Evidence map›Paper›PMID 26398136›Full record

ArticlePloS one2015

Genome-Wide Association Study for Autism Spectrum Disorder in Taiwanese Han Population.

Po-Hsiu Kuo, Li-Chung Chuang, Mei-Hsin Su, Chia-Hsiang Chen, Chien-Hsiun Chen, Jer-Yuarn Wu, Chung-Jen Yen, Yu-Yu Wu, Shih-Kai Liu, Miao-Chun Chou and 4 more

Abstract read
In one paragraph

Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.

0numbers the graph read from it
0cells of the map it votes in
21citing 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

21 citing papers in PubMed.

  1. Effects ofNutrients · 2019
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  9. Peripheral Expression ofPsychiatry and clinical psychopharmacology · 2021
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  12. The Role of Copy Number Variations andMolecular syndromology · 2021
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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

14 authors.

Po-Hsiu KuoInstitute of Epidemiology and Preventive Medicine, College of Public Health, National Taiwan University, Taipei, Taiwan; Research Center for Genes, Environment and Human Health, National Taiwan University, Taipei, Taiwan.
Li-Chung ChuangDepartment of Nursing, Cardinal Tien Junior College of Healthcare & Management, I-Lan, Taiwan.
Mei-Hsin SuInstitute of Epidemiology and Preventive Medicine, College of Public Health, National Taiwan University, Taipei, Taiwan.
Chia-Hsiang ChenDepartment of Psychiatry, Chang Gung Memorial Hospital-Linkou, Taoyuan, Taiwan; Department and Graduate Institute of Biomedical Sciences, Chang Gung University, Taoyuan, Taiwan.
Chien-Hsiun ChenInstitute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
Jer-Yuarn WuInstitute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
Chung-Jen YenDepartment of Internal Medicine, National Taiwan University Hospital and College of Medicine, Taipei, Taiwan.
Yu-Yu WuDepartment of Psychiatry, Chang Gung Memorial Hospital-Linkou, Taoyuan, Taiwan.
Shih-Kai LiuDepartment of Child and Adolescent Psychiatry, Taoyaun Psychiatric Center, Ministry of Health and Welfare, Taoyuan, Taiwan.
Miao-Chun ChouDepartment of Child Psychiatry, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Taoyuan, Taiwan.
Wen-Jiun ChouDepartment of Child Psychiatry, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Taoyuan, Taiwan.
Yen-Nan ChiuDepartment of Psychiatry, National Taiwan University Hospital and College of Medicine, Taipei, Taiwan.
Wen-Che TsaiDepartment of Psychiatry, National Taiwan University Hospital and College of Medicine, Taipei, Taiwan.
Susan Shur-Fen GauInstitute of Epidemiology and Preventive Medicine, College of Public Health, National Taiwan University, Taipei, Taiwan; Department of Psychiatry, National Taiwan University Hospital and College of Medicine, Taipei, Taiwan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAutism spectrum disorder (ASD) is a neurodevelopmental disorder with strong genetic components. Several recent genome-wide association (GWA) studies in Caucasian samples have reported a number of gene regions and loci correlated with the risk of ASD--albeit with very little consensus across studies.

methodsA two-stage GWA study was employed to identify common genetic variants for ASD in the Taiwanese Han population. The discovery stage included 315 patients with ASD and 1,115 healthy controls, using the Affymetrix SNP array 6.0 platform for genotyping. Several gene regions were then selected for fine-mapping and top markers were examined in extended samples. Single marker, haplotype, gene-based, and pathway analyses were conducted for associations.

resultsSeven SNPs had p-values ranging from 3.4~9.9*10-6, but none reached the genome-wide significant level. Five of them were mapped to three known genes (OR2M4, STYK1, and MNT) with significant empirical gene-based p-values in OR2M4 (p = 3.4*10(-5)) and MNT (p = 0.0008). Results of the fine-mapping study showed single-marker associations in the GLIS1 (rs12082358 and rs12080993) and NAALADL2 (rs3914502 and rs2222447) genes, and gene-based associations for the OR2M3-OR2T5 (olfactory receptor genes, p = 0.02), and GLIPR1/KRR1 gene regions (p = 0.015). Pathway analyses revealed important pathways for ASD, such as olfactory and G protein-coupled receptors signaling pathways.

conclusionsWe reported Taiwanese Han specific susceptibility genes and variants for ASD. However, further replication in other Asian populations is warranted to validate our findings. Investigation in the biological functions of our reported genetic variants might also allow for better understanding on the underlying pathogenesis of autism.

Indexed as

Genome-Wide Association StudyAdolescentAsian PeopleAutism Spectrum DisorderBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsCase-Control StudiesChildChromosome MappingDNA-Binding ProteinsFemaleGenotypeGlutamate Carboxypeptidase IIHaplotypesHumansMalePolymorphism, Single NucleotideBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsDNA-Binding ProteinsGLIS1 protein, humanGlutamate Carboxypeptidase IIMNT protein, humanNAALADL2 protein, humanReceptor Protein-Tyrosine KinasesRepressor ProteinsSTYK1 protein, humanTranscription Factors

Identifiers

PMID26398136
PMCPMC4580585

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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.