Genome-wide association analysis of treatment resistant schizophrenia for variant discovery and polygenic assessment

Kane JM, Agid O, Baldwin ML, Howes O, Lindenmayer J-P, Marder S, et al. Clinical guidance on the identification and management of treatment-resistant schizophrenia. J Clin Psychiatry. 2019. https://doi.org/10.4088/JCP.18com12123.

Article  PubMed  Google Scholar 

Huhn M, Nikolakopoulou A, Schneider-Thoma J, Krause M, Samara M, Peter N, et al. Comparative efficacy and tolerability of 32 oral antipsychotics for the acute treatment of adults with multi-episode schizophrenia: a systematic review and network meta-analysis. The Lancet. 2019;394:939–51. https://doi.org/10.1016/S0140-6736(19)31135-3.

Article  CAS  Google Scholar 

Aringhieri S, Carli M, Kolachalam S, Verdesca V, Cini E, Rossi M, et al. Molecular targets of atypical antipsychotics: from mechanism of action to clinical differences. Pharmacol Ther. 2018;192:20–41. https://doi.org/10.1016/j.pharmthera.2018.06.012.

Article  CAS  PubMed  Google Scholar 

Pardiñas AF, Smart SE, Willcocks IR, Holmans PA, Dennison CA, Lynham AJ, et al. Interaction testing and polygenic risk scoring to estimate the association of common genetic variants with treatment resistance in schizophrenia. JAMA Psychiat. 2022;79:260–9. https://doi.org/10.1001/jamapsychiatry.2021.3799.

Article  Google Scholar 

Gillespie AL, Samanaite R, Mill J, Egerton A, MacCabe JH. Is treatment-resistant schizophrenia categorically distinct from treatment-responsive schizophrenia? A systematic review. BMC Psychiatry. 2017;17:12. https://doi.org/10.1186/s12888-016-1177-y.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ruderfer DM, Charney AW, Readhead B, Kidd BA, Kähler AK, Kenny PJ, et al. Polygenic overlap between schizophrenia risk and antipsychotic response: a genomic medicine approach. Lancet Psychiatry. 2016;3:350–7. https://doi.org/10.1016/S2215-0366(15)00553-2.

Article  PubMed  PubMed Central  Google Scholar 

Hiemke C, Bergemann N, Clement HW, Conca A, Deckert J, Domschke K, et al. Consensus guidelines for therapeutic drug monitoring in neuropsychopharmacology: update 2017. Pharmacopsychiatry. 2018;51: e1. https://doi.org/10.1055/s-0037-1600991.

Article  CAS  PubMed  Google Scholar 

Smith RL, O’Connell K, Athanasiu L, Djurovic S, Kringen MK, Andreassen OA, et al. Identification of a novel polymorphism associated with reduced clozapine concentration in schizophrenia patients—a genome-wide association study adjusting for smoking habits. Transl Psychiatry. 2020;10:1–10. https://doi.org/10.1038/s41398-020-00888-1.

Article  CAS  Google Scholar 

Chang CC, Chow CC, Tellier LC, Vattikuti S, Purcell SM, Lee JJ. Second-generation PLINK: rising to the challenge of larger and richer datasets. GigaScience. 2015;4:7. https://doi.org/10.1186/s13742-015-0047-8.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MAR, Bender D, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81:559–75.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Loh P-R, Danecek P, Palamara PF, Fuchsberger C, Reshef YA, Finucane KH, et al. Reference-based phasing using the Haplotype Reference Consortium panel. Nat Genet. 2016;48:1443–8. https://doi.org/10.1038/ng.3679.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Loh P-R, Palamara PF, Price AL. Fast and accurate long-range phasing in a UK Biobank cohort. Nat Genet. 2016;48:811–6. https://doi.org/10.1038/ng.3571.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Das S, Forer L, Schönherr S, Sidore C, Locke AE, Kwong A, et al. Next-generation genotype imputation service and methods. Nat Genet. 2016;48:1284–7. https://doi.org/10.1038/ng.3656.

