Evidence map›Paper›PMID 22832608›Full record

ArticleTranslational psychiatry2011

Increased de novo copy number variants in the offspring of older males.

T Flatscher-Bader, C J Foldi, S Chong, E Whitelaw, R J Moser, T H J Burne, D W Eyles, J J McGrath

Open access · goldAbstract readComparative Study
In one paragraph

Article in Translational psychiatry, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
4.6field-weighted citation impact, top 5% 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

18 citing papers in PubMed, 46 citations in OpenAlex.

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  18. Ageing of the male germ line.Nature reviews. Urology · 2013
    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 3 institutions in 1 country.

T Flatscher-BaderQueensland Brain Institute, The University of Queensland, St Lucia, QLD, Australia.
C J Foldi
S Chong
E Whitelaw
R J Moser
T H J Burne
D W Eyles
J J McGrath
University of Queensland · AUQIMR Berghofer Medical Research Institute · AUQueensland Centre for Mental Health Research · AU

Funding

Wellcome Trust
6 · The paper itself

Abstract

The offspring of older fathers have an increased risk of neurodevelopmental disorders, such as schizophrenia and autism. In light of the evidence implicating copy number variants (CNVs) with schizophrenia and autism, we used a mouse model to explore the hypothesis that the offspring of older males have an increased risk of de novo CNVs. C57BL/6J sires that were 3- and 12-16-months old were mated with 3-month-old dams to create control offspring and offspring of old sires, respectively. Applying genome-wide microarray screening technology, 7 distinct CNVs were identified in a set of 12 offspring and their parents. Competitive quantitative PCR confirmed these CNVs in the original set and also established their frequency in an independent set of 77 offspring and their parents. On the basis of the combined samples, six de novo CNVs were detected in the offspring of older sires, whereas none were detected in the control group. Two of the CNVs were associated with behavioral and/or neuroanatomical phenotypic features. One of the de novo CNVs involved Auts2 (autism susceptibility candidate 2), and other CNVs included genes linked to schizophrenia, autism and brain development. This is the first experimental demonstration that the offspring of older males have an increased risk of de novo CNVs. Our results support the hypothesis that the offspring of older fathers have an increased risk of neurodevelopmental disorders such as schizophrenia and autism by generation of de novo CNVs in the male germline.

Indexed as

Paternal AgeAnimalsAutistic DisorderBehavior, AnimalDisease Models, AnimalDNA Copy Number VariationsFemaleGenetic VariationMaleMiceMice, Inbred C57BLOligonucleotide Array Sequence AnalysisReal-Time Polymerase Chain ReactionSchizophrenia

Identifiers

PMID22832608
PMCPMC3309504
OpenAlexW2027975815

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.