Evidence map›Paper›PMID 24189344›Full record

ArticleMolecular psychiatry2014

Common genetic variants on 1p13.2 associate with risk of autism.

K Xia, H Guo, Z Hu, G Xun, L Zuo, Y Peng, K Wang, Y He, Z Xiong, L Sun and 36 more

Abstract read
PubMed Publisher
In one paragraph

Article in Molecular psychiatry, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
48citing papers in PubMed, 1 pooled it
4.2field-weighted citation impact, top 5% 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

48 citing papers in PubMed, 1 synthesis or guideline pooled it, 107 citations in OpenAlex.

  1. Pooled it
  2. Trial
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  7. Article
  8. Article
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  10. Article
  11. Relationship between RELN signaling pathway genes and language development of autism based on a cluster model.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2022
    Article
  12. Article
  13. Article
  14. Molecular Dysregulation in Autism Spectrum Disorder.Journal of personalized medicine · 2021
    Review
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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

46 authors at 5 institutions in 3 countries.

K Xia1] State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China [2] School of Biological Science and Technology, Central South University, Hunan, China.
H Guo1] State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China [2] School of Biological Science and Technology, Central South University, Hunan, China [3] Division of Intramural Research Programs, National Institute of Mental Health, The National Institutes of Health, Bethesda, MD, USA.
Z Hu1] State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China [2] School of Biological Science and Technology, Central South University, Hunan, China.
G XunMental Health Institute, The Second Xiangya Hospital, Central South University, Hunan, China.
L ZuoDepartment of Psychiatry, Yale University, New Haven, CT, USA.
Y Peng1] State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China [2] School of Biological Science and Technology, Central South University, Hunan, China.
K WangState Key Laboratory Incubation Base of Dermatology, Anhui, China.
Y HeMental Health Institute, The Second Xiangya Hospital, Central South University, Hunan, China.
Z Xiong1] State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China [2] School of Biological Science and Technology, Central South University, Hunan, China.
L SunState Key Laboratory Incubation Base of Dermatology, Anhui, China.
Q PanState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
Z LongState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
X ZouDepartment of Pediatrics, No. 3 Hospital of the Sun Yat-sen University, Guangdong, China.
X LiState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
W LiState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
X XuState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
L LuState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
Y LiuState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
Y HuState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
D TianState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
L LongState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
J OuMental Health Institute, The Second Xiangya Hospital, Central South University, Hunan, China.
Y LiuMental Health Institute, The Second Xiangya Hospital, Central South University, Hunan, China.
X LiMental Health Institute, The Second Xiangya Hospital, Central South University, Hunan, China.
L ZhangState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
Y PanState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
J ChenState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
H PengState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
Q LiuState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
X LuoMental Health Institute, The Second Xiangya Hospital, Central South University, Hunan, China.
W SuState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
L WuState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
D LiangState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.ORCID 0000000294518585
H DaiState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
X Yan1] State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China [2] The Xiangya Hospital, Central South University, Hunan, China.
Y Feng1] State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China [2] The Xiangya Hospital, Central South University, Hunan, China.
B Tang1] State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China [2] The Xiangya Hospital, Central South University, Hunan, China.
J Li1] State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China [2] School of Biological Science and Technology, Central South University, Hunan, China.
Z MiedzybrodzkaUniversity of Aberdeen, Royal Cornhill Hospital, Aberdeen, UK.
J XiaState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
Z ZhangState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
X LuoDepartment of Psychiatry, Yale University, New Haven, CT, USA.
X ZhangState Key Laboratory Incubation Base of Dermatology, Anhui, China.
D St Clair1] Division of Intramural Research Programs, National Institute of Mental Health, The National Institutes of Health, Bethesda, MD, USA [2] University of Aberdeen, Royal Cornhill Hospital, Aberdeen, UK.
J Zhao1] State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China [2] Mental Health Institute, The Second Xiangya Hospital, Central South University, Hunan, China.
F Zhang1] Division of Intramural Research Programs, National Institute of Mental Health, The National Institutes of Health, Bethesda, MD, USA [2] The Lieber Institute for Brain Development, Johns Hopkins University Medical Campus, Baltimore, MD, USA.
Central South University · CNNational Institutes of Health · USSun Yat-sen University · CNUniversity of Aberdeen · GBYale University · US

Funding

Intramural NIH HHS
6 · The paper itself

Abstract

Autism is a highly heritable neurodevelopmental disorder, and known genetic variants, mostly rare, account only for a small proportion of cases. Here we report a genome-wide association study on autism using two Chinese cohorts as gene discovery (n=2150) and three data sets of European ancestry populations for replication analysis of top association signals. Meta-analysis identified three single-nucleotide polymorphisms, rs936938 (P=4.49 × 10(-8)), non-synonymous rs6537835 (P=3.26 × 10(-8)) and rs1877455 (P=8.70 × 10(-8)), and related haplotypes, AMPD1-NRAS-CSDE1, TRIM33 and TRIM33-BCAS2, associated with autism; all were mapped to a previously reported linkage region (1p13.2) with autism. These genetic associations were further supported by a cis-acting regulatory effect on the gene expressions of CSDE1, NRAS and TRIM33 and by differential expression of CSDE1 and TRIM33 in the human prefrontal cortex of post-mortem brains between subjects with and those without autism. Our study suggests TRIM33 and NRAS-CSDE1 as candidate genes for autism, and may provide a novel insight into the etiology of autism.

Indexed as

Genetic Predisposition to DiseasePolymorphism, Single NucleotideAsian PeopleAutistic DisorderBlack or African AmericanChinaChromosomes, Human, Pair 1Cohort StudiesDNA-Binding ProteinsGenome-Wide Association StudyGTP PhosphohydrolasesHaplotypesHumansMembrane ProteinsMeta-Analysis as TopicPrefrontal CortexCSDE1 protein, humanDNA-Binding ProteinsGTP PhosphohydrolasesMembrane ProteinsNRAS protein, humanRNA-Binding ProteinsTranscription FactorsTRIM33 protein, human

Identifiers

PMID24189344
OpenAlexW2038147585

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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.