Gene expression profiling of lymphoblastoid cell lines from monozygotic twins discordant in severity of autism reveals differential regulation of neurologically relevant genes

Hu, Valerie W.; Frank, Bryan; Heine, Shannon J.; Lee, Norman H.; Quackenbush, John

doi:10.1186/1471-2164-7-118

Cited by 189 publications

(164 citation statements)

References 77 publications

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“…They used microarray analysis to observe lymphoblastoid cell lines derived from the blood of MZ twins for biomarkers of autism with the hypothesis that expression differences between affected and unaffected individuals might be present in tissues besides the brain [63]. Based on their results, they were able to show that MZ twins discordant for ASD exhibited differential expression for genes critical in the nervous system.…”

Section: Autism Spectrum Disordermentioning

confidence: 99%

“…In a study by Hu et al [63], the authors studied differences in gene expression in genetically identical individuals with different degrees of autism. They used microarray analysis to observe lymphoblastoid cell lines derived from the blood of MZ twins for biomarkers of autism with the hypothesis that expression differences between affected and unaffected individuals might be present in tissues besides the brain [63].…”

Section: Autism Spectrum Disordermentioning

confidence: 99%

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Epigenetics as the Underlying Mechanism for Monozygotic Twin Discordance

Hogenson¹

2013

Med Epigenet

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Monozygotic twins share an identical DNA sequence but typically display some level of phenotypic discordance. The cause of this discordance is often unknown. Two known contributing factors to phenotype are genetics and environment. While the mechanism for the genetic effect is defined through DNA sequence, the mechanism for expression of the environmental effect is less defined. With the emergence of the field of epigenetics, researchers have begun to consider it an important contributing factor to phenotype. Exposure to various environmental factors has been shown to have an effect on an individual's epigenetic marks and may be the primary mechanism for how the environment induces a change in phenotype. Current research indicates that epigenetic differences between monozygotic twins may be an important contributing factor to phenotypic discordance. Monozygotic twins are an ideal resource for the study of epigenetics since many confounding factors found in the general population, such as variation in DNA sequence, can be eliminated. Uncovering these epigenetic factors will increase our understanding of the molecular mechanisms that may contribute to phenotypic discordance in monozygotic twins and may lead to new theoretical and experimental opportunities in health and disease.

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Section: Autism Spectrum Disordermentioning

confidence: 99%

Section: Autism Spectrum Disordermentioning

confidence: 99%

Epigenetics as the Underlying Mechanism for Monozygotic Twin Discordance

Hogenson¹

2013

Med Epigenet

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“…Following studies showing RNA and microRNA expression differences in lymphoblastoid cell lines from 3 MZ pairs discordant for ASD symptoms, which identified known ASD-associated genes [74,75], Wong et al [76] performed a discordant twin EWAS with a difference. In addition to analysing genome-scale methylation in whole blood from 10 ASD-discordant MZ pairs, they also studied MZ pairs discordant for the ASD-related phenotypes of social autistic traits (n = 9), autistic restricted repetitive behaviours and interests (n = 8) and communication autistic traits (n = 8), together with a case-control analysis in 100 individuals.…”

Section: Ewas Of Disease-discordant Mz Twinsmentioning

confidence: 99%

Epigenetics in Twin Studies

Craig

2013

Med Epigenet

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It is emerging that the environment, particularly in early life, can cause long-lasting epigenetic changes that are accompanied by latent effects on health outcomes. Furthermore, the reversibility of some epigenetic marks in animal models indicates that, once recognised in early life, such epigenetic changes may be reversible, providing potential avenues for disease prognosis, prevention and treatment. Twin studies, which were originally used to calculate gross components of genetic and environmental influence on phenotype, are now being used to associate specific genetic and epigenetic variants with specific human conditions and diseases. Epigenome-wide association studies of phenotypically discordant, genetically ‘identical' monozygotic twins have the power to focus solely on epigenetic association with disease and are providing information about gene-environment interaction and variable penetrance. Going beyond association, such studies can help generate epigenetic biomarkers to predict disease long before clinical onset, which has important implications for disease prevention. Furthermore, when epigenetic information on a genome scale is combined with other ‘omics', twin studies will be a strong force for the improvement of human health.

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“…Future research in this domain could potentially implicate oxidative stress as a biomarker for ASD, thus contributing to the literature of specific risk factors which may play a role in the ASD clinical presentation. In addition to oxidative stress being proposed as a biomarker for ASD, DNA microarray analysis has been investigated as a means to investigate candidate genes that may be implicated in inflammation in ASD (Hu et al 2006). Studies of differential gene expression among genetically identical twins with ASD suggested that differential gene expression in lymphoblastoid cell lines (LCL), which transformed cell lines generated from peripheral blood lymphocytes by infection with Epstein-Barr Virus (EBV), could serve as easily accessible biomarkers for ASD diagnoses by expressing a defined percentage of the genes that are typically found within ASD (Hu et al 2006).…”

Section: Inflammation As a Potential Biomarkermentioning

confidence: 99%

Exploring the Potential Role of Inflammation as an Etiological Process in ASD

Elias

Sullivan

Lee

et al. 2015

Rev J Autism Dev Disord

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The heterogeneity in the behavioral presentation of autism spectrum disorder (ASD) may be surpassed only by the level of heterogeneity in its etiology. There are diverse pathways to the singular diagnostic outcome of ASD, and several etiological risk factors have been proposed in recent years. This review paper examines the role of inflammation as one possible etiologic factor in ASD, juxtaposed in the context of research on the role of inflammation in other psychiatric disorders. Human, animal, and postmortem studies of inflammation in ASD were surveyed, and their direct and indirect contributions to developing potential inflammation-based treatments, as well as potential preventative considerations, in ASD were reviewed. Although the mechanisms that link inflammation and ASD remain unknown, there exists a sizable multidisciplinary literature suggesting inflammation as a trans-etiological process.

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Gene expression profiling of lymphoblastoid cell lines from monozygotic twins discordant in severity of autism reveals differential regulation of neurologically relevant genes

Cited by 189 publications

References 77 publications

Epigenetics as the Underlying Mechanism for Monozygotic Twin Discordance

Epigenetics as the Underlying Mechanism for Monozygotic Twin Discordance

Epigenetics in Twin Studies

Exploring the Potential Role of Inflammation as an Etiological Process in ASD

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