usually first Wednesday of the month, 9-10 am East Coast U.S. time) and the CDG listserv. If you are interested in joining our teleconferences or want further information regarding submitting secondary analysis proposal, please contact .

If you have questions about a specific analysis or if you are interested in joining an ongoing project, please contact the investigator leading that project.  

Cross-Disorder Group of the Psychiatric Genomics Consortium, Lee, S. H., Ripke, S., Neale, B. M., Faraone, S. V., Purcell, S. M., … International Inflammatory Bowel Disease Genetics Consortium (IIBDGC). (2013). Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nature Genetics45(9), 984–994. http://doi.org/10.1038/ng.2711

Solovieff, N., Cotsapas, C., Lee, P. H., Purcell, S. M., & Smoller, J. W. (2013). Pleiotropy in complex traits: challenges and strategies. Nature Reviews. Genetics14(7), 483–495. http://doi.org/10.1038/nrg3461

No CDG funders to report at this time. (updated 5/1/2016)

Eating Disorders (ED)

EDgroup

Workgroup Chairs: Cynthia Bulik and Gerome Breen

The eating disorders workgroup has been a part of the PGC since 2013. During that time, our membership has grown to include investigators from over 20 countries spanning North America, Europe, Asia, and Australasia. Our group focuses on the study of anorexia nervosa, bulimia nervosa, and binge-eating disorder.

Drs. Cynthia Bulik (University of North Carolina at Chapel Hill and Karolinska Institutet, Stockholm, Sweden) and Gerome Breen (King’s College London, UK) chair our group. Our interdisciplinary membership includes graduate and postdoctoral trainees in psychiatric genetics as well as distinguished faculty in psychiatry, biostatistics, genetics and related fields. We are currently working toward uniting researchers and clinicians from around the world to create the largest collection of DNA from individuals with AN in the world. Our current goals are to rapidly increase sample size and conduct an adequately powered GWAS of anorexia nervosa. We aim to identify causal loci for this often lethal disorder in order to understand the underlying biology and ultimately to effect better treatment.

Members of the workgroup stay connected through regular conference calls on the first Thursday of every month and via our workgroup listserve. Please contact if interested in learning more about the conference calls. If you are a member of the eating disorders workgroup and have questions about a specific analysis or if you are interested in joining an ongoing approved secondary analysis project, please contact the investigator leading that project.

We are an open and welcoming group. If you have samples from patients with eating disorders and would like to join the group and have your samples genotyped, please contact us. If you are interested in hearing more, please contact either or

Coming Soon! (updated 5/1/2016)

Major Depressive Disorders (MDD)

MDDgroup

Workgroup Chairs: Cathryn Lewis and Andrew McIntosh

MDD Core Analytical Group: Doug Levinson, Naomi Wray, Gerome Breen, Patrick Sullivan, and Stephan Ripke

The MDD workgroup has been a part of the PGC since its beginning circa 2007. During that time, our membership has grown to include well over 200 scientists and over 100,000 people with depression. Dr. Cathryn Lewis and Dr. Andrew McIntosh co-chair the group. The core analytical work is co-directed by Doug Levinson, Naomi Wray, Gerome Breen, Patrick Sullivan and Stephan Ripke. Our interdisciplinary membership includes distinguished faculty from most continents and all of the major academic disciplines required for the work (e.g., clinical psychiatry, psychology, genetics, and statistical genetics).  

It is well known that the genetic dissection of MDD is notably difficult. The PGC MDD group has confronted these challenges directly and in 2018 we published a paper in Nature Genetics identifying 44 variants associated with MDD. The current focuses of the group are to engage new collaborators to increase our sample size, to expand studies to non-European ancestry, and to identify the genetics of response to anti-depressants.

Milaneschi, Y., Lamers, F., Peyrot, W. J., Baune, B.T., Breen, G., Dehghan, A., … Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium (2017). Genetic association of major depression with atypical features and obesity-related immunometabolic dysregulations. Journal of the American Medical Association, 74(12), 1214-1225. https://doi.org/10.1001/jamapsychiatry.2017.3016 

Power, R. A., Tansey, K. E., Buttenschøn, H. N., Cohen-Woods, S., Bigdeli, T., … Lewis, C. M. (2017). Genome-wide association for major depression through age at onset stratification: major depressive disorder working group of the Psychiatric Genomics Consortium. Biological Psychiatry, 81(4), 325-335. https://doi.org/10.1016/j.biopsych.2016.05.010

 Van de Auwera, S., Peyrot, W. J., Milaneschi, Y., Hertel, J., Baune, B., … Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium (2018). Genome-wide gene-environment interaction in depression: A systematic evaluation of candidate genes: The childhood trauma working-group of PGC-MDD. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: The Official Publication of the International Society of Psychiatric Genetics, 177(1), 40-49. https://doi.org/10.1002/ajmg.b.32593

 Wray, N. R., Ripke, S., Mattheisen, M., Trzaskowski, M., Byrne, Abdellaoui, A., … Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium (2018). Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression. Nature Genetics, 50(5), 668-681. https://doi.org/10.1038/s41588-018-0090-3

 Zeng, Y., Navarro, P., Shirali, M., Howard, D. M., Adams, M. J., Hall, L. S., … McIntosh, A. M. (2017). Genome-wide regional heritability mapping identifies a locus within the TOX2 gene associated with major depressive disorder. Biological Psychiatry, 82(5), 312-321. https://doi.org/10.1016/j.biopsych.2016.12.012 

 

 

Obsessive Compulsive Disorder and Tourette Syndrome (OCD/TS)

OCDTSgroup

Workgroup Chair: Carol Mathews

The OCD/TS workgroup has been a part of the PGC since 2013. During that time, our membership has grown to include nearly 100 investigators from 17 countries. Our group focuses on the study of chronic tic and obsessive compulsive spectrum disorders.

