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Journal article
Sperm DNA methylation epimutation biomarker for paternal offspring autism susceptibility
Clinical epigenetics, Vol.13(1), pp.6-6
01/07/2021
PMCID: PMC7789568
PMID: 33413568
Abstract
Background: Autism 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 results: Sperm 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.
Conclusions: Observations 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.
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Details
- Title
- Sperm DNA methylation epimutation biomarker for paternal offspring autism susceptibility
- Creators
- Nicolas Garrido - IVI RMA Valencia, Valencia, SpainFabio Cruz - IVI RMA Valencia, Valencia, SpainRocio Rivera Egea - IVI RMA Valencia, Valencia, SpainCarlos Simon - INCLIVA Health Research InstituteIngrid Sadler-Riggleman - Washington State UniversityDaniel Beck - Washington State UniversityEric Nilsson - Washington State UniversityMillissia Ben Maamar - Washington State UniversityMichael K. Skinner - Washington State University
- Publication Details
- Clinical epigenetics, Vol.13(1), pp.6-6
- Academic Unit
- Biological Sciences, School of
- Publisher
- Springer Nature
- Number of pages
- 13
- Grant note
- 50183; 61174 / John Templeton Foundation Epigenesys Inc., Pullman, WA, USA
- Identifiers
- 99901080817101842
- Language
- English
- Resource Type
- Journal article