How to interpret epigenetic association studies: a guide for clinicians

Riancho, Javier; Real, Álvaro del; Riancho, José A.

doi:10.1038/bonekey.2016.24

Cited by 19 publications

(14 citation statements)

References 77 publications

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“…For example, recently it has been demonstrated that the trimethylation of lysine 36 in histone H3 (by convention, H3K36me3) stimulates acetylation of lysine 16 in histone 4 (H4K16ac) [ 14 ]. Some histone modifications are also associated with DNA methylation at CpG islands, CpG-rich regions that are present in the promoters of many genes [ 9 ]. A simultaneous analysis of the genome, epigenome, and transcriptome (the set of genes expressed in a given state) [ 15 ] enriches the chances of elucidating how an epigenetic marker might influence the expression of a specific gene.…”

Section: Introductionmentioning

confidence: 99%

Epigenetic Markers and Microbiota/Metabolite-Induced Epigenetic Modifications in the Pathogenesis of Obesity, Metabolic Syndrome, Type 2 Diabetes, and Non-alcoholic Fatty Liver Disease

et al. 2019

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Purpose of Review The metabolic syndrome is a pathological state in which one of the key components is insulin resistance. A wide spectrum of body compartments is involved in its pathophysiology. Genetic and environmental factors such as diet and physical activity are both related to its etiology. Reversible modulation of gene expression without altering the DNA sequence, known as epigenetic modifications, has been shown to drive this complex metabolic cluster of conditions. Here, we aim to examine some of the recent research of specific epigenetically mediated mechanisms and microbiota-induced epigenetic modifications on the development of adipose tissue and obesity, β-cell dysfunction and diabetes, and hepatocytes and non-alcoholic fatty disease. Recent Findings DNA methylation patterns and histone modifications have been identified in this context; the integrated analysis of genome, epigenome, and transcriptome is likely to expand our knowledge of epigenetics in health and disease. Epigenetic modifications induced by diet-related microbiota or metabolites possibly contribute to the insulin-resistant state. Summary The identification of epigenetic signatures on diabetes and obesity may give us the possibility of developing new interventions, prevention measures, and follow-up strategies.

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Section: Introductionmentioning

confidence: 99%

Epigenetic Markers and Microbiota/Metabolite-Induced Epigenetic Modifications in the Pathogenesis of Obesity, Metabolic Syndrome, Type 2 Diabetes, and Non-alcoholic Fatty Liver Disease

et al. 2019

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“…It has been recently suggested that epigenetic studies − at least those employing genome-wide association analyses − should consider a sample size of at least 100 people per group, to allow for multiple comparison. 72 Second, some studies showed high risk of bias, thus challenging the validity of some results. Third, studies included are mostly cross-sectional in nature, and no speculation on causative mechanisms can be done.…”

Section: Discussionmentioning

confidence: 99%

Epigenetic and miRNA Expression Changes in People with Pain: A Systematic Review

Polli

Godderis

Ghosh

et al. 2020

The Journal of Pain

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Accumulating evidence suggests that epigenetic mechanisms may hold great potential in the field of pain. We systematically reviewed the literature exploring epigenetic mechanisms in people with pain. Four databases have been interrogated: MEDLINE, The Cochrane Central Register of Controlled Trial, Scopus, and Web of Science, following PRISMA guidelines in conducting study selection and assessment. Thirty-seven studies were included. Studies explored epigenetics in conditions such as fibromyalgia, CRPS, neuropathies, or osteoarthritis. Research focussed on genome-wide and gene-specific DNA methylation, and miRNA expression. Bioinformatics analyses exploring miRNAassociated molecular pathways were also performed. Several genes already known for their role in pain (BDNF, HDAC4, PRKG1, IL-17, TNFRSF13B, etc.), and several miRNAs linked to inflammatory regulation, nociceptive signalling and protein kinases functions have been found to differ significantly between people with chronic pain and healthy controls. Although the studies included were crosssectional in nature, and no conclusion on causal links between epigenetic changes and pain could be drawn, we summarised the large amount of data available in literature on the topic, highlighting results that have been replicated by independent investigations. The field of pain epigenetics appears very exciting and has all the potential to lead to remarkable scientific advances. However, high-quality, well-powered, longitudinal studies are warranted. Perspective: Though more high-quality research is needed, available research exploring epigenetic mechanisms or miRNAs in people with pain shows that genes regulating synaptic plasticity and excitability, protein kinases, and elements of the immune system might hold great potential in understanding the pathophysiology of different conditions.

