OSCR

Genome-wide tandem repeat expansions modify schizophrenia risk in the presence of a 22q11.2 deletion.

Overview

Authors: Muyang Cheng1,2, Yue Yin2, Worrawat Engchuan2,3, Tracy Heung4,5, International 22q11.2 Brain Behavior Consortium (IBBC)6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48,49,50,51,52,53,54,55,56,57,58,59,60,61,62,63,64,65,66,67,68,69,70, Bernice E Morrow71,72, Anne S Bassett4,5,73, Ryan K C Yuen1,2,3
ORCID iDs: Muyang Cheng, Worrawat Engchuan, Anne S Bassett, Ryan K C Yuen
73 affiliations
  1. Department of Molecular Genetics, University of Toronto, Toronto, Ontario Canada
  2. Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario Canada
  3. The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario Canada
  4. Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario Canada
  5. The Dalglish Family 22q Clinic for Adults with 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario Canada
  6. Developmental Behavioral Pediatrics, University of California, Davis, CA USA
  7. Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, Geneva, Switzerland
  8. Department of Neurology and Psychiatry, Developmental Imaging and Psychopathology Lab, Bambino Gesù Children’s Hospital, IRCCS and the University of Geneva, Geneva, Switzerland
  9. Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA USA
  10. Department of Neurology and Psychiatry, Sapienza University, Rome, Italy
  11. Dalglish Family 22q Clinic, and Advisium, Toronto General Hospital, University Health Network, and ’s Heeren Loo Zorggroep, Toronto, Canada
  12. Center for Human Genetics, Katholieke University, Leuven, Leuven, Belgium
  13. Department of Psychiatry, The Hospital for Sick Children and University of Toronto, Toronto, Canada
  14. Genetics Department, Timone Enfants University Hospital Center, Public Assistance-Marseille Hospitals, Marseille, France
  15. Child Health Evaluative Sciences, The Hospital for Sick Children, Peter Gilgan Centre for Research & Learning, Toronto, Canada
  16. School of Psychology, University of Newcastle, New Castle, Australia
  17. Felsenstein Medical Research Center, Sackler Faculty of Medicine, Tel Aviv University and Felsenstein Medical Research Center, Tel Aviv, Israel
  18. Child and Adolescent Psychiatry Department, Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Marañón, CIBERSAM, School of Medicine, Universidad Complutense, Madrid, Spain
  19. King’s College London, London, United Kingdom
  20. University of California San Francisco, San Francisco, USA
  21. University of Maryland, Maryland, USA
  22. Clinical Genetics Research Program and Department of Psychiatry, Centre for Addiction and Mental Health and the University of Toronto, Toronto, Canada
  23. Department of Human Genetics, KU Leuven, Leuven, Belgium
  24. Division of Human Genetics, The Children’s Hospital of Philadelphia, Toronto, Canada
  25. Department of Human Genetics and Department of Psychiatry and Behavioral Sciences, Emory University School of Medicine, Atlanta, USA
  26. Department of Human Genetics, Emory University, Atlanta, GA USA
  27. Department of Medical Genetics, Bambino Gesu Hospital, Rome, Italy
  28. Pediatric Cardiology, Son Espases University Hospital, Balearic Islands, Spain
  29. Department of Medical Genetics, Bambino Gesù Hospital, Rome, Italy
  30. Department of Psychiatry, University of Geneva, Geneva, Switzerland
  31. Department of Genetic Medicine and Development, School of Medicine, University of Geneva, Geneva, Switzerland
  32. Division of Human Genetics, The Children’s Hospital of Philadelphia and the Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA USA
  33. Department of Psychiatry and Psychology, Maastricht University, Maastricht, Netherlands
  34. Institute of Medical and Molecular Genetics (INGEMM), Instituto de Genética Médica y Molecular, Hospital Universitario La Paz, Madrid, Spain
  35. Department of Pediatrics, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, Netherlands
  36. Department of Psychiatry, Hospital Clinico Universidad de Chile, Santiago, Chile
  37. Division of Cardiology, CHOP; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA USA
  38. The Child Psychiatry Unit, Edmond and Lily Sapfra Children’s Hospital, Sackler Faculty of Medicine, Tel Aviv University and Sheba Medical Center, Tel Aviv, Israel
  39. Department of Psychiatry, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA USA
  40. Genomics of Health and UDMGC, Son Espases University Hospital, Balearic Islands Health Research Institute (IDISBA), Balearic Islands, Spain
  41. Field Applications Bioinformatics Support, Pacific Biosciences, Menlo Park, USA
  42. Department of Allied Health Sciences, Duke University and the University of North Carolina at Chapel Hill Medical Center, Chapel Hill, NC USA
  43. University of Washington and Seattle Children’s Hospiral, Seattle, USA
