Evidence map›Paper›PMID 42728386›Full record

ArticleNature genetics2026

Contribution of copy number variants to schizophrenia in East Asian populations.

Yu Chen, Qidi Feng, Max Lam, Mingrui Yu, Yaoyao Sun, Cong Huai, Bimal Jana, Jack Fu, Calwing Liao, Robert Ye and 27 more

Abstract read
PubMed Publisher
In one paragraph

Article in Nature genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

37 authors.

Yu Chen *Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Qidi Feng *Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Max Lam *Institute of Mental Health, Singapore, Singapore.ORCID http://orcid.org/0000-0002-4256-7844
Mingrui Yu *Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-2749-0690
Yaoyao SunPeking University Sixth Hospital, Beijing, China.ORCID http://orcid.org/0000-0001-8096-3568
Cong HuaiBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, China.ORCID http://orcid.org/0000-0002-5946-3179
Bimal JanaCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Jack FuCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0003-4152-5471
Calwing LiaoStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Robert YeAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0009-0007-4947-9672
Soyeon KimStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Justin D TubbsStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-6671-6816
Omar ShantaDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.
Bhooma ThiruvahindrapuramThe Centre for Applied Genomics, The Hospital for Sick Children, Peter Gilgan Centre for Research and Learning, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0003-1128-008X
Yawen JenInstitute of Epidemiology and Preventive Medicine, College of Public Health, National Taiwan University, Taipei, Taiwan.ORCID http://orcid.org/0000-0001-6523-1799
Guorui ZhaoPeking University Sixth Hospital, Beijing, China.ORCID http://orcid.org/0000-0003-3097-3797
Jess WangStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Stanley Global Asia Initiatives
Juan XuDigital Health China Technologies Co., Beijing, China.
Wenzhao ShiDigital Health China Technologies Co., Beijing, China.
Stephen W SchererThe Centre for Applied Genomics, The Hospital for Sick Children, Peter Gilgan Centre for Research and Learning, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-8326-1999
Feng ZhuDepartment of Psychiatry, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China.ORCID http://orcid.org/0000-0003-3986-8803
Chih-Min LiuDepartment of Psychiatry, National Taiwan University Hospital, Taipei, Taiwan.ORCID http://orcid.org/0000-0001-7016-8990
Zhenglin GuoStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Daniel HowriganStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-7721-4838
Mark DalyStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-0949-8752
Benjamin M NealeStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-1513-6077
Akira SawaDepartments of Psychiatry, Neuroscience, Biomedical Engineering, Genetic Medicine and Mental Health, Johns Hopkins University School of Medicine and Bloomberg School of Public Health, Baltimore, MD, USA.ORCID http://orcid.org/0000-0003-1401-3008
Jonathan SebatDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.
Michael E TalkowskiStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-2889-0992
Jinsong TangDepartment of Psychiatry, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, China. tangjinsong@zju.edu.cn.ORCID http://orcid.org/0000-0003-3796-1377
Xiancang MaDepartment of Psychiatry, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China. maxiancang@163.com.ORCID http://orcid.org/0000-0002-7826-305X
Wei J ChenInstitute of Epidemiology and Preventive Medicine, College of Public Health, National Taiwan University, Taipei, Taiwan. wjchen@ntu.edu.tw.ORCID http://orcid.org/0000-0001-5899-5870
Shengying QinBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, China. chinsir@sjtu.edu.cn.ORCID http://orcid.org/0000-0002-8458-5960
Weihua YuePeking University Sixth Hospital, Beijing, China. dryue@bjmu.edu.cn.ORCID http://orcid.org/0000-0002-1201-8465
Tian GeStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. tge1@mgh.harvard.edu.ORCID http://orcid.org/0000-0003-4785-4444
Hailiang HuangStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. hhuang@broadinstitute.org.ORCID http://orcid.org/0000-0003-1461-5762

Funding

Clinical Diagnostic Sequencing of Structural VariationR01HD081256 · NICHD · MASSACHUSETTS GENERAL HOSPITAL · PI TALKOWSKI, MICHAEL E · 2015 to 2025
$7.2M
Scalable tool and comprehensive maps to interpret structural variation across the neuropsychiatric spectrumR01MH115957 · NIMH · BROAD INSTITUTE, INC. · PI TALKOWSKI, MICHAEL E · 2019 to 2025
$5.4M
NICHD NIH HHS R01 HD081256NIMH NIH HHS R01 MH115957
6 · The paper itself

Abstract

Studies on schizophrenia-associated rare copy number variants (CNVs) have predominantly focused on people of European (EUR) ancestry. Here we present a rare CNV study of schizophrenia in East Asian (EAS) populations, comprising 20,903 cases and 23,258 controls. We observed a significantly elevated genome-wide rare CNV burden in EAS cases compared with controls. Cross-population comparisons showed largely consistent rare CNV effects on schizophrenia risk. In the EAS sample, we identified nine genome-wide-significant schizophrenia-associated rare CNV loci. Meta-analysis with EUR data yielded 14 significant loci, including 8 that reached genome-wide significance for the first time. Genes within these 14 loci were significantly less tolerant to loss-of-function variants than genes in other CNV loci. The new rare CNVs associated with schizophrenia in EAS populations showed higher carrier frequencies in EAS than in EUR populations (0.38% versus 0.0017%). Overall, this study underscores the importance of increasing population diversity to fully capture the genetic underpinnings of schizophrenia.

Identifiers

PMID42728386

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.