Dr. Carol Mathews from the University of Florida chairs our group. Other leaders include Dr. Jeremiah Scharf, who, with Dr. Mathews, co-chairs the Tourette Syndrome Association International Consortium for Genetics (TSAICG), Drs. Jim Knowles and Evelyn Stewart, who co-chair the International Obsessive Compulsive Disorder Genetics Collaborative (IOCDF-GC), Dr. Gerry Nestadt, who chairs the OCD Collaborative Genetics Association Study (OCGAS), and Dr. Matthew State, who chairs TIC Genetics.  Our interdisciplinary membership includes graduate and postdoctoral trainees in psychiatric genetics as well as distinguished faculty in psychiatry, child psychiatry, neurology, psychology, biostatistics, genetics, and genetic epidemiology. Working together we have completed three genome-wide association studies (PMID 22889924, 22889921, 24821223), and a TS/OCD cross-disorder study (PMID 25158072), as well as a CNV analysis (PMID 25062598), and studies exploring the genetic architecture of Tourette Syndrome and OCD (PMID 24204291).  Our current goals are to expand our sample size for additional genome wide association studies of TS and OCD, and to explore the genetic relationships between these disorders and other neuropsychiatric disorders.

Members of the workgroup stay connected through regular conference calls every third Friday of the month and through a TS/OCD Working group Google group. If you are interested in learning more about the workgroup, please contact .

If you are a member of the TS/OCD workgroup and have questions about a specific analysis or if you are interested in joining an ongoing project, please contact the investigator leading that project.

Davis, L. K., Yu, D., Keenan, C. L., Gamazon, E. R., Konkashbaev, A. I., Derks, E. M., ... Scharf, J. M. (2013). Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture. PLoS Genetics, 9(10), e1003864. http://doi.org/10.1371/journal.pgen.1003864

Mattheisen, M., Samuels, J. F., Wang, Y., Greenberg, B. D., Fyer, A. J., McCracken, J. T., ... Nestadt, G. (2015). Genome-wide association study in obsessive-compulsive disorder: results from the OCGAS. Molecular Psychiatry, 20(3), 337–344. http://doi.org/10.1038/mp.2014.43

McGrath, L. M., Yu, D., Marshall, C., Davis, L. K., Thiruvahindrapuram, B., Li, B., ... Scharf, J. M. (2014). Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study. Journal of the American Academy of Child and Adolescent Psychiatry, 53(8), 910–919. http://doi.org/10.1016/j.jaac.2014.04.022

Scharf, J. M., Yu, D., Mathews, C. A., Neale, B. M., Stewart, S. E., Fagerness, J. A., ... Pauls, D. L. (2013). Genome-wide association study of Tourette's syndrome. Molecular Psychiatry, 18(6), 721–728. http://doi.org/10.1038/mp.2012.69

Yu, D., Mathews, C. A., Scharf, J. M., Neale, B. M., Davis, L. K., Gamazon, E. R., ... Pauls, D. L. (2015). Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD. The American Journal of Psychiatry, 172(1), 82–93. http://doi.org/10.1176/appi.ajp.2014.13101306

Pathway Analysis Group

Workgroup Chairs: Gerome Breen and Peter Holmans

Coming Soon! (updated 5/1/2016)

Coming Soon! (updated 5/1/2016)

Coming Soon! (updated 5/1/2016)

Post-Traumatic Stress Disorder (PTSD)

Workgroup Chairs: Karestan Koenen, Caroline Nievergelt, Israel Liberzon, Kerry Ressler

Our group focuses on the study of Post-Traumatic Stress Disorder (PTSD). The PTSD workgroup has been a part of the PGC since 2012. During that time, our membership has grown to include 81 investigators from 46 institutions representing 7 countries. 

Drs. Karestan Koenen, Kerry Ressler, and Israel Liberzon chair our group. The PGC PTSD workgroup also has two subgroups focused on Epigenetics and Imaging Genetics. Drs. Caroline Nievergelt, Monica Uddin, and Alicia Smith lead the Epigenetic subgroup and Drs. Rajendra Morey and Mark Logue lead the Imaging Genetics subgroup. Our interdisciplinary membership includes graduate and postdoctoral trainees in psychiatric genetics as well as distinguished faculty in Psychology, Genetics, Biostatistics, Epidemiology, Psychiatry, and Medicine. Working together we have laid the groundwork for our first large-scale GWAS, which will contain over 3,000 cases and 17,000 controls (see PMC4538342). Our current goals are 1) to conduct our first GWAS meta-analysis, 2) analyze Copy Number Variants (CNVs) and burden measures across PTSD studies in conjunction with the PGC CNV group, 3) continue increasing the PTSD GWAS dataset through additional genotyping on the PsychChip, 4) conduct our first Epigenome-Wide Association Study (EWAS) meta-analysis, and 5) conduct our first Imaging meta-analysis.