  44. Department of Human Genetics, Emory University School of Medicine, Atlanta, GA USA
  45. Department of Psychiatry and Behavioral Sciences, and Program in Neuroscience, SUNY Upstate Medical University, Syracuse, NY USA
  46. Institute of Medical and Molecular Genetics (INGEMM), Hospital General Universitario Gregorio Marañón, Madrid, Spain
  47. Department of Pediatrics, La Sapienza University, Rome, Italy
  48. Division of Genome Diagnostics, The Hospital for Sick Children and Department of Laboratory Medicine and Pathobiology; University of Toronto, Toronto, Canada
  49. Genomics of Health and Unit of Molecular Diagnosis and Clinical Genetics, Son Espases University Hospital, Balearic Islands Health Research Institute, Mallorca, Spain
  50. Department of Psychiatry, Royal College of Surgeons in Ireland, Dublin, Ireland
  51. Department of Psychiatry, King’s College London, London, UK
  52. Department of Psychiatry, Facultad de Medicina, Universidad de Chile, Santiago, Chile
  53. Psychological Medicine and Clinical Neuroscience, Cardiff University, Cardiff, UK
  54. Department of Neuroscience, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy
  55. Department of Pediatrics, Gynecology, and Obstetrics, La Sapienza University, Rome, Italy
  56. Center for Genetics and Genomics, Facultad de Medicina Clinica Alemana-Universidad del Desarrollo, Santiago, Chile
  57. Clinical Psychology Unit for Intellectual and Developmental Disabilities, Faculty of Psychology and Educational Sciences, University of Geneva, Geneva, Switzerland
  58. Departments of Psychiatry and Biobehavioral Sciences and Psychology, Semel Institute for Neuroscience and Human Behavior, University of California at Los Angeles, Los Angeles, USA
  59. Department of Pediatrics, Duke University, Durham, USA
  60. Dalglish Family 22q Clinic, and Department of Medicine, Toronto General Hospital, and the University of Toronto, Toronto, Canada
  61. Center for Human Genetics, University Hospital Leuven, Department of Human Genetics, University of Leuven (KU Leuven), Leuven, Belgium
  62. Department of Pediatrics, Bambino Gesù Children’s Hospital, IRCCS and La Sapienza University, Rome, Italy
  63. Department of Clinical Psychology, Vrije Universiteit Amsterdam, Amsterdam, Netherlands
  64. Center for Human Genetics, University Hospital Leuven, Leuven, Belgium
  65. Department of Neuroscience; Department of Psychiatry, Bambino Gesù Children’s Hospital, IRCCS and Catholic University, Rome, Italy
  66. Department of Psychiatry, The Hospital for Sick Children and the University of Toronto, CA, Toronto, Canada
  67. Department of Epidemiology & Population Health, Albert Einstein College of Medicine, Bronx, NY USA
  68. MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, UK
  69. Division of Human Genetics, Department of Pediatrics, Children’s Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA USA
  70. Department of Genetics, Department of Neurology, Department of Neuroscience, Albert Einstein College of Medicine, Bronx, NY USA
  71. Department of Genetics, Albert Einstein College of Medicine, Bronx, NY USA
  72. Departments of Obstetrics and Gynecology and Pediatrics, Albert Einstein College of Medicine, Bronx, NY USA
  73. Department of Psychiatry, University of Toronto, Toronto General Hospital Research Institute, and Campbell Family Mental Health Research Institute, Toronto, Ontario Canada
Institutions: University of Toronto (Canada); Hospital for Sick Children (Canada); Centre for Applied Genomics (Canada); University Health Network (Canada); Centre for Addiction and Mental Health (Canada); Toronto General Hospital (Canada); Albert Einstein College of Medicine (United States); Toronto General Hospital Research Institute; Campbell Family Mental Health Research Institute (Canada)
Journal: Molecular psychiatry, volume 31, issue 9, pages 4934-4946
Dates: received 16 December 2025; accepted 16 March 2026; published online 15 April 2026; in print 2026
Type: Research article · Language: English
License: CC BY-NC-ND
Identifiers: DOI 10.1038/s41380-026-03574-8 · PMID 41986744 · PMCID PMC13441966 · OpenAlex W7154505758
Open access: hybrid, a free copy (OpenAlex)
Status: code on request
Categories: genetics / omics (modality), human (organism), schizophrenia / psychosis (population)
Methods: Statistics, Smoothing, state filtering, decompositions, Machine learning
Keywords: Genetics, Schizophrenia
MeSH: Schizophrenia*, Chromosome Deletion, Chromosomes, Human, Pair 22, DiGeorge Syndrome, DNA Repeat Expansion, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Male, Prefrontal Cortex, Tandem Repeat Sequences (* major topic)
Topic: Congenital heart defects research (Molecular Biology, Biochemistry, Genetics and Molecular Biology), according to OpenAlex
Funding: NIMH NIH HHS (U01 MH101722, U01 MH101724, U01 MH101720, U01 MH101719, U01 MH101723)
Citations: not cited yet (Europe PMC); 79 references in the paper

