Evidence map›Paper›PMID 23315237›Full record

Trial reportHuman genetics2013

Increased paternal age and the influence on burden of genomic copy number variation in the general population.

Jacobine E Buizer-Voskamp, Hylke M Blauw, Marco P M Boks, Kristel R van Eijk, Jan H Veldink, Eric A M Hennekam, Jacob A S Vorstman, Flip Mulder, Henning Tiemeier, André G Uitterlinden and 5 more

Abstract readClinical TrialMulticenter Study
PubMed Publisher
In one paragraph

Trial report in Human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
–field-weighted citation impact
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

15 citing papers in PubMed.

  1. Multifocal Genomic Reconstruction Leading to Germline Structural Variants.Methods in molecular biology (Clifton, N.J.) · 2025
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  11. Environmental factors associated with autism spectrum disorder: a scoping review for the years 2003-2013.Health promotion and chronic disease prevention in Canada : research, policy and practice · 2017
    Article
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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

15 authors.

Jacobine E Buizer-VoskampDepartment of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands. J.E.Buizer@umcutrecht.nl
Hylke M Blauw
Marco P M Boks
Kristel R van Eijk
Jan H Veldink
Eric A M Hennekam
Jacob A S Vorstman
Flip Mulder
Henning Tiemeier
André G Uitterlinden
Lambertus A Kiemeney
Leonard H van den Berg
René S Kahn
Chiara Sabatti
Roel A Ophoff

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genomic copy number variations (CNVs) and increased parental age are both associated with the risk to develop a variety of clinical neuropsychiatric disorders such as autism, schizophrenia and bipolar disorder. At the same time, it has been shown that the rate of transmitted de novo single nucleotide mutations is increased with paternal age. To address whether paternal age also affects the burden of structural genomic deletions and duplications, we examined various types of CNV burden in a large population sample from the Netherlands. Healthy participants with parental age information (n = 6,773) were collected at different University Medical Centers. CNVs were called with the PennCNV algorithm using Illumina genome-wide SNP array data. We observed no evidence in support of a paternal age effect on CNV load in the offspring. Our results were negative for global measures as well as several proxies for de novo CNV events in this unique sample. While recent studies suggest de novo single nucleotide mutation rate to be dominated by the age of the father at conception, our results strongly suggest that at the level of global CNV burden there is no influence of increased paternal age. While it remains possible that local genomic effects may exist for specific phenotypes, this study indicates that global CNV burden and increased father's age may be independent disease risk factors.

Indexed as

AlgorithmsDNA Copy Number VariationsMutationMutation RateParentsPolymorphism, Single NucleotideAdultAgedAge FactorsFemaleGenetics, PopulationHumansMaleMiddle AgedNetherlands

Identifiers

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Registered trials

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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.