Evidence map›Paper›PMID 19588468›Full record

ArticleAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics2010

Association and gene-gene interaction of SLC6A4 and ITGB3 in autism.

D Q Ma, R Rabionet, I Konidari, J Jaworski, H N Cukier, H H Wright, R K Abramson, J R Gilbert, M L Cuccaro, M A Pericak-Vance and 1 more

Open access · greenAbstract read
In one paragraph

Article in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.

0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed
2.0field-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

26 citing papers in PubMed, 50 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Review
  6. Article
  7. p38α MAPK signaling drives pharmacologically reversible brain and gastrointestinal phenotypes in the SERT Ala56 mouse.Proceedings of the National Academy of Sciences of the United States of America · 2018
    Article
  8. Modeling of Autism Using Organoid Technology.Molecular neurobiology · 2017
    Review
  9. The Gain-of-Function Integrin β3 Pro33 Variant Alters the Serotonin System in the Mouse Brain.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2017
    Article
  10. Review
  11. Association between polymorphisms of microRNA-binding sites in integrin genes and gastric cancer in Chinese Han population.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2015
    Article
  12. Article
  13. Review
  14. Article
  15. Article
  16. Article
  17. Protocadherin α (PCDHA) as a novel susceptibility gene for autism.Journal of psychiatry & neuroscience : JPN · 2013
    Article
  18. Article
  19. Article
  20. 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

11 authors at 3 institutions in 2 countries.

D Q MaInstitute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida.
R RabionetCenter for Genomic Regulation, Universitat Pompeu Fabra (CRG-UPF), Barcelona, Spain.
I KonidariInstitute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida.
J JaworskiInstitute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida.
H N CukierInstitute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida.
H H WrightSchool of Medicine, University of South Carolina, Columbia, South Carolina.
R K AbramsonSchool of Medicine, University of South Carolina, Columbia, South Carolina.
J R GilbertInstitute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida.
M L CuccaroInstitute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida.
M A Pericak-VanceInstitute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida.
E R MartinInstitute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida.
University of Miami · USUniversity of South Carolina · USPompeu Fabra University · ES

Funding

USE OF DNA PROBE FOR CHOLINERGIC AND NON-CHOLINERGIC MG ANTIGENP01NS026630 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI PERICAK-VANCE, MARGARET A. · 1989 to 2009
$12.6M
Molecular and Genetic Epidemiology of AutismR01NS036768 · NINDS · DUKE UNIVERSITY · PI PERICAK-VANCE, MARGARET A. · 1997 to 2006
$9.3M
Molecular and Genetic Epidemiology of AutismR01MH080647 · NIMH · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI PERICAK-VANCE, MARGARET A. · 2007 to 2011
$5.9M
NIMH NIH HHS MH080647NIMH NIH HHS R01 MH080647NINDS NIH HHS NS26630NINDS NIH HHS NS36768NINDS NIH HHS P01 NS026630NINDS NIH HHS R01 NS036768
6 · The paper itself

Abstract

Autism is a heritable neurodevelopmental disorder with substantial genetic heterogeneity. Studies point to possible links between autism and two serotonin related genes: SLC6A4 and ITGB3 with a sex-specific genetic effect and interaction between the genes. Despite positive findings, inconsistent results have complicated interpretation. This study seeks to validate and clarify previous findings in an independent dataset taking into account sex, family-history (FH) and gene-gene effects. Family-based association analysis was performed within each gene. Gene-gene interactions were tested using extended multifactor dimensionality reduction (EMDR) and MDR-phenomics (MDR-P) using sex of affecteds and FH as covariates. No significant associations with individual SNPs were found in the datasets stratified by sex, but associations did emerge when we stratified by family history. While not significant in the overall dataset, nominally significant association was identified at RS2066713 (P = 0.006) within SLC6A4 in family-history negative (FH-) families, at RS2066713 (P = 0.038) in family-history positive (FH+) families but with the opposite risk allele as in the FH- families. For ITGB3, nominally significant association was identified at RS3809865 overall (P = 0.040) and within FH+ families (P = 0.031). However, none of the associations survived the multiple testing correction. MDR-P confirmed gene-gene effects using sex of affecteds (P = 0.023) and family history (P = 0.014, survived the multiple testing corrections) as covariates. Our results indicate the extensive heterogeneity within these two genes among families. The potential interaction between SLC6A4 and ITGB3 may be clarified using family history as an indicator of genetic architecture, illustrating the importance of covariates as markers of heterogeneity in genetic analyses.

Indexed as

Models, GeneticAllelesAutistic DisorderFamily HealthFemaleGenetic MarkersGenetic Predisposition to DiseaseHumansIntegrin beta3Linkage DisequilibriumMalePolymorphism, Single NucleotideSerotonin Plasma Membrane Transport ProteinsSex FactorsGenetic MarkersIntegrin beta3ITGB3 protein, humanSerotonin Plasma Membrane Transport ProteinsSLC6A4 protein, human

Identifiers

PMID19588468
PMCPMC3735126
OpenAlexW2083040623

What OpenQuestion holds

Textmetadata
LicenceTDM
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.