Evidence map›Paper›PMID 23031252›Full record

ArticleJournal of psychiatry & neuroscience : JPN2013

Protocadherin α (PCDHA) as a novel susceptibility gene for autism.

Ayyappan Anitha, Ismail Thanseem, Kazuhiko Nakamura, Kazuo Yamada, Yoshimi Iwayama, Tomoko Toyota, Yasuhide Iwata, Katsuaki Suzuki, Toshiro Sugiyama, Masatsugu Tsujii and 2 more

Abstract read
In one paragraph

Article in Journal of psychiatry & neuroscience : JPN, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
45citing 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

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

  1. Pooled it
  2. Pooled it
  3. Article
  4. Article
  5. Article
  6. Article
  7. Review
  8. Article
  9. Article
  10. Article
  11. Review
  12. Article
  13. Article
  14. Article
  15. Genes · 2023
    Article
  16. Influence ofFrontiers in genetics · 2023
    Article
  17. Article
  18. Article
  19. Article
  20. Association between Genetic Variants inBehavioural neurology · 2021
    Article
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

12 authors.

Ayyappan AnithaResearch Center for Child Mental Development, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Ismail Thanseem
Kazuhiko Nakamura
Kazuo Yamada
Yoshimi Iwayama
Tomoko Toyota
Yasuhide Iwata
Katsuaki Suzuki
Toshiro Sugiyama
Masatsugu Tsujii
Takeo Yoshikawa
Norio Mori

Funding

Center for Genomic and Phenomic Studies in AutismU24MH081810 · NIMH · UNIVERSITY OF SOUTHERN CALIFORNIA · PI LAJONCHERE, CLARA M · 2007 to 2011
$8.3M
NIMH NIH HHS 1U24MH081810NIMH NIH HHS U24 MH081810
6 · The paper itself

Abstract

backgroundSynaptic dysfunction has been shown to be involved in the pathogenesis of autism. We hypothesized that the protocadherin α gene cluster (PCDHA), which is involved in synaptic specificity and in serotonergic innervation of the brain, could be a suitable candidate gene for autism.

methodsWe examined 14 PCDHA single nucleotide polymorphisms (SNPs) for genetic association with autism in DNA samples of 3211 individuals (841 families, including 574 multiplex families) obtained from the Autism Genetic Resource Exchange.

resultsFive SNPs (rs251379, rs1119032, rs17119271, rs155806 and rs17119346) showed significant associations with autism. The strongest association (p < 0.001) was observed for rs1119032 (z score of risk allele G = 3.415) in multiplex families; SNP associations withstand multiple testing correction in multiplex families (p = 0.041). Haplotypes involving rs1119032 showed very strong associations with autism, withstanding multiple testing corrections. In quantitative transmission disequilibrium testing of multiplex fam - ilies, the G allele of rs1119032 showed a significant association (p = 0.033) with scores on the Autism Diagnostic Interview-Revised (ADI-R)_D (early developmental abnormalities). We also found a significant difference in the distribution of ADI-R_A (social interaction) scores between the A/A, A/G and G/G genotypes of rs17119346 (p = 0.002). LIMITATIONS: Our results should be replicated in an independent population and/or in samples of different racial backgrounds.

conclusionOur study provides strong genetic evidence of PCDHA as a potential candidate gene for autism.

Indexed as

Autistic DisorderCadherinsCell Adhesion MoleculesFemaleGenetic Predisposition to DiseaseGenotypeHaplotypesHumansLinkage DisequilibriumMalePolymorphism, Single NucleotideCadherinsCell Adhesion Molecules

Identifiers

PMID23031252
PMCPMC3633712

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.