Evidence map›Paper›PMID 38187620›Full record

ArticlebioRxiv : the preprint server for biology2023

A Functional Schizophrenia-associated genetic variant near the

Marah H Wahbeh, Rachel J Boyd, Christian Yovo, Bailey Rike, Andrew S McCallion, Dimitrios Avramopoulos

Open access · greenAbstract readPreprint
In one paragraph

Article in bioRxiv : the preprint server for biology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

6 authors at 1 institution in 1 country.

Marah H WahbehMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Rachel J BoydMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.ORCID 0000-0001-6544-8541
Christian YovoMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Bailey RikeMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.ORCID 0009-0005-9614-8185
Andrew S McCallionMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.ORCID 0000-0002-0016-8466
Dimitrios AvramopoulosMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.ORCID 0000-0003-1492-9104
Johns Hopkins University · US

Funding

Predoctoral Training Program in Human GeneticsT32GM007814 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 1985 to 2021
$10.6M
SZ-associated loci: Functional consequences and treatment opportunitiesR01MH113215 · NIMH · JOHNS HOPKINS UNIVERSITY · PI AVRAMOPOULOS, DIMITRIOS · 2018 to 2021
$3.8M
Robust Methods for Polygenic Analysis to Inform Disease Etiology and Enhance Risk PredictionR01HG010480 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI CHATTERJEE, NILANJAN · 2019 to 2023
$2.8M
Understanding GWAS signals: functional variants or functional haplotypes?R21MH122936 · NIMH · JOHNS HOPKINS UNIVERSITY · PI AVRAMOPOULOS, DIMITRIOS · 2020 to 2020
$450k
Determination of the clinical relevance of Parkinson disease-associated intronic enhancer of the alpha-synuclein gene, in a novel mouse deletion modelR21NS128604 · NINDS · JOHNS HOPKINS UNIVERSITY · PI KO, HANSEOK, MCCALLION, ANDREW S · 2023 to 2024
$450k
NHGRI NIH HHS R01 HG010480NIGMS NIH HHS T32 GM007814NIMH NIH HHS R01 MH113215NIMH NIH HHS R21 MH122936NINDS NIH HHS R21 NS128604
6 · The paper itself

Abstract

Recent collaborative genome wide association studies (GWAS) have identified >200 independent loci contributing to risk for schizophrenia (SCZ). The genes closest to these loci have diverse functions, supporting the potential involvement of multiple relevant biological processes; yet there is no direct evidence that individual variants are functional or directly linked to specific genes. Nevertheless, overlap with certain epigenetic marks suggest that most GWAS-implicated variants are regulatory. Based on the strength of association with SCZ and the presence of regulatory epigenetic marks, we chose one such variant near

Indexed as

ADGRB1axonsCRISPRgene regulationgenetic associationgenome editinginduced pluripotent stem cellsneurodevelopmentneuronspsychosisschizophreniasynapseTSNARE1zebrafish

Identifiers

PMID38187620
PMCPMC10769312
OpenAlexW4389977290

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.