Members of the workgroup stay connected through regular conference calls the first and third Tuesdays of the month and in-person meetings twice a year at Academic conferences, usually the Society of Biological Psychiatry or Anxiety and Depression Association of America in the Spring and International Society for Traumatic Stress Studies in the Fall.

If you are a member of the PTSD workgroup and have questions about a specific analysis or if you are interested in joining an ongoing project, please contact . If you are interested in learning about the Epigenetics subgroup, please contact . If you would like to learn more about the Imaging Genetics subgroup, please contact .

More information about this workgroup can be found at their website:  https://pgc-ptsd.com/

Logue, M. W., Amstadter, A. B., Baker, D. G., Duncan, L., Koenen, K. C., Liberzon, I., … Uddin, M. (2015). The Psychiatric Genomics Consortium Posttraumatic Stress Disorder Workgroup: Posttraumatic Stress Disorder Enters the Age of Large-Scale Genomic Collaboration. Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology, 40(10), 2287–2297. http://doi.org/10.1038/npp.2015.118

Schizophrenia (SCZ)

Workgroup Chairs: Michael O'Donovan and James Walters

The Schizophrenia workgroup has been a part of the PGC since 2007. During that time, our membership has grown to include over 400 investigators from more than 100 institutions representing 40 countries.

Dr. Michael O’Donovan chairs our group. Our interdisciplinary membership includes graduate and postdoctoral trainees in psychiatric genetics as well as distinguished faculty with a wide range of expertise including human genetics, psychiatry, biostatistics, bioinformatics, psychology, cognitive neuroscience, cellular modeling and drug discovery. Working together we have studied the DNA of over 38,000 individuals with schizophrenia; this has allowed us to conduct very large genome-wide association studies (GWAS) which in turn has identified large numbers of common DNA variants associated with increased risk for schizophrenia (over 140 now, including unpublished data, PMID: 25056061, and PMID: 21926974). We have, with colleagues in the Copy Number Variant analysis (see Tab above) group of the PGC, conducted one of the largest analysis of rare copy number variation (CNVs) that has been performed for any disorder and this has identified novel loci that are associated with the disorder (manuscript currently under review). Our group has also worked with other groups in the PGC, including the Cross-Disorder group (see Tab above) which has defined the degree of genetic relationship between major psychiatric disorders (PMID: 23933821, PMID: 23453885), and the Network and Pathways analysis group (see Tab above) which has identified biologically processes including synaptic function, chromatin remodeling, and immune processes that are likely to mediate the impact of genetic variation on schizophrenia (PMID: 26007216).

Our current goals are to expand the samples sizes to include at least 100,000 people with schizophrenia, and to enhance the ancestral diversity of those samples in order to capture more of the common and rare genetic variation that impact on the disorder. In turn, this will allow us to use the genetic data in a range of interesting ways. For example we expect to be able to better highlight the underpinning pathophysiology, the benefit of which is to identify possible novel targets for treatment. We also hope to the genetic data will contribute to algorithms that might predict important clinical outcomes, for example those with particularly bad outcomes that may need more intensive early interventions. We aim to use the genetic data to stratify those with the disorder (or group people across different psychiatric disorders) into subgroups that may be relatively etiologically homogeneous, the aim being to identify patient strata that may have different therapeutic needs.

Members of the workgroup stay connected through regular conference calls (the frequency of which depends on need), through regular email contact on a list serve, and via a google group.

If you think you are able to contribute to our workgroup, please contact Mick O’Donovan (chair of the group) at odonovanmc@cardiff.ac.uk.  In your email, please use the title ‘Membership of SZ group of the PGC’. For existing members of the group who wish to propose secondary analysis, please email Jo Knight (jo.knight@lancaster.ac.uk).  For authorship guidelines, please read our publication policy.

Holland D, Wang Y, Thompson WK, Schork A, Chen CH, Lo MT, Witoelar A; Schizophrenia Working Group of the Psychiatric Genomics Consortium; Enhancing Neuro Imaging Genetics through Meta Analysis Consortium, Werge T, O'Donovan M, Andreassen OA, Dale AM. Estimating Effect Sizes and Expected Replication Probabilities from GWAS Summary Statistics. Front Genet. 2016 Feb 16;7:15. http://doi.org/10.3389/fgene.2016.00015

Franke B, Stein JL, Ripke S, Anttila V, Hibar DP, van Hulzen KJ, Arias-Vasquez A, Smoller JW, Nichols TE, Neale MC, McIntosh AM, Lee P, McMahon FJ, Meyer-Lindenberg A, Mattheisen M, Andreassen OA, Gruber O, Sachdev PS, Roiz-Santiañez R, Saykin AJ, Ehrlich S, Mather KA, Turner JA, Schwarz E, Thalamuthu A, Yao Y, Ho YY, Martin NG, Wright MJ; Schizophrenia Working Group of the Psychiatric Genomics Consortium; Psychosis Endophenotypes International Consortium; Wellcome Trust Case Control Consortium 2; Enigma Consortium, O'Donovan MC, Thompson PM, Neale BM, Medland SE, Sullivan PF. Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept. Nat Neurosci. 2016 Mar;19(3):420-31. http://doi.org/10.1038/nn.4228

