Evidence map›Paper›PMID 25656819›Full record

ArticleScientific reports2015

Association of genetic variants of GRIN2B with autism.

Yongcheng Pan, Jingjing Chen, Hui Guo, Jianjun Ou, Yu Peng, Qiong Liu, Yidong Shen, Lijuan Shi, Yalan Liu, Zhimin Xiong and 5 more

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
33citing papers in PubMed, 2 pooled it
3.6field-weighted citation impact, top 7% 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

33 citing papers in PubMed, 2 syntheses or guidelines pooled it, 56 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
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  4. Review
  5. Article
  6. Article
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  9. Review
  10. Article
  11. Decoding the genetic landscape of autism: A comprehensive review.World journal of clinical pediatrics · 2024
    Article
  12. Article
  13. Transcriptional Dysregulation and Impaired Neuronal Activity inInternational journal of molecular sciences · 2023
    Article
  14. Review
  15. Article
  16. Review
  17. Role of CaFrontiers in molecular neuroscience · 2022
    Review
  18. Frontiers in synaptic neuroscience · 2022
    Review
  19. 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

15 authors at 3 institutions in 1 country.

Yongcheng PanThe State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Jingjing ChenThe State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Hui Guo1] The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China [2] Mental Health Institute, The Second Xiangya Hospital, Central South University, Hunan, China.
Jianjun OuMental Health Institute, The Second Xiangya Hospital, Central South University, Hunan, China.
Yu PengThe State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Qiong LiuThe State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Yidong ShenMental Health Institute, The Second Xiangya Hospital, Central South University, Hunan, China.
Lijuan ShiMental Health Institute, The Second Xiangya Hospital, Central South University, Hunan, China.
Yalan Liu1] The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China [2] The Xiangya Hospital, Central South University, Hunan, China.
Zhimin Xiong1] The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China [2] The Third Xiangya Hospital, Central South University, Hunan, China.
Tengfei ZhuThe State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Sanchuan LuoThe State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Zhengmao HuThe State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Jingping ZhaoMental Health Institute, The Second Xiangya Hospital, Central South University, Hunan, China.
Kun Xia1] The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China [2] College of Life Science and Technology, Xinjiang University, Xinjiang, China [3] Key Laboratory of Medical Information Research (Central South University), Changsha, Hunan, China.
Central South University · CNSecond Xiangya Hospital of Central South University · CNXinjiang University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Autism (MIM 209850) is a complex neurodevelopmental disorder characterized by social communication impairments and restricted repetitive behaviors. It has a high heritability, although much remains unclear. To evaluate genetic variants of GRIN2B in autism etiology, we performed a system association study of common and rare variants of GRIN2B and autism in cohorts from a Chinese population, involving a total sample of 1,945 subjects. Meta-analysis of a triad family cohort and a case-control cohort identified significant associations of multiple common variants and autism risk (Pmin = 1.73 × 10(-4)). Significantly, the haplotype involved with the top common variants also showed significant association (P = 1.78 × 10(-6)). Sanger sequencing of 275 probands from a triad cohort identified several variants in coding regions, including four common variants and seven rare variants. Two of the common coding variants were located in the autism-related linkage disequilibrium (LD) block, and both were significantly associated with autism (P < 9 × 10(-3)) using an independent control cohort. Burden analysis and case-only analysis of rare coding variants identified by Sanger sequencing did not find this association. Our study for the first time reveals that common variants and related haplotypes of GRIN2B are associated with autism risk.

Indexed as

Genetic Association StudiesGenetic Predisposition to DiseaseGenetic VariationAllelesAmino Acid SubstitutionAutistic DisorderHaplotypesHumansLinkage DisequilibriumOdds RatioPolymorphism, Single NucleotideReceptors, N-Methyl-D-AspartateNR2B NMDA receptorReceptors, N-Methyl-D-Aspartate

Identifiers

PMID25656819
PMCPMC4319152
OpenAlexW2070938678

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.