Comprehensive meta-analysis reveals association between multiple imprinting disorders and conception by assisted reproductive technology

Cortessis, Victoria K.; Azadian, Moosa; Buxbaum, James; Sanogo, Fatimata; Song, Ashley; Sriprasert, Intira; Wei, Pengxiao C.; Yu, Jing; Chung, Karine; Siegmund, Kimberly D.

doi:10.1007/s10815-018-1173-x

Cited by 88 publications

(71 citation statements)

References 64 publications

(66 reference statements)

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“…Although not currently recommended, it is expected that requests for prenatal testing of ImpDis in fetuses conceived by assisted reproductive techology (ART) may increase in the future based on the reported association with these procedures [163,164]. An accurate molecular prenatal diagnosis is often challenged by heterogeneity and frequent mosaicism of the genetic/epigenetic alterations [7].…”

Section: Dna Methylation Analysis In Prenatal Diagnosismentioning

confidence: 99%

DNA Methylation in the Diagnosis of Monogenic Diseases

Cerrato

Sparago

Ariani

et al. 2020

Genes

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DNA methylation in the human genome is largely programmed and shaped by transcription factor binding and interaction between DNA methyltransferases and histone marks during gamete and embryo development. Normal methylation profiles can be modified at single or multiple loci, more frequently as consequences of genetic variants acting in cis or in trans, or in some cases stochastically or through interaction with environmental factors. For many developmental disorders, specific methylation patterns or signatures can be detected in blood DNA. The recent use of high-throughput assays investigating the whole genome has largely increased the number of diseases for which DNA methylation analysis provides information for their diagnosis. Here, we review the methylation abnormalities that have been associated with mono/oligogenic diseases, their relationship with genotype and phenotype and relevance for diagnosis, as well as the limitations in their use and interpretation of results.

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Section: Dna Methylation Analysis In Prenatal Diagnosismentioning

confidence: 99%

DNA Methylation in the Diagnosis of Monogenic Diseases

Cerrato

Sparago

Ariani

et al. 2020

Genes

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“…43 The exact mechanism of this risk is currently unknown; however, it is possible that DNA methylation at imprinted loci might be disturbed by ART, either during culture of the embryos or during other linked procedures, such as superovulation or intracytoplasmic sperm injection. 43 The exact mechanism of this risk is currently unknown; however, it is possible that DNA methylation at imprinted loci might be disturbed by ART, either during culture of the embryos or during other linked procedures, such as superovulation or intracytoplasmic sperm injection.…”

Section: Disruption Of Genomic Imprinting In Humansmentioning

confidence: 99%

“…There is an increased risk for some of the aforementioned imprinting disorders (BWS, Angelman syndrome) in infants conceived via assistive reproductive technology (ART). 43 The exact mechanism of this risk is currently unknown; however, it is possible that DNA methylation at imprinted loci might be disturbed by ART, either during culture of the embryos or during other linked procedures, such as superovulation or intracytoplasmic sperm injection. This is one manifestation of how sensitive epigenetic modifications are to environmental exposure (Principle 3: Environmental sensitivity of epigenetic modifications).…”

Section: Disruption Of Genomic Imprinting In Humansmentioning

confidence: 99%

Clinical epigenetics: a primer for the practitioner

Aygün

Björnsson

2019

Develop Med Child Neuro

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ARTAssistive reproductive technology BWSBeckwith-Wiedemann syndrome MLIDMulti-locus imprinting disorder PWS Prader-Willi syndrome SRS Silver-Russell syndrome TND Transient neonatal diabetes Disruption of epigenetic modifications and the factors that maintain these modifications is rapidly emerging as a cause of developmental disorders. Here we summarize some of the major principles of epigenetics including how epigenetic modifications are: (1) normally reset in the germ line, (2) form an additional layer of interindividual variation, (3) are environmentally sensitive, and (4) change over time in humans. We also briefly discuss the disruption of growth and intellect associated with the Mendelian disorders of the epigenetic machinery and the classical imprinting disorders (such as Beckwith-Wiedemann syndrome, Silver-Russell syndrome, Prader-Willi syndrome, and Angelman syndrome), as well as suggesting some diagnostic considerations for the clinicians taking care of these patients. Finally, we discuss novel therapeutic strategies targeting epigenetic modifications, which may offer a safe alternative to up and coming genome editing strategies for the treatment of genetic diseases. This review provides a starting point for clinicians interested in epigenetics and the role epigenetic disruption plays in human disease.

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“…Expectations are that among 10000 live births following assisted reproductive technology, there will be 3.9 children with Beckwith-Wiedemann syndrome, 3.9 with Angelman syndrome, 2.2 with Prader-Willi syndrome, and 1.5 with Silver-Russell syndrome (or 11.5 cases of any of these disorders). While the frequency of these disorders may be several folds higher following assisted reproductive technology, the absolute risk is low (CORTESSIS, et al 2018).…”

Section: Epigenetic Defects and Assisted Reproductive Technologymentioning

confidence: 99%

“…Keywords: disease, epigenomics, etiopathogenesis EPIGENETICS: DEFINITION AND SIGNIFICANCE Term epigenetics derives from the word epigenesis (development of complex organisms from single cell) (CORTESSIS, et al 2018). In 1942, Conrad Waddington defined epigenetics as the causal interactions between genes and their products that allow phenotypic expression (WADDINGTON, 1942).…”

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confidence: 99%

Epigenetics in disease etiopathogenesis

Glavaški

Stankov

2019

Genetika

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2019): Epigenetics in disease etiopathogenesis.-Genetika, Vol 51, No.3, 975-994. The term epigenetics refers to heritable changes in gene expression that are not caused by modifications in DNA sequence. Epigenetic changes are DNA methylation, histone modifications, nucleosome positioning, and non-coding RNA (including microRNA) mediated modifications. Epigenetic mechanisms are involved in malignant diseases, imprinting defects, and some hereditary diseases. Recent research explained the role of epigenetic disorders in infections, autoimmune, neurodegenerative and bone diseases, as well as in psoriasis, endometriosis, and polycystic ovary syndrome. Epigenetic modifications have a potential clinical application as diagnostic and prognostic biomarkers, and also as therapeutic targets in oncology, endocrinology, cardiology, and neuropsychiatry. Stress, anxiety, depression, emotions and many other psychological factors may affect epigenetic mechanisms. Influence of preconception parental stress exposure transmits to the next generation through epigenetic changes, as direct results of prenatal and postnatal environmental factors. Epigenetic changes identify environmental factors which affect health and cause disease onset. Milk is the sophisticated system of communication between mother and infant, operating via epigenetic mechanisms. Lifelong consumption of bovine milk causes epigenetic disorders. Recent studies provide important information about the role of bioactive dietary nutrients which modify DE SARIO, A. (2009): Clinical and molecular overview of inherited disorders resulting from epigenomic dysregulation. Eur. J. Med. Genet., 52(6): 363-372.

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Comprehensive meta-analysis reveals association between multiple imprinting disorders and conception by assisted reproductive technology

Abstract: Published data reveal positive associations between history of ART conception and each of four imprinting disorders. Reasons for these associations warrant further investigation.

Cited by 88 publications

References 64 publications

DNA Methylation in the Diagnosis of Monogenic Diseases

DNA Methylation in the Diagnosis of Monogenic Diseases

Clinical epigenetics: a primer for the practitioner

Epigenetics in disease etiopathogenesis

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