scholarly journals Combined effects of genotype and childhood adversity shape variability of DNA methylation across age

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Darina Czamara ◽  
Elleke Tissink ◽  
Johanna Tuhkanen ◽  
Jade Martins ◽  
Yvonne Awaloff ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Social Services ◽  
Disease Risk ◽  
Childhood Adversity ◽  
Total Sample ◽  
Synaptic Function ◽  
Combined Effects ◽  
Self Reports ◽  
Main Effects ◽  
The Impact

AbstractLasting effects of adversity, such as exposure to childhood adversity (CA) on disease risk, may be embedded via epigenetic mechanisms but findings from human studies investigating the main effects of such exposure on epigenetic measures, including DNA methylation (DNAm), are inconsistent. Studies in perinatal tissues indicate that variability of DNAm at birth is best explained by the joint effects of genotype and prenatal environment. Here, we extend these analyses to postnatal stressors. We investigated the contribution of CA, cis genotype (G), and their additive (G + CA) and interactive (G × CA) effects to DNAm variability in blood or saliva from five independent cohorts with a total sample size of 1074 ranging in age from childhood to late adulthood. Of these, 541 were exposed to CA, which was assessed retrospectively using self-reports or verified through social services and registries. For the majority of sites (over 50%) in the adult cohorts, variability in DNAm was best explained by G + CA or G × CA but almost never by CA alone. Across ages and tissues, 1672 DNAm sites showed consistency of the best model in all five cohorts, with G × CA interactions explaining most variance. The consistent G × CA sites mapped to genes enriched in brain-specific transcripts and Gene Ontology terms related to development and synaptic function. Interaction of CA with genotypes showed the strongest contribution to DNAm variability, with stable effects across cohorts in functionally relevant genes. This underscores the importance of including genotype in studies investigating the impact of environmental factors on epigenetic marks.

scholarly journals Evidence for differences in DNA methylation between Germans and Japanese

2021 ◽  
Author(s):  
J. Becker ◽  
P. Böhme ◽  
A. Reckert ◽  
S. B. Eickhoff ◽  
B. E. Koop ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Age Estimation ◽  
Prediction Models ◽  
Total Sample ◽  
Training Data ◽  
Research Strategies ◽  
Different Populations ◽  
The Impact ◽  
Age Prediction

AbstractAs a contribution to the discussion about the possible effects of ethnicity/ancestry on age estimation based on DNA methylation (DNAm) patterns, we directly compared age-associated DNAm in German and Japanese donors in one laboratory under identical conditions. DNAm was analyzed by pyrosequencing for 22 CpG sites (CpGs) in the genes PDE4C, RPA2, ELOVL2, DDO, and EDARADD in buccal mucosa samples from German and Japanese donors (N = 368 and N = 89, respectively).Twenty of these CpGs revealed a very high correlation with age and were subsequently tested for differences between German and Japanese donors aged between 10 and 65 years (N = 287 and N = 83, respectively). ANCOVA was performed by testing the Japanese samples against age- and sex-matched German subsamples (N = 83 each; extracted 500 times from the German total sample). The median p values suggest a strong evidence for significant differences (p < 0.05) at least for two CpGs (EDARADD, CpG 2, and PDE4C, CpG 2) and no differences for 11 CpGs (p > 0.3).Age prediction models based on DNAm data from all 20 CpGs from German training data did not reveal relevant differences between the Japanese test samples and German subsamples. Obviously, the high number of included “robust CpGs” prevented relevant effects of differences in DNAm at two CpGs.Nevertheless, the presented data demonstrates the need for further research regarding the impact of confounding factors on DNAm in the context of ethnicity/ancestry to ensure a high quality of age estimation. One approach may be the search for “robust” CpG markers—which requires the targeted investigation of different populations, at best by collaborative research with coordinated research strategies.

scholarly journals Updates to data versions and analytic methods influence the reproducibility of results from epigenome-wide association studies

2021 ◽  
Author(s):  
Alexandre A. Lussier ◽  
Yiwen Zhu ◽  
Brooke J. Smith ◽  
Andrew J. Simpkin ◽  
Andrew D.A.C. Smith ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Association Studies ◽  
Childhood Adversity ◽  
Reference Points ◽  
Time Dependent ◽  
P Value ◽  
Prenatal Smoking ◽  
Parents And Children ◽  
Successful Replication ◽  
The Impact

