Evidence map›Paper›PMID 37857935›Full record

ArticleNature genetics2023

Integrative analyses highlight functional regulatory variants associated with neuropsychiatric diseases.

Margaret G Guo, David L Reynolds, Cheen E Ang, Yingfei Liu, Yang Zhao, Laura K H Donohue, Zurab Siprashvili, Xue Yang, Yongjin Yoo, Smarajit Mondal and 18 more

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
6.3field-weighted citation impact, top 3% 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

15 citing papers in PubMed, 21 citations in OpenAlex.

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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

28 authors at 4 institutions in 2 countries.

Margaret G GuoStanford Program in Biomedical Informatics, Stanford University, Stanford, CA, USA.ORCID 0000-0001-7713-3846
David L ReynoldsProgram in Epithelial Biology, Stanford University, Stanford, CA, USA.ORCID 0000-0001-5929-3475
Cheen E AngDepartment of Pathology, Stanford University, Stanford, CA, USA.ORCID 0000-0002-9050-6122
Yingfei LiuInstitute for Stem Cell Biology & Regenerative Medicine, Stanford University, Stanford, CA, USA.ORCID 0000-0003-2303-576X
Yang ZhaoProgram in Epithelial Biology, Stanford University, Stanford, CA, USA.
Laura K H DonohueProgram in Epithelial Biology, Stanford University, Stanford, CA, USA.ORCID 0000-0002-1346-2840
Zurab SiprashviliProgram in Epithelial Biology, Stanford University, Stanford, CA, USA.
Xue YangProgram in Epithelial Biology, Stanford University, Stanford, CA, USA.
Yongjin YooInstitute for Stem Cell Biology & Regenerative Medicine, Stanford University, Stanford, CA, USA.
Smarajit MondalProgram in Epithelial Biology, Stanford University, Stanford, CA, USA.ORCID 0000-0002-2883-2728
Audrey HongProgram in Epithelial Biology, Stanford University, Stanford, CA, USA.
Jessica KainDepartment of Genetics, Stanford University, Stanford, CA, USA.ORCID 0000-0002-0189-040X
Lindsey MeserveyDepartment of Biology, Stanford University, Stanford, CA, USA.
Tania FaboProgram in Epithelial Biology, Stanford University, Stanford, CA, USA.ORCID 0000-0002-8987-0672
Ibtihal ElfakiProgram in Epithelial Biology, Stanford University, Stanford, CA, USA.ORCID 0000-0002-9951-9974
Laura N KellmanProgram in Epithelial Biology, Stanford University, Stanford, CA, USA.ORCID 0000-0002-1073-8936
Nathan S AbellDepartment of Genetics, Stanford University, Stanford, CA, USA.
Yash PershadDepartment of Bioengineering, Stanford University, Stanford, CA, USA.ORCID 0000-0002-2282-1403
Vafa BayatBitscopic Inc., Los Angeles, CA, USA.ORCID 0000-0002-1524-0520
Payam EtminaniBitscopic Inc., Los Angeles, CA, USA.
Mark HolodniyPublic Health Surveillance and Research, Department of Veterans Affairs, Washington, DC, USA.ORCID 0000-0002-6655-7982
Daniel H GeschwindProgram in Neurobehavioral Genetics, Semel Institute, UCLA, Los Angeles, CA, USA.ORCID 0000-0003-2896-3450
Stephen B MontgomeryDepartment of Pathology, Stanford University, Stanford, CA, USA.ORCID 0000-0002-5200-3903
Laramie E DuncanDepartment of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA.ORCID 0000-0003-1131-661X
Alexander E UrbanDepartment of Genetics, Stanford University, Stanford, CA, USA.ORCID 0000-0001-9772-933X
Russ B AltmanStanford Program in Biomedical Informatics, Stanford University, Stanford, CA, USA.ORCID 0000-0003-3859-2905
Marius WernigDepartment of Pathology, Stanford University, Stanford, CA, USA.ORCID 0000-0002-5309-515X
Paul A KhavariProgram in Epithelial Biology, Stanford University, Stanford, CA, USA. khavari@stanford.edu.ORCID 0000-0003-0098-4989
Stanford University · USCalifornia Institute for Regenerative Medicine · USVA Palo Alto Health Care System · USVeterans Health Administration · US

Funding

Mapping Molecular and Phenotypic Interactions in Alzheimers DiseaseR01AG066490 · NIA · STANFORD UNIVERSITY · PI MONTGOMERY, STEPHEN · 2020 to 2024
$3.6M
Regulatory Variants in HUMAN SKIN DISEASESR01AR076965 · NIAMS · STANFORD UNIVERSITY · PI PAUL KHAVARI · 2020 to 2026
$3.6M
Atlas of Regulatory Variants in Diseases (ARVID)U24HG010856 · NHGRI · STANFORD UNIVERSITY · PI KHAVARI, PAUL · 2020 to 2024
$3.3M
Identifying causal genetic variants and molecular mechanisms impacting mental healthR01MH125244 · NIMH · STANFORD UNIVERSITY · PI KUNDAJE, ANSHUL, MONTGOMERY, STEPHEN · 2021 to 2025
$3.0M
NHGRI NIH HHS U24 HG010856NIAMS NIH HHS R01 AR076965NIA NIH HHS R01 AG066490NIMH NIH HHS R01 MH125244
6 · The paper itself

Abstract

Noncoding variants of presumed regulatory function contribute to the heritability of neuropsychiatric disease. A total of 2,221 noncoding variants connected to risk for ten neuropsychiatric disorders, including autism spectrum disorder, attention deficit hyperactivity disorder, bipolar disorder, borderline personality disorder, major depression, generalized anxiety disorder, panic disorder, post-traumatic stress disorder, obsessive-compulsive disorder and schizophrenia, were studied in developing human neural cells. Integrating epigenomic and transcriptomic data with massively parallel reporter assays identified differentially-active single-nucleotide variants (daSNVs) in specific neural cell types. Expression-gene mapping, network analyses and chromatin looping nominated candidate disease-relevant target genes modulated by these daSNVs. Follow-up integration of daSNV gene editing with clinical cohort analyses suggested that magnesium transport dysfunction may increase neuropsychiatric disease risk and indicated that common genetic pathomechanisms may mediate specific symptoms that are shared across multiple neuropsychiatric diseases.

Indexed as

Attention Deficit Disorder with HyperactivityAutism Spectrum DisorderBipolar DisorderMajor Depressive DisorderObsessive-Compulsive DisorderSchizophreniaHumans

Identifiers

PMID37857935
PMCPMC10859123
OpenAlexW4387772725

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.