Evidence map›Paper›PMID 28540026›Full record

SynthesisMolecular autism2017

Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium

Open access · goldAbstract readMeta-Analysis
In one paragraph

Synthesis in Molecular autism, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 312 papers, 10 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
312citing papers in PubMed, 10 pooled it
65.2field-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

312 citing papers in PubMed, 10 syntheses or guidelines pooled it, 636 citations in OpenAlex.

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  11. Article
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  14. HiFiMAP: High-resolution fast identity-by-descent mapping test.medRxiv : the preprint server for health sciences · 2026
    Article
  15. Article
  16. Genetic insights on the mechanisms of human cortical folding.bioRxiv : the preprint server for biology · 2026
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252 more citing papers are in PubMed but not listed here.

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

1 author.

Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium

Funding

Autism Genetics, Phase II: Increasing Representation of Human DiversityR01MH100027 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H · 2013 to 2024
$31.7M
Transgenic Mouse and Biobank CoreP01CA095616 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI BRENNAN, CAMERON · 2003 to 2012
$20.3M
Using Technology to Enhance Cancer Communication and Improve Clinical OutcomesP50CA095817 · NCI · UNIVERSITY OF WISCONSIN-MADISON · PI GUSTAFSON, DAVID H · 2003 to 2012
$19.3M
A Comprehensive Approach to Identification of Autism Susceptibility GenesR01MH081754 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H · 2008 to 2012
$14.6M
Center for Genomic and Phenomic Studies in AutismU24MH081810 · NIMH · UNIVERSITY OF SOUTHERN CALIFORNIA · PI LAJONCHERE, CLARA M · 2007 to 2011
$8.3M
Centers for Autism & Develop Disabilities Resarch & Epidemiol:A Case-Cohort StudyU10DD000183 · DD · JOHNS HOPKINS UNIVERSITY · PI FALLIN, M DANIELE · 2006 to 2010
$8.2M
National CADDRE Study: Child Development and AutismU10DD000182 · DD · UNIVERSITY OF PENNSYLVANIA · PI PINTO-MARTIN, JENNIFER A · 2006 to 2010
$5.8M
National CADDRE Study: Child Development and AutismU10DD000181 · DD · KAISER FOUNDATION RESEARCH INSTITUTE · PI CROEN, LISA A · 2006 to 2010
$5.6M
Population-Based Autism Genetics & Environment StudyR01MH097849 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BUXBAUM, JOSEPH D. · 2014 to 2022
$5.2M
Colorado CADDRE: A Case-Cohort StudyU10DD000180 · DD · COLORADO STATE DEPT/PUB HLTH & ENVIRONMT · PI MILLER, LISA ANN · 2006 to 2010
$5.1M
North Carolina Ctr for Autism & Development Disabilities Research & EpidemiologyU10DD000184 · DD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI DANIELS, JULIE L · 2006 to 2010
$4.7M
2/7 Psychiatric Genomics Consortium: Finding Actionable VariationU01MH109539 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI DALY, MARK JOSEPH · 2016 to 2020
$4.7M
CIHRMedical Research Council MR/L010305/1Medical Research Council MR/P005748/1NCBDD CDC HHS U01 DD000498NCBDD CDC HHS U10 DD000180NCBDD CDC HHS U10 DD000181NCBDD CDC HHS U10 DD000182NCBDD CDC HHS U10 DD000183NCBDD CDC HHS U10 DD000184NCI NIH HHS P01 CA095616NCI NIH HHS P50 CA095817NCI NIH HHS R01 CA094143NIMH NIH HHS K99 MH101367NIMH NIH HHS R00 MH101367NIMH NIH HHS R01 MH060007NIMH NIH HHS R01 MH081754NIMH NIH HHS R01 MH094293NIMH NIH HHS R01 MH097849NIMH NIH HHS R01 MH100027NIMH NIH HHS R56 MH097849NIMH NIH HHS U01 MH094421NIMH NIH HHS U01 MH094432NIMH NIH HHS U01 MH109514NIMH NIH HHS U01 MH109539NIMH NIH HHS U24 MH081810Wellcome Trust
6 · The paper itself

Abstract

backgroundOver the past decade genome-wide association studies (GWAS) have been applied to aid in the understanding of the biology of traits. The success of this approach is governed by the underlying effect sizes carried by the true risk variants and the corresponding statistical power to observe such effects given the study design and sample size under investigation. Previous ASD GWAS have identified genome-wide significant (GWS) risk loci; however, these studies were of only of low statistical power to identify GWS loci at the lower effect sizes (odds ratio (OR) <1.15).

methodsWe conducted a large-scale coordinated international collaboration to combine independent genotyping data to improve the statistical power and aid in robust discovery of GWS loci. This study uses genome-wide genotyping data from a discovery sample (7387 ASD cases and 8567 controls) followed by meta-analysis of summary statistics from two replication sets (7783 ASD cases and 11359 controls; and 1369 ASD cases and 137308 controls).

resultsWe observe a GWS locus at 10q24.32 that overlaps several genes including

conclusionsThis study is an important step in the ongoing endeavour to identify the loci which underpin the common variant signal in ASD. In addition to novel GWS loci, we have identified a significant genetic correlation with schizophrenia and association of ASD with several neurodevelopmental-related genes such as

Indexed as

Genetic LociGenetic Predisposition to DiseaseAdaptor Proteins, Signal TransducingAutism Spectrum DisorderCarrier ProteinsCase-Control StudiesChromosomes, Human, Pair 10FemaleForkhead Transcription FactorsGene ExpressionGenome-Wide Association StudyHomeodomain ProteinsHumansMaleMembrane ProteinsPlasma Membrane Calcium-Transporting ATPasesAdaptor Proteins, Signal TransducingATP2B2 protein, humanCarrier ProteinsCUEDC2 protein, humanForkhead Transcription FactorsFOXP1 protein, humanhomeobox protein PITX3Homeodomain ProteinsMembrane ProteinsPlasma Membrane Calcium-Transporting ATPasesRepressor ProteinsTranscription FactorsAutism spectrum disorderGene-set analysisGenetic correlationGenome-wide association studyHeritabilityMeta-analysisNeurodevelopmentSchizophrenia

Identifiers

PMID28540026
PMCPMC5441062
OpenAlexW2623056867

What OpenQuestion holds

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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.