Evidence map›Paper›PMID 28427329›Full record

ArticleBMC genomics2017

Cross-disorder comparative analysis of comorbid conditions reveals novel autism candidate genes.

Leticia Diaz-Beltran, Francisco J Esteban, Maya Varma, Alp Ortuzk, Maude David, Dennis P Wall

Abstract read
In one paragraph

Article in BMC genomics, 2017. 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
–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

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

  1. Pooled it
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  10. Autism spectrum disorder in children with Type 1 diabetes.Diabetic medicine : a journal of the British Diabetic Association · 2019
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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

6 authors.

Leticia Diaz-BeltranDivision of Systems Medicine, Department of Pediatrics, School of Medicine, Stanford University, 1265 Welch Road, Stanford, CA, 94305-5488, USA.
Francisco J EstebanSystems Biology Unit, Department of Experimental Biology, University of Jaén, Jaén, Spain.
Maya VarmaDivision of Systems Medicine, Department of Pediatrics, School of Medicine, Stanford University, 1265 Welch Road, Stanford, CA, 94305-5488, USA.
Alp OrtuzkDivision of Systems Medicine, Department of Pediatrics, School of Medicine, Stanford University, 1265 Welch Road, Stanford, CA, 94305-5488, USA.
Maude DavidDivision of Systems Medicine, Department of Pediatrics, School of Medicine, Stanford University, 1265 Welch Road, Stanford, CA, 94305-5488, USA.
Dennis P WallDivision of Systems Medicine, Department of Pediatrics, School of Medicine, Stanford University, 1265 Welch Road, Stanford, CA, 94305-5488, USA. dpwall@stanford.edu.

Funding

Characterizing the genetic systems of autism through multi-disease analysisR01MH090611 · NIMH · STANFORD UNIVERSITY · PI WALL, DENNIS PAUL · 2010 to 2014
$2.8M
NIMH NIH HHS R01 MH090611
6 · The paper itself

Abstract

backgroundNumerous studies have highlighted the elevated degree of comorbidity associated with autism spectrum disorder (ASD). These comorbid conditions may add further impairments to individuals with autism and are substantially more prevalent compared to neurotypical populations. These high rates of comorbidity are not surprising taking into account the overlap of symptoms that ASD shares with other pathologies. From a research perspective, this suggests common molecular mechanisms involved in these conditions. Therefore, identifying crucial genes in the overlap between ASD and these comorbid disorders may help unravel the common biological processes involved and, ultimately, shed some light in the understanding of autism etiology.

resultsIn this work, we used a two-fold systems biology approach specially focused on biological processes and gene networks to conduct a comparative analysis of autism with 31 frequently comorbid disorders in order to define a multi-disorder subcomponent of ASD and predict new genes of potential relevance to ASD etiology. We validated our predictions by determining the significance of our candidate genes in high throughput transcriptome expression profiling studies. Using prior knowledge of disease-related biological processes and the interaction networks of the disorders related to autism, we identified a set of 19 genes not previously linked to ASD that were significantly differentially regulated in individuals with autism. In addition, these genes were of potential etiologic relevance to autism, given their enriched roles in neurological processes crucial for optimal brain development and function, learning and memory, cognition and social behavior.

conclusionsTaken together, our approach represents a novel perspective of autism from the point of view of related comorbid disorders and proposes a model by which prior knowledge of interaction networks may enlighten and focus the genome-wide search for autism candidate genes to better define the genetic heterogeneity of ASD.

Indexed as

ComorbiditySystems BiologyAutism Spectrum DisorderGene Expression ProfilingHumansAutism sibling disordersAutism Spectrum DisorderComparative network analysisGene set enrichmentProcess enrichmentSystems biology

Identifiers

PMID28427329
PMCPMC5399393

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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.