ABSTRACTIntroductionBiomedical research has grown increasingly cooperative, with several large consortia compiling and sharing epigenomic data. Since data are typically preprocessed by consortia prior to distribution, the implementation of new pipelines can lead to different versions of the same dataset. Analytic frameworks also constantly evolve to incorporate cutting-edge methods and shifting best practices. However, it remains unknown how differences in data and analytic versions alter the results of epigenome-wide analyses, which has broad implications for the replicability of epigenetic associations. Thus, we assessed the impact of these changes using a subsample of the Avon Longitudinal Study of Parents and Children (ALSPAC) cohort.MethodsWe analyzed two versions of DNA methylation data, processed using separate preprocessing and analytic pipelines, to examine associations between childhood adversity and prenatal smoking exposure on DNA methylation at age 7. We performed two sets of analyses: (1) epigenome-wide association studies (EWAS); (2) Structured Life Course Modeling Approach (SLCMA), a two-stage method that models time-dependent effects. We also compared results from the SLCMA using more recent methodological recommendations.ResultsDifferences between ALSPAC data versions impacted both EWAS and SLCMA analyses, yielding different sets of associations at conventional p-value thresholds. However, the magnitude and direction of associations was generally consistent between data versions, regardless of significance thresholds. Updating the SLCMA analytic version similarly altered top associations, but time-dependent effects remained concordant.ConclusionsChanges to data and analytic versions influenced the results of epigenome-wide studies, particularly when using p-value thresholds as reference points for successful replication and stability.

scholarly journals COVID-19-Related Psychological and Psychosocial Distress Among Parents and Youth With Physical Illness: A Longitudinal Study

2021 ◽  
Vol 12 ◽  
Author(s):  
Mark A. Ferro ◽  
Samantha B. Meyer ◽  
Jennifer Yessis ◽  
Shannon V. Reaume ◽  
Ellen Lipman ◽  
...  
Keyword(s):  
Psychological Distress ◽  
Longitudinal Study ◽  
Social Services ◽  
Parental Stress ◽  
Psychosocial Health ◽  
Psychosocial Distress ◽  
Physical Illness ◽  
Self Reports ◽  
The Impact ◽  
Parent Proxy

Despite the initial thrust of research aimed at understanding the impact of the COVID-19 pandemic on youth with physical illness and their parents, knowledge gaps in the literature remain, providing the impetus for additional investigation. This study described changes in psychological distress from prior to during the COVID-19 pandemic for parents and youth with physical illness, compared parent-proxy and youth self-reported perceptions of COVID-19-related psychosocial health, and modeled factors associated with psychological and psychosocial distress. There were 147 parent–youth dyads (2–16 years) from MY LIFE—a longitudinal study of youth with physical illness. The Kessler-6 (K6) measured psychological distress for the time before the COVID-19 lockdown (December 19 to March 20) and during the pandemic (December 20 to March 21) among parents and youth. COVID-19-related psychosocial health was measured using the CRISIS. Parents and youth reported increases in K6 scores (d = 0.62 and 0.38). Parent-proxy reports on the K6 were lower vs. youth self-reports prior to and during the pandemic (d = 0.63 for both). In contrast, parents reported lower proxy CRISIS scores for worries (d = 0.38) and effects of social restrictions (d = 0.52). Pandemic parent K6 scores were associated with age, combined in-person and online schooling for youth, COVID-19-related worries, and effects of social restrictions. For youth, only COVID-19-related worries and effects of social restrictions were associated with K6 scores. Parent worries were associated with youth sex, parental stress, family functioning, online and combination learning, and social restrictions. Parental depression and worries were associated with effects of social restrictions. Youth worries were associated with online and combination learning, and social restrictions. Youth disability, online learning, and worries were associated with effects of social restrictions. Few clinical factors are associated with COVID-19-related psychological and psychosocial distress. Instead, parent/family factors and youth learning environment have prominent roles in predicting outcomes and have implications for the health, education, and social services systems.