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“…Epigenetics refers to ‘heritable changes in gene expression not caused by changes in the DNA sequence’, which was first used by Conrad Hal Waddington in approximately 1950 [ 19 ]. Although there is no change in the genetic information of DNA, the mechanisms to induce epigenetic changes include DNA methylation, histone modification, and microRNAs [ 20 ]. Thus, in 2007, Bird [ 21 ] proposed to redefine epigenetics as ‘the structural adaptation of chromosomal regions’.…”

Section: Epigenetic Interpretation Of the Hygiene Hypothesismentioning

confidence: 99%

“…Exposure factors that cause epigenetic variations include the lifestyle of parents, such as smoking, alcohol consumption, and diet [ 25 ], and the exposure to various physical, chemical, biological, and social environments during early life [ 14 , 16 , 26 , 27 ]. The resulting diseases include allergies and autoimmune diseases, as well as various complex diseases such as cancer, diabetes mellutus, obesity, arteriosclerosis, autism, and mental diseases, et cetera [ 17 , 20 , 22 ]. Furthermore, the inter-generational transmission phenomenon that inherits diseases resulted from epigenetic alteration should become another subject of study [ 14 ].…”

Section: Suggestion Of Epigenetic Epidemiologymentioning

confidence: 99%

“…Given the burden of cancer and cardiovascular diseases, which represents the major causes of mortality in Korea, a nationwide epigenetic epidemiology study is of great importance. Moreover, the sample types, collection timing, and sample size for epigenetic epidemiology studies are significantly different from those of the genomic epidemiology studies [ 20 , 26 ], so that a foundation for the study of epigenetic epidemiology should be newly established in Korea, which would facilitate gene-environment-wide interaction studies [ 29 , 30 ], the ultimate goal of epidemiology.…”

Section: Suggestion Of Epigenetic Epidemiologymentioning

confidence: 99%

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Interpretation of the hygiene and microflora hypothesis for allergic diseases through epigenetic epidemiology

Bae

2018

Epidemiol Health

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The hygiene hypothesis (HH) proposed by Strachan in 1989 was expanded to explain the inverse association between the occurrence of allergy disorders and the risk of infectious diseases and parasite infestation. The microflora hypothesis (MH) suggests that gut microbial dysbiosis in early life might trigger hypersensitivity disorders. The sharing concept of both HH and MH is gene-environment interaction, which is also a key concept in epigenetics. The amalgamation of epidemiology and epigenetics has created a scientific discipline termed epigenetic epidemiology. To accomplish an era of gene-environment-wide interaction studies, it is necessary to launch a national human epigenome project.

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How to interpret epigenetic association studies: a guide for clinicians

Cited by 19 publications

References 77 publications

Epigenetic Markers and Microbiota/Metabolite-Induced Epigenetic Modifications in the Pathogenesis of Obesity, Metabolic Syndrome, Type 2 Diabetes, and Non-alcoholic Fatty Liver Disease

Epigenetic Markers and Microbiota/Metabolite-Induced Epigenetic Modifications in the Pathogenesis of Obesity, Metabolic Syndrome, Type 2 Diabetes, and Non-alcoholic Fatty Liver Disease

Epigenetic and miRNA Expression Changes in People with Pain: A Systematic Review

Interpretation of the hygiene and microflora hypothesis for allergic diseases through epigenetic epidemiology

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