Sekar A, Bialas AR, de Rivera H, Davis A, Hammond TR, Kamitaki N, Tooley K, Presumey J, Baum M, Van Doren V, Genovese G, Rose SA, Handsaker RE; Schizophrenia Working Group of the Psychiatric Genomics Consortium, Daly MJ, Carroll MC, Stevens B, McCarroll SA. Schizophrenia risk from complex variation of complement component 4. Nature. 2016 Feb 11;530(7589):177-83. http://doi.org/10.1038/nature16549

Wang Y, Thompson WK, Schork AJ, Holland D, Chen CH, Bettella F, Desikan RS, Li W, Witoelar A, Zuber V, Devor A; Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium; Enhancing Neuro Imaging Genetics through Meta Analysis Consortium, Nöthen MM, Rietschel M, Chen Q, Werge T, Cichon S, Weinberger DR, Djurovic S, O'Donovan M, Visscher PM, Andreassen OA, Dale AM. Leveraging Genomic Annotations and Pleiotropic Enrichment for Improved Replication Rates in Schizophrenia GWAS. PLoS Genet. 2016 Jan 25;12(1):e1005803. http://doi.org/10.1371/journal.pgen.1005803

Pers TH, Timshel P, Ripke S, Lent S, Sullivan PF, O'Donovan MC, Franke L, Hirschhorn JN; Schizophrenia Working Group of the Psychiatric Genomics Consortium. Comprehensive analysis of schizophrenia-associated loci highlights ion channel pathways and biologically plausible candidate causal genes. Hum Mol Genet. 2016 Mar 15;25(6):1247-54. http://doi.org/10.1093/hmg/ddw007

Bigdeli TB, Ripke S, Bacanu SA, Lee SH, Wray NR, Gejman PV, Rietschel M, Cichon S, St Clair D, Corvin A, Kirov G, McQuillin A, Gurling H, Rujescu D, Andreassen OA, Werge T, Blackwood DH, Pato CN, Pato MT, Malhotra AK, O'Donovan MC, Kendler KS, Fanous AH; Schizophrenia Working Group of the Psychiatric Genomics Consortium. Genome-wide association study reveals greater polygenic loading for schizophrenia in cases with a family history of illness. Am J Med Genet B Neuropsychiatr Genet. 2016 Mar;171(2):276-89. http://doi.org/10.1002/ajmg.b.32402

Andreassen OA, Thompson WK, Schork AJ, Ripke S, Mattingsdal M, Kelsoe JR, Kendler KS, O'Donovan MC, Rujescu D, Werge T, Sklar P; Psychiatric Genomics Consortium (PGC); Bipolar Disorder and Schizophrenia Working Groups, Roddey JC, Chen CH, McEvoy L, Desikan RS, Djurovic S, Dale AM. Correction: Improved Detection of Common Variants Associated with Schizophrenia and Bipolar Disorder Using Pleiotropy-Informed Conditional False Discovery Rate. PLoS Genet. 2015 Nov 5;11(11):e1005544. http://doi.org/10.1371/journal.pgen.1005544.

Loh PR, Bhatia G, Gusev A, Finucane HK, Bulik-Sullivan BK, Pollack SJ; Schizophrenia Working Group of Psychiatric Genomics Consortium, de Candia TR, Lee SH, Wray NR, Kendler KS, O'Donovan MC, Neale BM, Patterson N, Price AL. Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance-components analysis. Nat Genet. 2015 Dec;47(12):1385-92. http://doi.org/10.1038/ng.3431

Ingason A, Giegling I, Hartmann AM, Genius J, Konte B, Friedl M; Schizophrenia Working Group of the Psychiatric Genomics Consortium (PGC), Ripke S, Sullivan PF, St Clair D, Collier DA, O'Donovan MC, Mirnics K, Rujescu D. Expression analysis in a rat psychosis model identifies novel candidate genes validated in a large case-control sample of schizophrenia. Transl Psychiatry. 2015 Oct 13;5:e656. http://doi.org/10.1038/tp.2015.151

Vilhjálmsson BJ, Yang J, Finucane HK, Gusev A, Lindström S, Ripke S, Genovese G, Loh PR, Bhatia G, Do R, Hayeck T, Won HH; Schizophrenia Working Group of the Psychiatric Genomics Consortium, Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE) study, Kathiresan S, Pato M, Pato C, Tamimi R, Stahl E, Zaitlen N, Pasaniuc B, Belbin G, Kenny EE, Schierup MH, De Jager P, Patsopoulos NA, McCarroll S, Daly M, Purcell S, Chasman D, Neale B, Goddard M, Visscher PM, Kraft P, Patterson N, Price AL. Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores. Am J Hum Genet. 2015 Oct 1;97(4):576-92. http://doi.org/10.1016/j.ajhg.2015.09.001