Article  CAS  PubMed  PubMed Central  Google Scholar 

R Core Team. R: A Language and Environment for Statistical Computing [Internet]. R Foundation for Statistical Computing; 2021 [cited 2024 Feb 12]. Available from: https://www.R-project.org/

Machiela MJ, Chanock SJ. LDlink: a web-based application for exploring population-specific haplotype structure and linking correlated alleles of possible functional variants. Bioinforma Oxf Engl. 2015;31:3555–7. https://doi.org/10.1093/bioinformatics/btv402.

Article  CAS  Google Scholar 

Hoffman GE, Bendl J, Voloudakis G, Montgomery KS, Sloofman L, Wang Y-C, et al. CommonMind consortium provides transcriptomic and epigenomic data for schizophrenia and bipolar disorder. Sci Data. 2019;6:180. https://doi.org/10.1038/s41597-019-0183-6.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Love MI, Huber W, Anders S. Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2. Genome Biol. 2014;15:550. https://doi.org/10.1186/s13059-014-0550-8.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Shabalin AA. Matrix eQTL: ultra fast eQTL analysis via large matrix operations. Bioinforma Oxf Engl. 2012;28:1353–8. https://doi.org/10.1093/bioinformatics/bts163.

Article  CAS  Google Scholar 

Trubetskoy V, Pardiñas AF, Qi T, Panagiotaropoulou G, Awasthi S, Bigdeli TB, et al. Mapping genomic loci implicates genes and synaptic biology in schizophrenia. Nature. 2022;604:502–8. https://doi.org/10.1038/s41586-022-04434-5.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ge T, Chen C-Y, Ni Y, Feng Y-CA, Smoller JW. Polygenic prediction via Bayesian regression and continuous shrinkage priors. Nat Commun. 2019;10:1776. https://doi.org/10.1038/s41467-019-09718-5.

Article  CAS  PubMed  PubMed Central  Google Scholar 

1000 Genomes Project Consortium, Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, et al. A global reference for human genetic variation. Nature. 2015;526:68–74. https://doi.org/10.1038/nature15393.

Article  CAS  Google Scholar 

Legge SE, Dennison CA, Pardiñas AF, Rees E, Lynham AJ, Hopkins L, et al. Clinical indicators of treatment-resistant psychosis. Br J Psychiatry. 2020;216:259–66. https://doi.org/10.1192/bjp.2019.120.

Article  PubMed  Google Scholar 

Werner MCF, Wirgenes KV, Haram M, Bettella F, Lunding SH, Rødevand L, et al. Indicated association between polygenic risk score and treatment-resistance in a naturalistic sample of patients with schizophrenia spectrum disorders. Schizophr Res. 2020;218:55–62. https://doi.org/10.1016/j.schres.2020.03.006.

Article  PubMed  Google Scholar 

Frank J, Lang M, Witt SH, Strohmaier J, Rujescu D, Cichon S, et al. Identification of increased genetic risk scores for schizophrenia in treatment-resistant patients. Mol Psychiatry. 2015;20:150–1. https://doi.org/10.1038/mp.2014.56.

Article  CAS  PubMed  Google Scholar 

Kowalec K, Lu Y, Sariaslan A, Song J, Ploner A, Dalman C, et al. Increased schizophrenia family history burden and reduced premorbid IQ in treatment-resistant schizophrenia: a Swedish National Register and Genomic Study. Mol Psychiatry. 2021;26:4487–95. https://doi.org/10.1038/s41380-019-0575-1.

Article  CAS  PubMed  Google Scholar 

Facal F, Costas J. Polygenic risk scores for schizophrenia and treatment resistance: new data, systematic review and meta-analysis. Schizophr Res. 2023;252:189–97. https://doi.org/10.1016/j.schres.2023.01.012.

Article  CAS  PubMed  Google Scholar 

Kappel DB, Legge SE, Hubbard L, Willcocks IR, O’Connell KS, Smith RL, et al. Genomic stratification of clozapine prescription patterns using schizophrenia polygenic scores. Biol Psychiatry. 2023;93:149–56. https://doi.org/10.1016/j.biopsych.2022.07.014.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Koch E, Kämpe A, Alver M, Sigurðarson S, Einarsson G, Partanen J, et al. Polygenic liability for antipsychotic dosage and polypharmacy - a real-world registry and biobank study. Neuropsychopharmacology. 2024;49:1113–9. https://doi.org/10.1038/s41386-023-01792-0.

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