Evidence map›Paper›PMID 33413568›Full record

ArticleClinical epigenetics2021

Sperm DNA methylation epimutation biomarker for paternal offspring autism susceptibility.

Nicolás Garrido, Fabio Cruz, Rocio Rivera Egea, Carlos Simon, Ingrid Sadler-Riggleman, Daniel Beck, Eric Nilsson, Millissia Ben Maamar, Michael K Skinner

Abstract readComparative Study
In one paragraph

Article in Clinical epigenetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.

0numbers the graph read from it
0cells of the map it votes in
40citing 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

40 citing papers in PubMed.

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  14. Harnessing male germline epigenomics for the genetic improvement in cattle.Journal of animal science and biotechnology · 2023
    Review
  15. Review
  16. Cannabis and Paternal Epigenetic Inheritance.International journal of environmental research and public health · 2023
    Review
  17. 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

9 authors.

Nicolás GarridoIVI-RMA València, and IVI Foundation, Health Research Institute La Fe, València, Spain.
Fabio CruzIVI-RMA València, and IVI Foundation, Health Research Institute La Fe, València, Spain.
Rocio Rivera EgeaIVI-RMA València, and IVI Foundation, Health Research Institute La Fe, València, Spain.
Carlos SimonDept Ob/Gyn, València University/Instituto de Investigacion Clinica, Hospital Clinico de Valencia (INCLIVA), and Igenomix Foundation, València, Spain.
Ingrid Sadler-RigglemanCenter for Reproductive Biology, School of Biological Sciences, Washington State University, Pullman, WA, 99164-4236, USA.
Daniel BeckCenter for Reproductive Biology, School of Biological Sciences, Washington State University, Pullman, WA, 99164-4236, USA.
Eric NilssonCenter for Reproductive Biology, School of Biological Sciences, Washington State University, Pullman, WA, 99164-4236, USA.
Millissia Ben MaamarCenter for Reproductive Biology, School of Biological Sciences, Washington State University, Pullman, WA, 99164-4236, USA.
Michael K SkinnerCenter for Reproductive Biology, School of Biological Sciences, Washington State University, Pullman, WA, 99164-4236, USA. skinner@wsu.edu.ORCID 0000-0001-8224-2078

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAutism spectrum disorder (ASD) has increased over tenfold over the past several decades and appears predominantly associated with paternal transmission. Although genetics is anticipated to be a component of ASD etiology, environmental epigenetics is now also thought to be an important factor. Epigenetic alterations, such as DNA methylation, have been correlated with ASD. The current study was designed to identify a DNA methylation signature in sperm as a potential biomarker to identify paternal offspring autism susceptibility. METHODS AND

resultsSperm samples were obtained from fathers that have children with or without autism, and the sperm then assessed for alterations in DNA methylation. A genome-wide analysis (> 90%) for differential DNA methylation regions (DMRs) was used to identify DMRs in the sperm of fathers (n = 13) with autistic children in comparison with those (n = 13) without ASD children. The 805 DMR genomic features such as chromosomal location, CpG density and length of the DMRs were characterized. Genes associated with the DMRs were identified and found to be linked to previously known ASD genes, as well as other neurobiology-related genes. The potential sperm DMR biomarkers/diagnostic was validated with blinded test sets (n = 8-10) of individuals with an approximately 90% accuracy.

conclusionsObservations demonstrate a highly significant set of 805 DMRs in sperm that can potentially act as a biomarker for paternal offspring autism susceptibility. Ancestral or early-life paternal exposures that alter germline epigenetics are anticipated to be a molecular component of ASD etiology.

Indexed as

BiomarkersFathersGenetic Predisposition to DiseaseSpermatozoaAdultAutistic DisorderDNA MethylationEpigenesis, GeneticGenetic MarkersHumansMaleMiddle AgedMutationSpainBiomarkersGenetic MarkersAutismDiagnosticEpigeneticsFatherGenerationalOffspringSperm

Identifiers

PMID33413568
PMCPMC7789568

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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.