Abstract

The abstract is not reproduced here: the paper's license (CC BY-NC-ND) does not allow it. Read it in the paper, at the publisher or on Europe PMC.

Code

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Code availability statement

The paper has a code availability statement. Its license (CC BY-NC-ND) does not allow reproducing it here; in short, from what the harvester recognized in it:

  • it says that the code is available on request

Read it in the paper: doi.org/10.1038/s41380-026-03574-8.

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Data

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Versions

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Version 1, 29 September 2026: the first record

Recorded: type, language, journal, volume, issue, pages, dates, 8 authors, 2 keywords, 12 MeSH terms, 1 funder, 77 references.

Cite

This paper

Cheng, M., Yin, Y., Engchuan, W., Heung, T., International 22q11.2 Brain Behavior Consortium (IBBC), Morrow, B. E., Bassett, A. S., & Yuen, R. K. C. (2026). Genome-wide tandem repeat expansions modify schizophrenia risk in the presence of a 22q11.2 deletion. Molecular psychiatry, 31(9), 4934-4946. https://doi.org/10.1038/s41380-026-03574-8

BibTeX

@article{cheng2026genome,
author = {Cheng, Muyang and Yin, Yue and Engchuan, Worrawat and Heung, Tracy and {International 22q11.2 Brain Behavior Consortium (IBBC)} and Morrow, Bernice E and Bassett, Anne S and Yuen, Ryan K C},
title = {{Genome-wide tandem repeat expansions modify schizophrenia risk in the presence of a 22q11.2 deletion}},
journal = {Molecular psychiatry},
year = {2026},
month = apr,
volume = {31},
number = {9},
pages = {4934--4946},
publisher = {Springer Nature},
issn = {1359-4184},
doi = {10.1038/s41380-026-03574-8},
url = {https://doi.org/10.1038/s41380-026-03574-8},
pmid = {41986744},
pmcid = {PMC13441966}
}

RIS

TY - JOUR
AU - Cheng, Muyang
AU - Yin, Yue
AU - Engchuan, Worrawat
AU - Heung, Tracy
AU - International 22q11.2 Brain Behavior Consortium (IBBC)
AU - Morrow, Bernice E
AU - Bassett, Anne S
AU - Yuen, Ryan K C
TI - Genome-wide tandem repeat expansions modify schizophrenia risk in the presence of a 22q11.2 deletion
T2 - Molecular psychiatry
J2 - Mol Psychiatry
PY - 2026
DA - 2026/04/15
VL - 31
IS - 9
SP - 4934
EP - 4946
SN - 1359-4184
PB - Springer Nature
DO - 10.1038/s41380-026-03574-8
UR - https://doi.org/10.1038/s41380-026-03574-8
LA - en
ER -

CSL-JSON

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