Folate and DNA methylation during in utero development and aging

2004 ◽  
Vol 32 (6) ◽  
pp. 1006-1007 ◽  
Author(s):  
J.A. McKay ◽  
E.A. Williams ◽  
J.C. Mathers
Keyword(s):  
Dna Methylation ◽  
Folic Acid ◽  
Disease Risk ◽  
Neurological Diseases ◽  
Later Life ◽  
In Utero ◽  
Dietary Factors ◽  
Development And Aging ◽  
In Utero Development ◽  
The Impact

DNA methylation is one of several epigenetic mechanisms that play a regulatory role in genome programming and imprinting during embryogenesis. Aberrant DNA methylation has been implicated in the pathogenesis of a number of diseases associated with aging, including cancer and cardiovascular and neurological diseases. Evidence is accumulating that dietary factors in utero modulate disease risk in later life. Although folic acid is a key component of DNA methylation, the impact of folic acid availability in utero on DNA methylation patterns and disease risk in adulthood is at present poorly characterized. This review describes the relationship between folic acid and DNA methylation, and the association between DNA methylation during in utero development and aging.

THE IMPACT OF COMPETENCY ENTREPRENEURSHIP ON MICRO, SMALL, MEDIUM ENTERPRISES PERFORMANCE

2018 ◽  
Vol 1 (1) ◽  
pp. 31
Author(s):  
Elsa Nanda Utami ◽  
Hendrati Dwi Mulyaningsih
Keyword(s):  
Quantitative Research ◽  
Sampling Technique ◽  
Total Sample ◽  
Mentoring Program ◽  
Financial Term ◽  
Simple Regression Analysis ◽  
Small Medium Enterprises ◽  
Medium Enterprises ◽  
The Impact ◽  
Necessity Entrepreneur

This reasearch is conducted on MSME (Micro Small Medium Enterprises) that are participated in the MSME Syari’ah Mentoring Program by Academition and Practitioners (PUSPA) organized by Bank Indonesia in Bandung. MSME who participated in PUSPA program 2016 is MSME that included in necessity entrepreneur where MSME operated just to fullfil the life necessities. This program aims to improve the competence of entrepreneurship owned by MSME in term of knowledge, attitudes, and skills. Increased in the entrepreneurial comptence will have an impact on MSME perfomance both on financial term by the increase in income and non-financial term namely by the increased of the knowledge and skills like simple accounting, managing the production process, how to market the product, and know the procedures for obtaining the venture capital. The purpose of this reasearch was to investigate the influence of the entrepreneurial competence on the MSME performance in PUSPA program 2016.Researcher used quantitative research method. This research use sampling technique on non-probability sampling that is saturated sampling because the members of population less than 30 people and the entire population is a sample. Total sample in this research is 20 respondents. Data collecting in this research is done by distributing questionarries to all respondents that is MSME that pariticaped in PUSPA program 2016. Data were analyzed using simple regression analysis and descriptive-causal analysis.The result showed that entrepreneurial competenec affect the performance of MSME that participated in PUSPA Program 2016. Based on the calculation, coefficent of determination (R2) can be seen the influence of entrepreneurial compentence variable (X) on the performance (Y) is 61.7%. While the remaining 38.3 is influenced by other factors such as mentoring, motivation, and human resources.

Epigenetic Studies in Psychotherapy: A Systematic Review

2020 ◽  
Vol 16 (2) ◽  
pp. 86-92
Author(s):  
Rafael Penadés ◽  
Bárbara Arias ◽  
Mar Fatjó-Vilas ◽  
Laura González-Vallespí ◽  
Clemente García-Rizo ◽  
...  
Keyword(s):  
Systematic Review ◽  
Dna Methylation ◽  
Mental Disorders ◽  
Epigenetic Modifications ◽  
Symptom Improvement ◽  
Epigenetic Changes ◽  
Main Hypothesis ◽  
Psychological Treatments ◽  
Time Period ◽  
The Impact

