Evidence map›Paper›PMID 20963441›Full record

ArticleHuman genetics2011

Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16.

Nicola H Chapman, Annette Estes, Jeff Munson, Raphael Bernier, Sara J Webb, Joseph H Rothstein, Nancy J Minshew, Geraldine Dawson, Gerard D Schellenberg, Ellen M Wijsman

Abstract read
In one paragraph

Article in Human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed, 1 pooled it
2.4field-weighted citation impact, top 11% 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

23 citing papers in PubMed, 1 synthesis or guideline pooled it, 54 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Article
  4. Article
  5. Cognitive correlates of autism spectrum disorder symptoms.Autism research : official journal of the International Society for Autism Research · 2021
    Article
  6. Review
  7. Article
  8. Cadherin 13: humanMolecular medicine (Cambridge, Mass.) · 2016
    Article
  9. Article
  10. Review
  11. Article
  12. Article
  13. Review
  14. Article
  15. Article
  16. Article
  17. Using IQ discrepancy scores to examine the neural correlates of specific cognitive abilities.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2013
    Article
  18. Article
  19. Article
  20. Evidence for involvement of GNB1L in autism.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2012
    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

10 authors at 5 institutions in 1 country.

Nicola H ChapmanDepartment of Medicine, University of Washington, Seattle, WA, USA.
Annette Estes
Jeff Munson
Raphael Bernier
Sara J Webb
Joseph H Rothstein
Nancy J Minshew
Geraldine Dawson
Gerard D Schellenberg
Ellen M Wijsman
University of Washington · USAutism Speaks · USCancer Research And Biostatistics · USUniversity of Pennsylvania · USUniversity of Pittsburgh · US

Funding

UW Autism Center of ExcellenceP50HD055782 · NICHD · UNIVERSITY OF WASHINGTON · PI KING, BRYAN H · 2007 to 2011
$11.0M
SYSTEMS CONNECTIVITY + BRAIN ACTIVATION:IMAGING STUDIES OF LANGUAGE + PERCEPTIONP50HD055748 · NICHD · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MINSHEW, NANCY J · 2007 to 2011
$9.7M
NHGRI NIH HHS HHSN268200782096CNICHD NIH HHS HD055782NICHD NIH HHS P50 HD055748NICHD NIH HHS P50 HD055782
6 · The paper itself

Abstract

Performance IQ (PIQ) greater than verbal IQ (VIQ) is often observed in studies of the cognitive abilities of autistic individuals. This characteristic is correlated with social and communication impairments, key parts of the autism diagnosis. We present the first genetic analyses of IQ discrepancy (PIQ-VIQ) as an autism-related phenotype. We performed genome-wide joint linkage and segregation analyses on 287 multiplex families, using a Markov chain Monte Carlo approach. Genetic data included a genome-scan of 387 micro-satellite markers in 210 families augmented with additional markers added in a subset of families. Empirical P values were calculated for five interesting regions. Linkage analysis identified five chromosomal regions with substantial regional evidence of linkage; 10p12 [P = 0.001; genome-wide (gw) P = 0.05], 16q23 (P = .015; gw P = 0.53), 2p21 (P = 0.03, gw P = 0.78), 6q25 (P = 0.047, gw P = 0.91) and 15q23-25 (P = 0.053, gw P = 0.93). The location of the chromosome 10 linkage signal coincides with a region noted in a much earlier genome-scan for autism, and the chromosome 16 signal coincides exactly with a linkage signal for non-word repetition in specific language impairment. This study provides strong evidence for a QTL influencing IQ discrepancy in families with autistic individuals on chromosome 10, and suggestive evidence for a QTL on chromosome 16. The location of the chromosome 16 signal suggests a candidate gene, CDH13, a T-cadherin expressed in the brain, which has been implicated in previous SNP studies of autism and ADHD.

Indexed as

Genetic LociAdultAutistic DisorderCadherinsChildChromosomes, Human, Pair 10Chromosomes, Human, Pair 16FemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansIntelligenceMaleMicrosatellite RepeatsMiddle AgedPedigreeCadherinsH-cadherin

Identifiers

PMID20963441
PMCPMC3082447
OpenAlexW2166524246

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.