Evidence map›Paper›PMID 20824079›Full record

ArticlePloS one2010

Parent-of-origin effects in autism identified through genome-wide linkage analysis of 16,000 SNPs.

Delphine Fradin, Keely Cheslack-Postava, Christine Ladd-Acosta, Craig Newschaffer, Aravinda Chakravarti, Dan E Arking, Andrew Feinberg, M Daniele Fallin

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed
3.4field-weighted citation impact, top 8% 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

16 citing papers in PubMed, 57 citations in OpenAlex.

  1. Review
  2. Genetic Epidemiology of Complex Phenotypes.Methods in molecular biology (Clifton, N.J.) · 2021
    Review
  3. Increased risk of ADHD in families with ASD.European child & adolescent psychiatry · 2019
    Article
  4. Sexual selection modulates genetic conflicts and patterns of genomic imprinting.Evolution; international journal of organic evolution · 2017
    Article
  5. Bio-collections in autism research.Molecular autism · 2017
    Review
  6. Article
  7. Review
  8. Article
  9. Article
  10. Epigenetic epidemiology: promises for public health research.Environmental and molecular mutagenesis · 2014
    Review
  11. Article
  12. Review
  13. Article
  14. Article
  15. Article
  16. Review
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

8 authors at 4 institutions in 1 country.

Delphine FradinDepartment of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland, United States of America.
Keely Cheslack-Postava
Christine Ladd-Acosta
Craig Newschaffer
Aravinda Chakravarti
Dan E Arking
Andrew Feinberg
M Daniele Fallin
Johns Hopkins Medicine · USJohns Hopkins University · USDrexel University · USRobert Wood Johnson Foundation · US

Funding

Minority Action PlanP50HG003233 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI FEINBERG, ANDREW P. · 2004 to 2013
$22.4M
Genomewide Search--Autism Susceptibility Loci-supplementR01MH064547 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H · 2002 to 2006
$9.6M
Centers for Autism & Develop Disabilities Resarch & Epidemiol:A Case-Cohort StudyU10DD000183 · DD · JOHNS HOPKINS UNIVERSITY · PI FALLIN, M DANIELE · 2006 to 2010
$8.2M
MOLECULAR GENETICS OF INFANTILE AUTISMR01MH052708 · NIMH · STANFORD UNIVERSITY · PI RISCH, NEIL J · 1995 to 2000
$283k
NEUROTRANSMITTER RECEPTORSP01MH039437 · NIMH · STANFORD UNIVERSITY · PI CIARANELLO, ROLAND D · 1985 to 1993
–
NCBDD CDC HHS 5U01DD000183NCBDD CDC HHS U10 DD000183NHGRI NIH HHS 2P50HG003233NHGRI NIH HHS P50 HG003233NIMH NIH HHS MH00219NIMH NIH HHS MH00980NIMH NIH HHS MH39437NIMH NIH HHS MH52708NIMH NIH HHS MH64547NIMH NIH HHS R01 MH064547
6 · The paper itself

Abstract

backgroundAutism is a common heritable neurodevelopmental disorder with complex etiology. Several genome-wide linkage and association scans have been carried out to identify regions harboring genes related to autism or autism spectrum disorders, with mixed results. Given the overlap in autism features with genetic abnormalities known to be associated with imprinting, one possible reason for lack of consistency would be the influence of parent-of-origin effects that may mask the ability to detect linkage and association. METHODS AND

findingsWe have performed a genome-wide linkage scan that accounts for potential parent-of-origin effects using 16,311 SNPs among families from the Autism Genetic Resource Exchange (AGRE) and the National Institute of Mental Health (NIMH) autism repository. We report parametric (GH, Genehunter) and allele-sharing linkage (Aspex) results using a broad spectrum disorder case definition. Paternal-origin genome-wide statistically significant linkage was observed on chromosomes 4 (LOD(GH) = 3.79, empirical p<0.005 and LOD(Aspex) = 2.96, p = 0.008), 15 (LOD(GH) = 3.09, empirical p<0.005 and LOD(Aspex) = 3.62, empirical p = 0.003) and 20 (LOD(GH) = 3.36, empirical p<0.005 and LOD(Aspex) = 3.38, empirical p = 0.006).

conclusionsThese regions may harbor imprinted sites associated with the development of autism and offer fruitful domains for molecular investigation into the role of epigenetic mechanisms in autism.

Indexed as

Genetic LinkageGenome-Wide Association StudyGenomic ImprintingPolymorphism, Single NucleotideAdolescentAdultAutistic DisorderChildChromosome MappingFemaleGenetic Predisposition to DiseaseHumansMaleMiddle AgedPedigreeYoung Adult

Identifiers

PMID20824079
PMCPMC2932694
OpenAlexW2077240464

What OpenQuestion holds

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LicenceCC BY
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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.