Evidence map›Paper›PMID 34042246›Full record

ArticleAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics2021

Rare protein-coding variants implicate genes involved in risk of suicide death.

Emily DiBlasi, Andrey A Shabalin, Eric T Monson, Brooks R Keeshin, Amanda V Bakian, Anne V Kirby, Elliott Ferris, Danli Chen, Nancy William, Eoin Gaj and 14 more

Open access · greenAbstract read
In one paragraph

Article in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed, 2 pooled it
2.8field-weighted citation impact, top 9% 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

16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 20 citations in OpenAlex.

  1. Genetics and epigenetics of self-injurious thoughts and behaviors: Systematic review of the suicide literature and methodological considerations.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2022
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  14. Rare protein-coding variants implicate genes involved in risk of suicide death.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2021
    Article
  15. Psychoneuroimmunology: The new frontier in suicide research.Brain, behavior, & immunity - health · 2021
    Article
  16. Review
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

24 authors at 6 institutions in 1 country.

Emily DiBlasiDepartment of Psychiatry, University of Utah School of Medicine, Salt Lake City, Utah, USA.ORCID 0000-0002-1266-7297
Andrey A ShabalinDepartment of Psychiatry, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Eric T MonsonDepartment of Psychiatry, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Brooks R KeeshinDepartment of Psychiatry, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Amanda V BakianDepartment of Psychiatry, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Anne V KirbyDepartment of Occupational & Recreational Therapies, University of Utah, Salt Lake City, Utah, USA.
Elliott FerrisDepartment of Neurobiology & Anatomy, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Danli ChenDepartment of Psychiatry, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Nancy WilliamDepartment of Psychiatry, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Eoin GajDepartment of Psychiatry, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Michael KleinHealth Sciences Center Core Research Facility, University of Utah, Salt Lake City, Utah, USA.
Leslie JerominskiDepartment of Psychiatry, University of Utah School of Medicine, Salt Lake City, Utah, USA.
W Brandon CallorUtah State Office of the Medical Examiner, Utah Department of Health, Salt Lake City, Utah, USA.
Erik ChristensenUtah State Office of the Medical Examiner, Utah Department of Health, Salt Lake City, Utah, USA.
Ken R SmithPedigree & Population Resource, Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA.
Alison FraserPedigree & Population Resource, Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA.
Zhe YuPedigree & Population Resource, Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA.
Douglas GrayDepartment of Psychiatry, University of Utah School of Medicine, Salt Lake City, Utah, USA.
PsychChip Investigators of the Psychiatric Genomics Consortium
Nicola J CampDepartment of Internal Medicine, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Eli A StahlPamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Qingqin S LiNeuroscience Data Science, Janssen Research & Development LLC, Titusville, New Jersey, USA.
Anna R DochertyDepartment of Psychiatry, University of Utah School of Medicine, Salt Lake City, Utah, USA.ORCID 0000-0001-7139-7007
Hilary CoonDepartment of Psychiatry, University of Utah School of Medicine, Salt Lake City, Utah, USA.ORCID 0000-0002-8877-5446
University of Utah · USUtah Department of Health · USBroad Institute · USIntermountain Healthcare · USJanssen (United States) · USVirginia Commonwealth University · US