Finucane HK, Bulik-Sullivan B, Gusev A, Trynka G, Reshef Y, Loh PR, Anttila V, Xu H, Zang C, Farh K, Ripke S, Day FR; ReproGen Consortium; Schizophrenia Working Group of the Psychiatric Genomics Consortium; RACI Consortium, Purcell S, Stahl E, Lindstrom S, Perry JR, Okada Y, Raychaudhuri S, Daly MJ, Patterson N, Neale BM, Price AL. Partitioning heritability by functional annotation using genome-wide association summary statistics. Nat Genet. 2015 Nov;47(11):1228-35. http://doi.org/10.1038/ng.3404

Bulik-Sullivan B, Finucane HK, Anttila V, Gusev A, Day FR, Loh PR; ReproGen Consortium; Psychiatric Genomics Consortium; Genetic Consortium for Anorexia Nervosa of the Wellcome Trust Case Control Consortium 3, Duncan L, Perry JR, Patterson N, Robinson EB, Daly MJ, Price AL, Neale BM. An atlas of genetic correlations across human diseases and traits. Nat Genet. 2015 Nov;47(11):1236-41. http://doi.org/10.1038/ng.3406

Lee SH, Byrne EM, Hultman CM, Kähler A, Vinkhuyzen AA, Ripke S, Andreassen OA, Frisell T, Gusev A, Hu X, Karlsson R, Mantzioris VX, McGrath JJ, Mehta D, Stahl EA, Zhao Q, Kendler KS, Sullivan PF, Price AL, O'Donovan M, Okada Y, Mowry BJ, Raychaudhuri S, Wray NR; Schizophrenia Working Group of the Psychiatric Genomics Consortium and Rheumatoid Arthritis Consortium International; Schizophrenia Working Group of the Psychiatric Genomics Consortium Authors, Byerley W, Cahn W, Cantor RM, Cichon S, Cormican P, Curtis D, Djurovic S, Escott-Price V, Gejman PV, Georgieva L, Giegling I, Hansen TF, Ingason A, Kim Y, Konte B, Lee PH, McIntosh A, McQuillin A, Morris DW, Nöthen MM, O'Dushlaine C, Olincy A, Olsen L, Pato CN, Pato MT, Pickard BS, Posthuma D, Rasmussen HB, Rietschel M, Rujescu D, Schulze TG, Silverman JM, Thirumalai S, Werge T; Schizophrenia Working Group of the Psychiatric Genomics Consortium Collaborators, Agartz I, Amin F, Azevedo MH, Bass N, Black DW, Blackwood DH, Bruggeman R, Buccola NG, Choudhury K, Cloninger RC, Corvin A, Craddock N, Daly MJ, Datta S, Donohoe GJ, Duan J, Dudbridge F, Fanous A, Freedman R, Freimer NB, Friedl M, Gill M, Gurling H, De Haan L, Hamshere ML, Hartmann AM, Holmans PA, Kahn RS, Keller MC, Kenny E, Kirov GK, Krabbendam L, Krasucki R, Lawrence J, Lencz T, Levinson DF, Lieberman JA, Lin DY, Linszen DH, Magnusson PK, Maier W, Malhotra AK, Mattheisen M, Mattingsdal M, McCarroll SA, Medeiros H, Melle I, Milanova V, Myin-Germeys I, Neale BM, Ophoff RA, Owen MJ, Pimm J, Purcell SM, Puri V, Quested DJ, Rossin L, Ruderfer D, Sanders AR, Shi J, Sklar P, St Clair D, Stroup TS, Van Os J, Visscher PM, Wiersma D, Zammit S; Rheumatoid Arthritis Consortium International Authors, Bridges SL Jr, Choi HK, Coenen MJ, de Vries N, Dieud P, Greenberg JD, Huizinga TW, Padyukov L, Siminovitch KA, Tak PP, Worthington J; Rheumatoid Arthritis Consortium International Collaborators, De Jager PL, Denny JC, Gregersen PK, Klareskog L, Mariette X, Plenge RM, van Laar M, van Riel P. New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis. Int J Epidemiol. 2015 Oct;44(5):1706-21. PubMed PMID: 26286434.

Bulik-Sullivan BK, Loh PR, Finucane HK, Ripke S, Yang J; Schizophrenia Working Group of the Psychiatric Genomics Consortium, Patterson N, Daly MJ, Price AL, Neale BM. LD Score regression distinguishes confounding from polygenicity in genome-wide association studies. Nat Genet. 2015 Mar;47(3):291-5. http://doi.org/10.1038/ng.3211.

