Blokland GAM, Del Re EC, Mesholam-Gately RI, Jovicich J, Trampush JW, Keshavan MS, DeLisi LE, Walters JTR, Turner JA, Malhotra AK, Lencz T, Shenton ME, Voineskos AN, Rujescu D, Giegling I, Kahn RS, Roffman JL, Holt DJ, Ehrlich S, Kikinis Z, Dazzan P, Murray RM, Di Forti M, Lee J, Sim K, Lam M, Wolthusen RPF, de Zwarte SMC, Walton E, Cosgrove D, Kelly S, Maleki N, Osiecki L, Picchioni MM, Bramon E, Russo M, David AS, Mondelli V, Reinders AATS, Falcone MA, Hartmann AM, Konte B, Morris DW, Gill M, Corvin AP, Cahn W, Ho NF, Liu JJ, Keefe RSE, Gollub RL, Manoach DS, Calhoun VD, Schulz SC, Sponheim SR, Goff DC, Buka SL, Cherkerzian S, Thermenos HW, Kubicki M, Nestor PG, Dickie EW, Vassos E, Ciufolini S, Reis Marques T, Crossley NA, Purcell SM, Smoller JW, van Haren NEM, Toulopoulou T, Donohoe G, Goldstein JM, Seidman LJ, McCarley RW, Petryshen TL
Schizophr. Res. 2018 05;195:306-317
BACKGROUND: Schizophrenia has a large genetic component, and the pathways from genes to illness manifestation are beginning to be identified. The Genetics of Endophenotypes of Neurofunction to Understand Schizophrenia (GENUS) Consortium aims to clarify the role of genetic variation in brain abnormalities underlying schizophrenia. This article describes the GENUS Consortium sample collection.
METHODS: We identified existing samples collected for schizophrenia studies consisting of patients, controls, and/or individuals at familial high-risk (FHR) for schizophrenia. Samples had single nucleotide polymorphism (SNP) array data or genomic DNA, clinical and demographic data, and neuropsychological and/or brain magnetic resonance imaging (MRI) data. Data were subjected to quality control procedures at a central site.
RESULTS: Sixteen research groups contributed data from 5199 psychosis patients, 4877 controls, and 725 FHR individuals. All participants have relevant demographic data and all patients have relevant clinical data. The sex ratio is 56.5% male and 43.5% female. Significant differences exist between diagnostic groups for premorbid and current IQ (both p<1×10). Data from a diversity of neuropsychological tests are available for 92% of participants, and 30% have structural MRI scans (half also have diffusion-weighted MRI scans). SNP data are available for 76% of participants. The ancestry composition is 70% European, 20% East Asian, 7% African, and 3% other.
CONCLUSIONS: The Consortium is investigating the genetic contribution to brain phenotypes in a schizophrenia sample collection of >10,000 participants. The breadth of data across clinical, genetic, neuropsychological, and MRI modalities provides an important opportunity for elucidating the genetic basis of neural processes underlying schizophrenia.