Evidence map›Paper›PMID 20678249›Full record

ArticleMolecular autism2010

Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry.

Inês Sousa, Taane G Clark, Richard Holt, Alistair T Pagnamenta, Erik J Mulder, Ruud B Minderaa, Anthony J Bailey, Agatino Battaglia, Sabine M Klauck, Fritz Poustka and 2 more

Open access · goldAbstract read
In one paragraph

Article in Molecular autism, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed
4.2field-weighted citation impact, top 6% 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

32 citing papers in PubMed, 66 citations in OpenAlex.

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  10. Targeted sequencing of the LRRTM gene family in suicide attempters with bipolar disorder.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2020
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  13. Deletion ofProceedings of the National Academy of Sciences of the United States of America · 2018
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  15. APLP1 Is a Synaptic Cell Adhesion Molecule, Supporting Maintenance of Dendritic Spines and Basal Synaptic Transmission.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2017
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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

12 authors at 7 institutions in 5 countries.

Inês SousaWellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK. anthony.monaco@well.ox.ac.uk.
Taane G Clark
Richard Holt
Alistair T Pagnamenta
Erik J Mulder
Ruud B Minderaa
Anthony J Bailey
Agatino Battaglia
Sabine M Klauck
Fritz Poustka
Anthony P Monaco
International Molecular Genetic Study of Autism Consortium (IMGSAC)
University of Oxford · GBUniversity Medical Center Groningen · NLCentre for Human Genetics · GBFondazione Stella Maris · ITGoethe Institute · GBHeidelberg University · DEWarneford Hospital · GB

Funding

Medical Research Council G0600230Medical Research Council G0601030
6 · The paper itself

Abstract

backgroundAutism spectrum disorders (ASDs) are a group of highly heritable neurodevelopmental disorders which are characteristically comprised of impairments in social interaction, communication and restricted interests/behaviours. Several cell adhesion transmembrane leucine-rich repeat (LRR) proteins are highly expressed in the nervous system and are thought to be key regulators of its development. Here we present an association study analysing the roles of four promising candidate genes - LRRTM1 (2p), LRRTM3 (10q), LRRN1 (3p) and LRRN3 (7q) - in order to identify common genetic risk factors underlying ASDs.

methodsIn order to gain a better understanding of how the genetic variation within these four gene regions may influence susceptibility to ASDs, a family-based association study was undertaken in 661 families of European ancestry selected from four different ASD cohorts. In addition, a case-control study was undertaken across the four LRR genes, using logistic regression in probands with ASD of each population against 295 ECACC controls.

resultsSignificant results were found for LRRN3 and LRRTM3 (P < 0.005), using both single locus and haplotype approaches. These results were further supported by a case-control analysis, which also highlighted additional SNPs in LRRTM3.

conclusionsOverall, our findings implicate the neuronal leucine-rich genes LRRN3 and LRRTM3 in ASD susceptibility.

Identifiers

PMID20678249
PMCPMC2913944
OpenAlexW2098615223

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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.