Maier R, Moser G, Chen GB, Ripke S; Cross-Disorder Working Group of the Psychiatric Genomics Consortium, Coryell W, Potash JB, Scheftner WA, Shi J, Weissman MM, Hultman CM, Landén M, Levinson DF, Kendler KS, Smoller JW, Wray NR, Lee SH. Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder. Am J Hum Genet. 2015 Feb 5;96(2):283-94. http://doi.org/10.1016/j.ajhg.2014.12.006

Gusev A, Lee SH, Trynka G, Finucane H, Vilhjálmsson BJ, Xu H, Zang C, Ripke S, Bulik-Sullivan B, Stahl E; Schizophrenia Working Group of the Psychiatric Genomics Consortium; SWE-SCZ Consortium, Kähler AK, Hultman CM, Purcell SM, McCarroll SA, Daly M, Pasaniuc B, Sullivan PF, Neale BM, Wray NR, Raychaudhuri S, Price AL; Schizophrenia Working Group of the Psychiatric Genomics Consortium; SWE-SCZ Consortium. Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases. Am J Hum Genet. 2014 Nov 6;95(5):535-52. http://doi.org/10.1016/j.ajhg.2014.10.004

Schizophrenia Working Group of the Psychiatric Genomics Consortium. Biological insights from 108 schizophrenia-associated genetic loci. Nature. 2014 Jul 24;511(7510):421-7. http://doi.org/10.1038/nature13595

Chan Y, Lim ET, Sandholm N, Wang SR, McKnight AJ, Ripke S; DIAGRAM Consortium; GENIE Consortium; GIANT Consortium; IIBDGC Consortium; PGC Consortium, Daly MJ, Neale BM, Salem RM, Hirschhorn JN. An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases. Am J Hum Genet. 2014 Mar 6;94(3):437-52. http://doi.org/10.1016/j.ajhg.2014.02.006

Andreassen OA, Harbo HF, Wang Y, Thompson WK, Schork AJ, Mattingsdal M, Zuber V, Bettella F, Ripke S, Kelsoe JR, Kendler KS, O'Donovan MC, Sklar P; Psychiatric Genomics Consortium (PGC) Bipolar Disorder and Schizophrenia Work Groups; International Multiple Sclerosis Genetics Consortium (IMSGC), McEvoy LK, Desikan RS, Lie BA, Djurovic S, Dale AM. Genetic pleiotropy between multiple sclerosis and schizophrenia but not bipolar disorder: differential involvement of immune-related gene loci. Mol Psychiatry. 2015 Feb;20(2):207-14. http://doi.org/10.1038/mp.2013.195

Hargreaves A, Anney R, O'Dushlaine C, Nicodemus KK; Schizophrenia Psychiatric Genome-Wide Association Study Consortium (PGC-SCZ); Wellcome Trust Case Control Consortium 2, Gill M, Corvin A, Morris D, Donohoe G. The one and the many: effects of the cell adhesion molecule pathway on neuropsychological function in psychosis. Psychol Med. 2014 Jul;44(10):2177-87. http://doi.org/10.1017/S0033291713002663

Ruderfer DM, Fanous AH, Ripke S, McQuillin A, Amdur RL; Schizophrenia Working Group of Psychiatric Genomics Consortium; Bipolar Disorder Working Group of Psychiatric Genomics Consortium; Cross-Disorder Working Group of Psychiatric Genomics Consortium, Gejman PV, O'Donovan MC, Andreassen OA, Djurovic S, Hultman CM, Kelsoe JR, Jamain S, Landén M, Leboyer M, Nimgaonkar V, Nurnberger J, Smoller JW, Craddock N, Corvin A, Sullivan PF, Holmans P, Sklar P, Kendler KS. Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia. Mol Psychiatry. 2014 Sep;19(9):1017-24. http://doi.org/10.1038/mp.2013.138