Funding

Utah Center for Clinical and Translational ScienceUL1TR002538 · NCATS · UNIVERSITY OF UTAH · PI HESS, RACHEL, MAJERSIK, JENNIFER JUHL · 2018 to 2022
$26.0M
UNIVERSITY OF UTAH CENTER FOR CLINICAL AND TRANSLATIONAL SCIENCE-UL1: BPCAUL1RR025764 · NCRR · UNIVERSITY OF UTAH · PI MCCLAIN, DONALD A. · 2008 to 2011
$19.4M
Prediction of suicide death using EHR and polygenic risk scoresR01MH123489 · NIMH · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI COON, HILARY · 2020 to 2025
$4.2M
Genetic analysis of high-risk Utah suicide pedigreesR01MH099134 · NIMH · UNIVERSITY OF UTAH · PI COON, HILARY · 2013 to 2017
$3.9M
Genome-Wide Association Analysis of Suicide DeathR01MH123619 · NIMH · UNIVERSITY OF UTAH · PI DOCHERTY, ANNA R. · 2020 to 2024
$3.2M
Genetic risk discovery using WGS from a population-based resource of 10,000 suicide deaths with DNAR01MH122412 · NIMH · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Hilary Coon · 2020 to 2026
$2.7M
Modeling Dimensionality and Genetic Heterogeneity in SchizophreniaK01MH109765 · NIMH · VIRGINIA COMMONWEALTH UNIVERSITY · PI DOCHERTY, ANNA R. · 2016 to 2019
$675k
Participatory Research for Suicide Prevention in AutismK23MH123934 · NIMH · UNIVERSITY OF UTAH · PI KIRBY, ANNE V · 2021 to 2024
$650k
Integrating Genomic and Environmental Perspectives on Internalizing DisordersK01MH093731 · NIMH · VIRGINIA COMMONWEALTH UNIVERSITY · PI ADKINS, DANIEL E · 2011 to 2015
$649k
NCATS NIH HHS UL1 TR002538NCRR NIH HHS UL1 RR025764NIMH NIH HHS K01 MH093731NIMH NIH HHS K01MH093731NIMH NIH HHS K23 MH123934NIMH NIH HHS R01 MH099134NIMH NIH HHS R01MH099134NIMH NIH HHS R01 MH122412NIMH NIH HHS R01MH122412NIMH NIH HHS R01 MH123489NIMH NIH HHS R01MH123489NIMH NIH HHS R01 MH123619
6 · The paper itself

Abstract

Identification of genetic factors leading to increased risk of suicide death is critical to combat rising suicide rates, however, only a fraction of the genetic variation influencing risk has been accounted for. To address this limitation, we conducted the first comprehensive analysis of rare genetic variation in suicide death leveraging the largest suicide death biobank, the Utah Suicide Genetic Risk Study (USGRS). We conducted a single-variant association analysis of rare (minor allele frequency <1%) putatively functional single-nucleotide polymorphisms (SNPs) present on the Illumina PsychArray genotyping array in 2,672 USGRS suicide deaths of non-Finnish European (NFE) ancestry and 51,583 NFE controls from the Genome Aggregation Database. Secondary analyses used an independent control sample of 21,324 NFE controls from the Psychiatric Genomics Consortium. Five novel, high-impact, rare SNPs were identified with significant associations with suicide death (SNAPC1, rs75418419; TNKS1BP1, rs143883793; ADGRF5, rs149197213; PER1, rs145053802; and ESS2, rs62223875). 119 suicide decedents carried these high-impact SNPs. Both PER1 and SNAPC1 have other supporting gene-level evidence of suicide risk, and psychiatric associations exist for PER1 (bipolar disorder, schizophrenia), and for TNKS1BP1 and ESS2 (schizophrenia). Three of the genes (PER1, TNKS1BP1, and ADGRF5), together with additional genes implicated by genome-wide association studies on suicidal behavior, showed significant enrichment in immune system, homeostatic and signal transduction processes. No specific diagnostic phenotypes were associated with the subset of suicide deaths with the identified rare variants. These findings suggest an important role for rare variants in suicide risk and implicate genes and gene pathways for targeted replication.

Indexed as

Genetic Predisposition to DiseaseSuicideGenome-Wide Association StudyHumansNuclear ProteinsPeriod Circadian ProteinsPolymorphism, Single NucleotideReceptors, G-Protein-CoupledTelomeric Repeat Binding Protein 1Transcription FactorsADGRF5 protein, humanESS2 protein, humanNuclear ProteinsPER1 protein, humanPeriod Circadian ProteinsReceptors, G-Protein-CoupledSNAPC1 protein, humanTelomeric Repeat Binding Protein 1TNKS1BP1 protein, humanTranscription Factorsgenetic riskrare genetic variationsuicide

Identifiers

PMID34042246
PMCPMC9292859
OpenAlexW3164708777

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Registered trials

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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.