ArticleEuropean journal of human genetics : EJHG2017
A genome-wide investigation into parent-of-origin effects in autism spectrum disorder identifies previously associated genes including SHANK3.
Article in European journal of human genetics : EJHG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
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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.
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.
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Who cites it
27 citing papers in PubMed, 44 citations in OpenAlex.
- Developmental CA2 perineuronal net reduction restores social memory in Shank3 mutant mice.Communications biology · 2026Article
- Challenges and emerging strategies for genome-wide evaluation of loss of imprinting in cancer.British journal of biomedical science · 2026Review
- Developmental CA2 perineuronal net reduction restores social memory inbioRxiv : the preprint server for biology · 2025Article
- Kin selection as a modulator of human handedness: sex-specific, parental and parent-of-origin effects.Evolutionary human sciences · 2024Article
- The genetic landscape of autism spectrum disorder in the Middle Eastern population.Frontiers in genetics · 2024Article
- Evidence for parent-of-origin effects in autism spectrum disorder: a narrative review.Journal of applied genetics · 2023Review
- Intergenerational longitudinal associations between parental reading/musical traits, infants' auditory processing, and later phonological awareness skills.Frontiers in neuroscience · 2023Article
- A family-based study of genetic and epigenetic effects across multiple neurocognitive, motor, social-cognitive and social-behavioral functions.Behavioral and brain functions : BBF · 2022Article
- Whole-genome sequencing reveals the genetic mechanisms of domestication in classical inbred mice.Genome biology · 2022Article
- Maternal-fetal genetic interactions, imprinting, and risk of placental abruption.The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians · 2022Article
- Epigenome-Wide Analysis Reveals DNA Methylation Alteration inChildren (Basel, Switzerland) · 2022Article
- Genome-wide association study of suicidal behaviour severity in mood disorders.The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry · 2021Article
- Genome-wide survey of parent-of-origin-specific associations across clinical traits derived from electronic health records.HGG advances · 2021Article
- A profile and review of findings from the Early Markers for Autism study: unique contributions from a population-based case-control study in California.Molecular autism · 2021Review
- Paternal genetic variants and risk of obstructive heart defects: A parent-of-origin approach.PLoS genetics · 2021Article
- Genetic Overlap Between Attention Deficit/Hyperactivity Disorder and Autism Spectrum Disorder inFrontiers in neuroscience · 2021Article
- Flexible Mixture Model Approaches That Accommodate Footprint Size Variability for Robust Detection of Balancing Selection.Molecular biology and evolution · 2020Article
- Evidence for germline non-genetic inheritance of human phenotypes and diseases.Clinical epigenetics · 2020Review
- Quantitative genome-wide association analyses of receptive language in the Danish High Risk and Resilience Study.BMC neuroscience · 2020Article
- Next-Generation Sequencing in Korean Children With Autism Spectrum Disorder and Comorbid Epilepsy.Frontiers in pharmacology · 2020Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 2 countries.
Funding
Abstract
Autism spectrum disorder (ASD) is known to be a heritable neurodevelopmental disorder affecting more than 1% of the population but in the majority of ASD cases, the genetic cause has not been identified. Parent-of-origin effects have been highlighted as an important mechanism in the pathology of neurodevelopmental disorders such as Prader-Willi and Angelman syndrome, with individuals with these syndromes often exhibiting ASD symptoms. Consequently, systematic investigation of these effects in ASD is clearly an important line of investigation in elucidating the underlying genetic mechanisms. Using estimation of maternal, imprinting and interaction effects using multinomial modelling (EMIM), we simultaneously investigated imprinting, maternal genetic effects and associations in the Autism Genome Project and Simons Simplex Consortium genome-wide association data sets. To avoid using the overly stringent genome-wide association study significance level, we used a Bayesian threshold that takes into account the sample size, allele frequency and any available prior knowledge. Between the two data sets, we identified a total of 18 imprinting effects and 68 maternal genetic effects that met this Bayesian threshold criteria, but none met the threshold in both data sets. We identified imprinting and maternal genetic effects for regions that have previously shown evidence for parent-of-origin effects in ASD. Together with these findings, we have identified maternal genetic effects not previously identified in ASD at a locus in SHANK3 on chromosome 22 and a locus in WBSCR17 on chromosome 7 (associated with Williams syndrome). Both genes have previously been associated with ASD.
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Registered trials
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.