Cross-Disorder Group of the Psychiatric Genomics Consortium, Lee SH, Ripke S, Neale BM, Faraone SV, Purcell SM, Perlis RH, Mowry BJ, Thapar A, Goddard ME, Witte JS, Absher D, Agartz I, Akil H, Amin F, Andreassen OA, Anjorin A, Anney R, Anttila V, Arking DE, Asherson P, Azevedo MH, Backlund L, Badner JA, Bailey AJ, Banaschewski T, Barchas JD, Barnes MR, Barrett TB, Bass N, Battaglia A, Bauer M, Bayés M, Bellivier F, Bergen SE, Berrettini W, Betancur C, Bettecken T, Biederman J, Binder EB, Black DW, Blackwood DH, Bloss CS, Boehnke M, Boomsma DI, Breen G, Breuer R, Bruggeman R, Cormican P, Buccola NG, Buitelaar JK, Bunney WE, Buxbaum JD, Byerley WF, Byrne EM, Caesar S, Cahn W, Cantor RM, Casas M, Chakravarti A, Chambert K, Choudhury K, Cichon S, Cloninger CR, Collier DA, Cook EH, Coon H, Cormand B, Corvin A, Coryell WH, Craig DW, Craig IW, Crosbie J, Cuccaro ML, Curtis D, Czamara D, Datta S, Dawson G, Day R, De Geus EJ, Degenhardt F, Djurovic S, Donohoe GJ, Doyle AE, Duan J, Dudbridge F, Duketis E, Ebstein RP, Edenberg HJ, Elia J, Ennis S, Etain B, Fanous A, Farmer AE, Ferrier IN, Flickinger M, Fombonne E, Foroud T, Frank J, Franke B, Fraser C, Freedman R, Freimer NB, Freitag CM, Friedl M, Frisén L, Gallagher L, Gejman PV, Georgieva L, Gershon ES, Geschwind DH, Giegling I, Gill M, Gordon SD, Gordon-Smith K, Green EK, Greenwood TA, Grice DE, Gross M, Grozeva D, Guan W, Gurling H, De Haan L, Haines JL, Hakonarson H, Hallmayer J, Hamilton SP, Hamshere ML, Hansen TF, Hartmann AM, Hautzinger M, Heath AC, Henders AK, Herms S, Hickie IB, Hipolito M, Hoefels S, Holmans PA, Holsboer F, Hoogendijk WJ, Hottenga JJ, Hultman CM, Hus V, Ingason A, Ising M, Jamain S, Jones EG, Jones I, Jones L, Tzeng JY, Kähler AK, Kahn RS, Kandaswamy R, Keller MC, Kennedy JL, Kenny E, Kent L, Kim Y, Kirov GK, Klauck SM, Klei L, Knowles JA, Kohli MA, Koller DL, Konte B, Korszun A, Krabbendam L, Krasucki R, Kuntsi J, Kwan P, Landén M, Långström N, Lathrop M, Lawrence J, Lawson WB, Leboyer M, Ledbetter DH, Lee PH, Lencz T, Lesch KP, Levinson DF, Lewis CM, Li J, Lichtenstein P, Lieberman JA, Lin DY, Linszen DH, Liu C, Lohoff FW, Loo SK, Lord C, Lowe JK, Lucae S, MacIntyre DJ, Madden PA, Maestrini E, Magnusson PK, Mahon PB, Maier W, Malhotra AK, Mane SM, Martin CL, Martin NG, Mattheisen M, Matthews K, Mattingsdal M, McCarroll SA, McGhee KA, McGough JJ, McGrath PJ, McGuffin P, McInnis MG, McIntosh A, McKinney R, McLean AW, McMahon FJ, McMahon WM, McQuillin A, Medeiros H, Medland SE, Meier S, Melle I, Meng F, Meyer J, Middeldorp CM, Middleton L, Milanova V, Miranda A, Monaco AP, Montgomery GW, Moran JL, Moreno-De-Luca D, Morken G, Morris DW, Morrow EM, Moskvina V, Muglia P, Mühleisen TW, Muir WJ, Müller-Myhsok B, Murtha M, Myers RM, Myin-Germeys I, Neale MC, Nelson SF, Nievergelt CM, Nikolov I, Nimgaonkar V, Nolen WA, Nöthen MM, Nurnberger JI, Nwulia EA, Nyholt DR, O'Dushlaine C, Oades RD, Olincy A, Oliveira G, Olsen L, Ophoff RA, Osby U, Owen MJ, Palotie A, Parr JR, Paterson AD, Pato CN, Pato MT, Penninx BW, Pergadia ML, Pericak-Vance MA, Pickard BS, Pimm J, Piven J, Posthuma D, Potash JB, Poustka F, Propping P, Puri V, Quested DJ, Quinn EM, Ramos-Quiroga JA, Rasmussen HB, Raychaudhuri S, Rehnström K, Reif A, Ribasés M, Rice JP, Rietschel M, Roeder K, Roeyers H, Rossin L, Rothenberger A, Rouleau G, Ruderfer D, Rujescu D, Sanders AR, Sanders SJ, Santangelo SL, Sergeant JA, Schachar R, Schalling M, Schatzberg AF, Scheftner WA, Schellenberg GD, Scherer SW, Schork NJ, Schulze TG, Schumacher J, Schwarz M, Scolnick E, Scott LJ, Shi J, Shilling PD, Shyn SI, Silverman JM, Slager SL, Smalley SL, Smit JH, Smith EN, Sonuga-Barke EJ, St Clair D, State M, Steffens M, Steinhausen HC, Strauss JS, Strohmaier J, Stroup TS, Sutcliffe JS, Szatmari P, Szelinger S, Thirumalai S, Thompson RC, Todorov AA, Tozzi F, Treutlein J, Uhr M, van den Oord EJ, Van Grootheest G, Van Os J, Vicente AM, Vieland VJ, Vincent JB, Visscher PM, Walsh CA, Wassink TH, Watson SJ, Weissman MM, Werge T, Wienker TF, Wijsman EM, Willemsen G, Williams N, Willsey AJ, Witt SH, Xu W, Young AH, Yu TW, Zammit S, Zandi PP, Zhang P, Zitman FG, Zöllner S, Devlin B, Kelsoe JR, Sklar P, Daly MJ, O'Donovan MC, Craddock N, Sullivan PF, Smoller JW, Kendler KS, Wray NR; International Inflammatory Bowel Disease Genetics Consortium (IIBDGC). Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet. 2013 Sep;45(9):984-94. http://doi.org/10.1038/ng.2711 

Andreassen OA, Thompson WK, Schork AJ, Ripke S, Mattingsdal M, Kelsoe JR, Kendler KS, O'Donovan MC, Rujescu D, Werge T, Sklar P; Psychiatric Genomics Consortium (PGC); Bipolar Disorder and Schizophrenia Working Groups, Roddey JC, Chen CH, McEvoy L, Desikan RS, Djurovic S, Dale AM. Improved detection of common variants associated with schizophrenia and bipolar disorder using pleiotropy-informed conditional false discovery rate. PLoS Genet. 2013 Apr;9(4):e1003455. http://doi.org/10.1371/journal.pgen.1003455.