Background: Epigenetic modifications appear to be dynamic and they might be affected by environmental factors. The possibility of influencing these processes through psychotherapy has been suggested. Objective: To analyse the impact of psychotherapy on epigenetics when applied to mental disorders. The main hypothesis is that psychological treatments will produce epigenetic modifications related to the improvement of treated symptoms. Methods: A computerised and systematic search was completed throughout the time period from 1990 to 2019 on the PubMed, ScienceDirect and Scopus databases. Results: In total, 11 studies were selected. The studies were evaluated for the theoretical framework, genes involved, type of psychotherapy and clinical challenges and perspectives. All studies showed detectable changes at the epigenetic level, like DNA methylation changes, associated with symptom improvement after psychotherapy. Conclusion: Methylation profiles could be moderating treatment effects of psychotherapy. Beyond the detected epigenetic changes after psychotherapy, the epigenetic status before the implementation could act as an effective predictor of response.

scholarly journals DNA methylation and gene expression integration in cardiovascular disease

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Guillermo Palou-Márquez ◽  
Isaac Subirana ◽  
Lara Nonell ◽  
Alba Fernández-Sanlés ◽  
Roberto Elosua
Keyword(s):  
Gene Expression ◽  
Cardiovascular Disease ◽  
Dna Methylation ◽  
Cardiovascular Diseases ◽  
Disease Risk ◽  
Cardiovascular Disease Risk ◽  
Risk Function ◽  
Predictive Biomarkers ◽  
Independent Study ◽  
Cell Type

Abstract Background The integration of different layers of omics information is an opportunity to tackle the complexity of cardiovascular diseases (CVD) and to identify new predictive biomarkers and potential therapeutic targets. Our aim was to integrate DNA methylation and gene expression data in an effort to identify biomarkers related to cardiovascular disease risk in a community-based population. We accessed data from the Framingham Offspring Study, a cohort study with data on DNA methylation (Infinium HumanMethylation450 BeadChip; Illumina) and gene expression (Human Exon 1.0 ST Array; Affymetrix). Using the MOFA2 R package, we integrated these data to identify biomarkers related to the risk of presenting a cardiovascular event. Results Four independent latent factors (9, 19, 21—only in women—and 27), driven by DNA methylation, were associated with cardiovascular disease independently of classical risk factors and cell-type counts. In a sensitivity analysis, we also identified factor 21 as associated with CVD in women. Factors 9, 21 and 27 were also associated with coronary heart disease risk. Moreover, in a replication effort in an independent study three of the genes included in factor 27 were also present in a factor identified to be associated with myocardial infarction (CDC42BPB, MAN2A2 and RPTOR). Factor 9 was related to age and cell-type proportions; factor 19 was related to age and B cells count; factor 21 pointed to human immunodeficiency virus infection-related pathways and inflammation; and factor 27 was related to lifestyle factors such as alcohol consumption, smoking and body mass index. Inclusion of factor 21 (only in women) improved the discriminative and reclassification capacity of the Framingham classical risk function and factor 27 improved its discrimination. Conclusions Unsupervised multi-omics data integration methods have the potential to provide insights into the pathogenesis of cardiovascular diseases. We identified four independent factors (one only in women) pointing to inflammation, endothelium homeostasis, visceral fat, cardiac remodeling and lifestyles as key players in the determination of cardiovascular risk. Moreover, two of these factors improved the predictive capacity of a classical risk function.

scholarly journals OP0082-PARE THE EFFECT COVID-19 HAS ON THE MENTAL HEALTH OF PEOPLE LIVING WITH RHEUMATIC DISEASES. FROM DATA TO INTERVENTIONS.

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 44-45
Author(s):  
S. Mingolla ◽  
A. Celano ◽  
M. Santopietro
Keyword(s):  
Mental Health ◽  
Rheumatic Diseases ◽  
Rare Diseases ◽  
Psychological Impact ◽  
Well Being ◽  
Total Sample ◽  
Support Service ◽  
Health Condition ◽  
National Association ◽  
The Impact

