Peripheral DNA methylation of HPA axis-related genes in humans: Cross-tissue convergence, two-year stability and behavioural and neural correlates

Sante, Jessica Di; Ismaylova, Elmira; Nemoda, Zsófia; Gouin, Jean‐Philippe; Yu, Wei-Jo; Caldwell, Warren; Vitaro, Frank; Szyf, Moshe; Tremblay, Richard E.; Booij, Linda

doi:10.1016/j.psyneuen.2018.07.019

Cited by 29 publications

(22 citation statements)

References 51 publications

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“…Nikolova et al 17 reported an effect of SERT promoter DNAm measured in saliva on amygdala reactivity in 80 young adults and replicated this finding not only in an independent cohort of 323 individuals, but also based on a different tissue (blood) and developmental period (11)(12)(13)(14)(15) year olds). Of note, the effect based on blood tissue in the replication study explained more variance (10.4%) than the effect in the discovery cohort (6.7%), which provides little evidence of a false positive finding due to the 'winner's curse'.…”

Section: Replicationmentioning

confidence: 82%

“…29 For example, Ismaylova et al 24 reported that buccal, rather than saliva or blood-based SERT DNAm, associated with fronto-limbic brain processes. Di Sante et al 13 reported saliva-buccal correlations for FKBP5, but not for NR3C1, which remained stable over a two-year period. However, DNAm (in either gene, tissue or time point) was not related to hippocampal volume.…”

Section: Cross-tissue Correlationmentioning

confidence: 97%

“…Four studies measured either DNAm or MRI (or both) repeatedly, and none more than twice. 10,[13][14][15] For instance, with respect to repeated measures of MRI, McMillan et al 14 assessed grey matter density in 20 individuals, who screened positively for a C9orf72 repeat expansion, and followed up 11 of these participants one year later. The authors reported that C9orf72 promoter hypermethylation was linked to reduced longitudinal decline in grey matter regions, which they interpreted as a potential protective factor against grey matter loss and decline in verbal recall.…”

Section: Repeated Measures (Dnam or Mri)mentioning

confidence: 99%

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A systematic review of neuroimaging epigenetic research: Calling for an increased focus on development

Walton¹,

Vd²,

Heijmans³

et al. 2020

Preprint

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Epigenetic mechanisms, such as DNA methylation (DNAm), have gained increasing attention in the field of neuroimaging as a potential biomarker of -or mechanism mediating -genetic and environmental influences on the brain. Yet, the extent to which DNAm associates with individual differences in the brain -the most relevant organ for the study of psychiatric disorders -is currently unclear.We systematically reviewed research combining structural or functional neuroimaging measures with DNAm to provide an overview of the current state-of-the-art in this new field of research and discuss current challenges.We identified 78 articles, published between 2011 -2019. Most studies investigated DNAm-brain associations in the context of psychiatric and behavioural outcomes (76%), often based on adult (77%) or clinical samples (46%). Only a few studies focussed on risk exposures (21%), developmental periods other than adulthood (23%) or analyzed repeated measures of DNAm or neuroimaging (5%). Studies were highly heterogeneous in design (longitudinal versus cross-sectional), sample characteristics and methods used (candidate-driven versus genome-wide) with relatively few shared practices and common standards. Sample sizes were generally low to moderate (median n=99).On the basis of the strength and weaknesses of existing studies, we recommend how best to address current challenges, including the need for collaborative science to increase comparability across studies. We also advocate for the use of large, prospective, paediatric cohorts with repeated measures of methylation and imaging to draw conclusions about the directionality of associations between these measures.

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Section: Replicationmentioning

confidence: 82%

Section: Cross-tissue Correlationmentioning

confidence: 97%

Section: Repeated Measures (Dnam or Mri)mentioning

confidence: 99%

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A systematic review of neuroimaging epigenetic research: Calling for an increased focus on development

Walton¹,

Vd²,

Heijmans³

et al. 2020

Preprint

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“…DNA methylation provides interesting potentials for psychiatric research, as it can be assessed noninvasively in readily accessible peripheral tissues, such as blood, buccal cells and saliva. The latter is important, given that epigenetic patterns cannot be assessed directly in the brains of living beings [ 11 ]. Although methylation patterns of some genes are tissue-specific [ 11 , 12 ], the idea that peripheral DNA methylation is reflective of brain processes, and thus informative in a mental-health context, has been quite well validated.…”

Section: What Is Dna Methylation?mentioning

confidence: 99%

“…The latter is important, given that epigenetic patterns cannot be assessed directly in the brains of living beings [ 11 ]. Although methylation patterns of some genes are tissue-specific [ 11 , 12 ], the idea that peripheral DNA methylation is reflective of brain processes, and thus informative in a mental-health context, has been quite well validated. First, animal and human postmortem studies have shown that methylation of many genes in peripheral tissues parallels that observed in brain tissues [ 12 ].…”

Section: What Is Dna Methylation?mentioning

confidence: 99%

Applying epigenetic science to the understanding of eating disorders: a promising paradigm for research and practice

Booij

Steiger

2020

Current Opinion in Psychiatry

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Purpose of review Studies indicate that environmental factors, acting at various moments throughout the life cycle, can result in epigenetically mediated alterations in gene expression. In this article, we review recent findings on the role of epigenetic factors in eating disorders, address methodological issues that need to be considered when interpreting research findings, and comment on possible clinical applications. Recent findings Evidence suggests that eating disorders implicate alterations of methylation in genes involved in the mental status, metabolism, anthropometric features and immunity. Furthermore, some research in individuals with anorexia nervosa suggests the presence of reversible, malnutrition-induced epigenetic alterations that ‘reset’ as patients recover. Summary Epigenetic studies in the eating disorders corroborate the idea that eating disorder cause is multifactorial, and identify markers that could help inform our understanding of illness staging and subtyping that may explain the commonly progressive course of these disorders, and that may provide insights towards the development of novel interventions. Already, there is evidence to suggest that, in people with eating disorders, epigenetically informed interventions help reduce stigma and shame, and increase self-acceptance and hopes of recovery. Although findings are intriguing, further research is required as, to date, studies apply modest sample sizes and disparate methodologies.

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Epigenomic Studies of Substance Use

Lax

Szyf

Yadid

2022

Genetics of Substance Use

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Peripheral DNA methylation of HPA axis-related genes in humans: Cross-tissue convergence, two-year stability and behavioural and neural correlates

Cited by 29 publications

References 51 publications

A systematic review of neuroimaging epigenetic research: Calling for an increased focus on development

A systematic review of neuroimaging epigenetic research: Calling for an increased focus on development

Applying epigenetic science to the understanding of eating disorders: a promising paradigm for research and practice

Epigenomic Studies of Substance Use

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