Schork AJ, Thompson WK, Pham P, Torkamani A, Roddey JC, Sullivan PF, Kelsoe JR, O'Donovan MC, Furberg H; Tobacco and Genetics Consortium; Bipolar Disorder Psychiatric Genomics Consortium; Schizophrenia Psychiatric Genomics Consortium, Schork NJ, Andreassen OA, Dale AM. All SNPs are not created equal: genome-wide association studies reveal a consistent pattern of enrichment among functionally annotated SNPs. PLoS Genet. 2013 Apr;9(4):e1003449. http://doi.org10.1371/journal.pgen.1003449.

Andreassen OA, Djurovic S, Thompson WK, Schork AJ, Kendler KS, O'Donovan MC, Rujescu D, Werge T, van de Bunt M, Morris AP, McCarthy MI; International Consortium for Blood Pressure GWAS; Diabetes Genetics Replication and Meta-analysis Consortium; Psychiatric Genomics Consortium Schizophrenia Working Group, Roddey JC, McEvoy LK, Desikan RS, Dale AM. Improved detection of common variants associated with schizophrenia by leveraging pleiotropy with cardiovascular-disease risk factors. Am J Hum Genet. 2013 Feb 7; 92(2):197-209. http://doi.org10.1016/j.ajhg.2013.01.001. 

Levinson DF, Shi J, Wang K, Oh S, Riley B, Pulver AE, Wildenauer DB, Laurent C, Mowry BJ, Gejman PV, Owen MJ, Kendler KS, Nestadt G, Schwab SG, Mallet J, Nertney D, Sanders AR, Williams NM, Wormley B, Lasseter VK, Albus M, Godard-Bauché S, Alexander M, Duan J, O'Donovan MC, Walsh D, O'Neill A, Papadimitriou GN, Dikeos D, Maier W, Lerer B, Campion D, Cohen D, Jay M, Fanous A, Eichhammer P, Silverman JM, Norton N, Zhang N, Hakonarson H, Gao C, Citri A, Hansen M, Ripke S; Schizophrenia Psychiatric GWAS Consortium, Dudbridge F, Holmans PA. Genome-wide association study of multiplex schizophrenia pedigrees. Am J Psychiatry. 2012 Sep;169(9):963-73. PubMed PMID: 22885689.

Hamshere ML, Walters JT, Smith R, Richards AL, Green E, Grozeva D, Jones I, Forty L, Jones L, Gordon-Smith K, Riley B, O'Neill FA, Kendler KS, Sklar P, Purcell S, Kranz J; Schizophrenia Psychiatric Genome-wide Association Study Consortium; Wellcome Trust Case Control Consortium+; Wellcome Trust Case Control Consortium 2, Morris D, Gill M, Holmans P, Craddock N, Corvin A, Owen MJ, O'Donovan MC. Genome-wide significant associations in schizophrenia to ITIH3/4,CACNA1C and SDCCAG8, and extensive replication of associations reported by the Schizophrenia PGC. Mol Psychiatry. 2013 Jun; 18(6):708-12. http://doi.org/10.1038/mp.2012.67.

Lee SH, DeCandia TR, Ripke S, Yang J; Schizophrenia Psychiatric Genome-Wide Association Study Consortium (PGC-SCZ); International Schizophrenia Consortium (ISC); Molecular Genetics of Schizophrenia Collaboration (MGS), Sullivan PF, Goddard ME, Keller MC, Visscher PM, Wray NR. Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs. Nat Genet. 2012 Feb 19; 44(3):247-50. http://doi.org/10.1038/ng.1108.

Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium.Genome-wide association study identifies five new schizophrenia loci. Nat Genet. 2011 Sep 18; 43(10):969-76. http://doi.org/10.1038/ng.940.

Substance Use Disorders (SUD)

SUDgroup

Workgroup Chairs: Arpana Agrawal, Howard Edenberg, Joel Gelernter

The SUD workgroup has been a part of the PGC since 2014. Our group focuses on the study of use and misuse of alcohol, cannabis, cocaine, opioids, tobacco and other illicit substances. We receive funding support from the National Institute on Drug Abuse (NIDA) and the National Institute on Alcohol Abuse and Alcoholism (NIAAA; via the Collaborative Study on the Genetics of Alcoholism).

Drs. Agrawal, Edenberg and Gelernter chair our group. A representative from every study contributing data to our groups serves on the Steering Committee. Raymond Walters, PhD, serves as the lead analyst for the group. Benjamin Neale, PhD, is statistical advisor to the group. Our current goals are to conduct genomewide meta-analyses of substance-related phenotypes utilizing a variety of harmonization methods that allow us to leverage diagnostic data as well as indices of heavy or maladaptive use (e.g. heavy drinking, IV drug use). In addition to the study of individual substances, we focus on genetic contributions to cross-substance and cross-disorder relationships.

Members of the workgroup stay connected through regular conference calls that occur the 2nd Monday of every month and via regular email. SUD also hosts phone calls that connect a broader community of addiction researchers to experts in genomic methods.;

We welcome your participation and are eager to collaborate with investigators who might be willing to share raw genotypic data or effect sizes. If you are interested in learning more about our group, please contact , , or .

Coming Soon! (updated 5/1/2016)