Evidence map›Paper›PMID 32216802›Full record

ArticleBMC medical genomics2020

Potential role of genomic imprinted genes and brain developmental related genes in autism.

Jian Li, Xue Lin, Mingya Wang, Yunyun Hu, Kaiyu Xue, Shuanglin Gu, Li Lv, Saijun Huang, Wei Xie

Open access · goldAbstract read
In one paragraph

Article in BMC medical genomics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed, 2 pooled it
1.8field-weighted citation impact, top 15% 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, 2 syntheses or guidelines pooled it, 20 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

9 authors at 4 institutions in 2 countries.

Jian LiKey Laboratory of DGHD, MOE, Institute of Life Sciences, Southeast University, Nanjing, 210096, China. jianlij@gmail.com.ORCID 0000-0003-1259-1381
Xue LinDepartment of Bioinformatics, School of Biomedical Engineering and Informatics, Nanjing Medical University, Nanjing, 211166, China.
Mingya WangKey Laboratory of DGHD, MOE, Institute of Life Sciences, Southeast University, Nanjing, 210096, China.
Yunyun HuKey Laboratory of DGHD, MOE, Institute of Life Sciences, Southeast University, Nanjing, 210096, China.
Kaiyu XueKey Laboratory of DGHD, MOE, Institute of Life Sciences, Southeast University, Nanjing, 210096, China.
Shuanglin GuKey Laboratory of DGHD, MOE, Institute of Life Sciences, Southeast University, Nanjing, 210096, China.
Li LvKey Laboratory of DGHD, MOE, Institute of Life Sciences, Southeast University, Nanjing, 210096, China.
Saijun HuangFoshan Women and Children Hospital, Foshan, 528000, China.
Wei XieKey Laboratory of DGHD, MOE, Institute of Life Sciences, Southeast University, Nanjing, 210096, China. wei.xie@seu.edu.cn.
Southeast University · CNFoshan Maternity and Child Health Care Hospital · CNNanjing Medical University · CNSoutheast University · BD

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAutism is a complex disease involving both environmental and genetic factors. Recent efforts have implicated the correlation of genomic imprinting and brain development in autism, however the pathogenesis of autism is not completely clear. Here, we used bioinformatic tools to provide a comprehensive analysis of the autism-related genes, genomic imprinted genes and the spatially and temporally differentially expressed genes of human brain, aiming to explore the relationship between autism, brain development and genomic imprinting.

methodsThis study analyzed the distribution correlation between autism-related genes and imprinted genes on chromosomes using sliding windows and statistical methods. The normal brains' gene expression microarray data were reanalyzed to construct a spatio-temporal coordinate system of gene expression during brain development. Finally, we intersected the autism-related genes, imprinted genes and brain spatio-temporally differentially expressed genes for further analysis to find the major biological processes that these genes involved.

resultsWe found a positive correlation between the autism-related genes' and imprinted genes' distribution on chromosomes. Through the analysis of the normal brain microarray data, we constructed a spatio-temporal coordinate system of gene expression during human brain development, and obtained 13 genes that are differentially expressed in the process of brain development, which are both autism-related genes and imprinted genes. Furthermore, enrichment analysis illustrated that these genes are mainly involved in the biological processes, such as gamma-aminobutyric acid signaling pathway, neuron recognition, learning or memory, and regulation of synaptic transmission. Bioinformatic analysis implied that imprinted genes regulate the development and behavior of the brain. And its own mutation or changes in the epigenetic modification state of the imprinted control region could lead to some diseases, indicating that imprinted genes and brain development play an important role in diagnosis and prognosis of autism.

conclusionThis study systematically correlates brain development and genomic imprinting with autism, which provides a new perspective for the study of genetic mechanisms of autism, and selected the potential candidate biomarkers for early diagnosis of autism in clinic.

Indexed as

Autistic DisorderBrainChromosomes, HumanDatabases, GeneticGene Expression RegulationGenomic ImprintingComputational BiologyGenomicsHumansMaleAutismBrain developmentImprinted gene

Identifiers

PMID32216802
PMCPMC7099798
OpenAlexW3013673258

What OpenQuestion holds

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LicenceCC BY
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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.