Evidence map›Paper›PMID 32001654›Full record

ArticleScience (New York, N.Y.)2020

Genetics of schizophrenia in the South African Xhosa.

S Gulsuner, D J Stein, E S Susser, G Sibeko, A Pretorius, T Walsh, L Majara, M M Mndini, S G Mqulwana, O A Ntola and 18 more

Open access · greenAbstract read
In one paragraph

Article in Science (New York, N.Y.), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
68citing papers in PubMed, 5 pooled it
18.2field-weighted citation impact, top 1% of its field
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

68 citing papers in PubMed, 5 syntheses or guidelines pooled it, 119 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
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  4. Pooled it
  5. Pooled it
  6. Neuropsychiatry genetics in Africa.Nature communications · 2026
    Review
  7. Article
  8. Review
  9. Alpha psychiatry · 2026
    Article
  10. Loss of function of the chromatin remodeling geneProceedings of the National Academy of Sciences of the United States of America · 2026
    Article
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  12. Review
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  14. Review
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8 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

28 authors at 8 institutions in 2 countries.

S GulsunerDepartment of Medicine, Department of Genome Sciences, and Department of Psychiatry, University of Washington, Seattle, WA, USA.ORCID 0000-0002-3897-1238
D J SteinDepartment of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa.ORCID 0000-0001-7218-7810
E S SusserMailman School of Public Health, Columbia University, New York, NY, USA.ORCID 0000-0001-7665-4826
G SibekoDepartment of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa.ORCID 0000-0002-7242-0878
A PretoriusDepartment of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa.
T WalshDepartment of Medicine, Department of Genome Sciences, and Department of Psychiatry, University of Washington, Seattle, WA, USA.ORCID 0000-0002-8875-0310
L MajaraDivision of Human Genetics, University of Cape Town, Cape Town, South Africa.
M M MndiniDepartment of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa.
S G MqulwanaDepartment of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa.
O A NtolaDepartment of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa.
S CasadeiDepartment of Medicine, Department of Genome Sciences, and Department of Psychiatry, University of Washington, Seattle, WA, USA.ORCID 0000-0003-2619-5662
L L NgqengeleleDepartment of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa.ORCID 0000-0002-3084-1631
V KorchinaHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-9069-8806
C van der MerweDivision of Human Genetics, University of Cape Town, Cape Town, South Africa.ORCID 0000-0003-0198-2184
M MalanDepartment of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa.ORCID 0000-0003-0783-8714
K M FaderMailman School of Public Health, Columbia University, New York, NY, USA.ORCID 0000-0001-8323-9479
M FengMailman School of Public Health, Columbia University, New York, NY, USA.ORCID 0000-0002-2546-4296
E WilloughbyDepartment of Psychology, University of Minnesota, Minneapolis, MN, USA.ORCID 0000-0001-7559-1544
D MuznyHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-3055-0359
A BaldingerDepartment of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa.ORCID 0000-0003-1874-7172
H F AndrewsMailman School of Public Health, Columbia University, New York, NY, USA.
R C GurDepartment of Psychiatry, University of Pennsylvania, Philadelphia, PA, USA.ORCID 0000-0002-9657-1996
R A GibbsHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-1356-5698
Z ZingelaDepartment of Psychology, Rhodes University, Makhanda (Grahamstown), South Africa.ORCID 0000-0002-3425-1145
M NagdeeDepartment of Psychology, Rhodes University, Makhanda (Grahamstown), South Africa.ORCID 0000-0001-8227-5611
R S RamesarDivision of Human Genetics, University of Cape Town, Cape Town, South Africa.ORCID 0000-0001-5688-1634
M-C KingDepartment of Medicine, Department of Genome Sciences, and Department of Psychiatry, University of Washington, Seattle, WA, USA. mcking@u.washington.edu.ORCID 0000-0001-9426-1743
J M McClellanDepartment of Medicine, Department of Genome Sciences, and Department of Psychiatry, University of Washington, Seattle, WA, USA.ORCID 0000-0002-0101-1073
University of Cape Town · ZAUniversity of Washington · USBaylor College of Medicine · USNew York Psychoanalytic Society and Institute · USRhodes University · ZAColumbia University · USUniversity of Minnesota · USUniversity of Pennsylvania · US

Funding

Genomic Architecture of Common Disease in Diverse Populations: WGS of Ongoing Hemorrhagic Stroke Study SupplementUM1HG008898 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2016 to 2020
$77.0M
1/3 Genomics of Schizophrenia in the South African XhosaU01MH125054 · NIMH · UNIVERSITY OF WASHINGTON · PI GULSUNER, SULEYMAN, KING, MARY-CLAIRE · 2021 to 2025
$9.5M
3/3 GENOMICS OF SCHIZOPHRENIA IN THE SOUTH AFRICAN XHOSAU01MH096754 · NIMH · UNIVERSITY OF CAPE TOWN · PI STEIN, DAN JOSEPH · 2013 to 2017
$3.2M
Whole Genome Sequencing and Transcriptome Analysis in Schizophrenia Cases and Controls from the Xhosa PopulationU01MH096844 · NIMH · UNIVERSITY OF WASHINGTON · PI KING, MARY-CLAIRE, MCCLELLAN, JON M · 2013 to 2017
$2.7M
1/3 - Genomics of Schizophrenia in the South Africa XhosaU01MH096756 · NIMH · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SUSSER, EZRA S. · 2013 to 2017
$1.8M
NHGRI NIH HHS UM1 HG008898NIMH NIH HHS U01 MH096754NIMH NIH HHS U01 MH096756NIMH NIH HHS U01 MH096844NIMH NIH HHS U01 MH125054
6 · The paper itself

Abstract

Africa, the ancestral home of all modern humans, is the most informative continent for understanding the human genome and its contribution to complex disease. To better understand the genetics of schizophrenia, we studied the illness in the Xhosa population of South Africa, recruiting 909 cases and 917 age-, gender-, and residence-matched controls. Individuals with schizophrenia were significantly more likely than controls to harbor private, severely damaging mutations in genes that are critical to synaptic function, including neural circuitry mediated by the neurotransmitters glutamine, γ-aminobutyric acid, and dopamine. Schizophrenia is genetically highly heterogeneous, involving severe ultrarare mutations in genes that are critical to synaptic plasticity. The depth of genetic variation in Africa revealed this relationship with a moderate sample size and informed our understanding of the genetics of schizophrenia worldwide.

Indexed as

Age FactorsAutistic DisorderBipolar DisorderDopamineFemalegamma-Aminobutyric AcidGenetic VariationGlutamineHumansMaleMutationNeural PathwaysSchizophreniaSex FactorsSouth AfricaSynapsesDopaminegamma-Aminobutyric AcidGlutamine

Identifiers

PMID32001654
PMCPMC9558321
OpenAlexW3004013987

What OpenQuestion holds

Textmetadata
LicenceTDM
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.