Background:Covid-19 has had an important impact on the mental health conditions of over 5 million Italians suffering from one of the over 150 rheumatic diseases. In order to understand the psychological impact of the Covid-19 emergency and the restrictions imposed to counter it, the Italian National Association of People with Rheumatic and Rare Diseases – APMARR APS launched the research “Living with a rheumatic pathology”.Objectives:Gather data directly from Italian patients about the impact of the COVID-19 and consequent restrictions on their mental health and feelings; evaluate the most effective intervention to be implemented to face the pandemic by Patients organization.Methods:A qualitative-quantitative survey was carried out through a questionnaire administered throughout the national territory to a sample of N = 1,001 people. The people invited to complete the questionnaire were women (55,9%) and men (44,1%), aged 18-85 years (age 18-41=26,7%; age 42-65=64%; age >65=9,3%) with at least one rheumatic pathology. The questionnaire was made up of 39 questions, of which 29 were closed and 10 were open. For the administration of the questionnaires, the CAWI (Computer Aided Web Interview) methodology of on-line survey was used. The 1,001 interviews were carried out from 7 to 14 August 2020.Results:More than 4 out of 10 people (total sample 44.2%; male 60%, female 35,7%; age 18-41=39,1%; age 42-65=45,9%; age >65 = 50%) declared that the emergency period has somehow caused a worsening of their health condition. People declared that the deterioration of their health is due to the emergency period for the following reasons: 1) Psychological: such as stress and anxiety: “Too much stress and anxiety made the symptoms worse.”; “The stress of the quarantine affected my problem”; “Insomnia. Nervousness. General ailments. Depression. Strong stress” 2) Inability to perform physiotherapy and motor activities due to the lockdown 3) Postponement of examinations, visits and checks 4) remote working, in some cases described as harmful for people’s mental and physical health: “Due to Covid19 I had to do remote working and I worked even 12 hours a day including holidays to the detriment of my family life”.Furthermore, from January 31, 2020 a significant increase emerged in communication problems with rheumatology specialist compared to the period before the emergency due to Covid-19. The sharp increase may be due to the situation of severe psychological stress to which also the doctors were subjected in the emergency phase: people could not find the comfort of being empathically listened to.Conclusion:The research shows that the most frequent symptoms among people with rheumatic diseases were depression and high levels of anxiety due to strong emotional stress. Psychological malaise caused direct effects in worsening the symptoms of rheumatic disease as well as other related effects, for example, insomnia. The forced isolation due to the lockdown has made people lack the social support that is fundamental for the psychological well-being especially for those suffering from some chronic pathology. Starting from the data collected, APMARR promptly activated a completely free psychological support service with 6 professional psychologists, two of them specialized in emergency psychology. The service is accessible online and is still going on for all who are not able to overcome the anxiety and fear related to the pandemic and its evolution. Thousands of accesses to the service have been measured to date.References:S Mingolla1, A Celano1, M Santopietro2[1]NATIONAL ASSOCIATION OF PEOPLE WITH RHEUMATIC AND RARE DISEASES - APMARR APS[2]WeResearch. Ricerche di marketingDisclosure of Interests:None declared

scholarly journals Evaluating interventions with victims of intimate partner violence: a community psychology approach

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Cinzia Albanesi ◽  
Carlo Tomasetto ◽  
Veronica Guardabassi
Keyword(s):  
Intimate Partner Violence ◽  
Social Services ◽  
Psychological Health ◽  
Partner Violence ◽  
Process Model ◽  
Professional Training ◽  
Phenomenological Approach ◽  
Intimate Partner ◽  
Structured Interviews ◽  
The Impact

Abstract Purpose Intimate Partner Violence (IPV) is one of the most common forms of domestic violence, with profound implication for women's physical and psychological health. In this text we adopted the Empowerment Process Model (EPM) by Cattaneo and Goodman (Psychol Violence 5(1):84–94) to analyse interventions provided to victims of IPV by a Support Centre for Women (SCW) in Italy, and understand its contribution to women’s empowerment. Method We conducted semi-structured interviews with ten women who had been enrolled in a program for IPV survivors at a SCW in the past three years. The interviews focused on the programs’ aims, actions undertaken to reach them, and the impact on the women’s lives, and were analysed using an interpretative phenomenological approach. Results Results showed that the interventions provided by the SWC were adapted according to women's needs. In the early phases, women’s primary aim was ending violence, and the intervention by the SCW was deemed as helpful to the extent it provided psychological support, protection and safe housing. Women’s aims subsequently moved to self-actualisation and economic and personal independence which required professional training, internships, and social support. Although satisfying the majority of the women’s expectations, other important needs (e.g., economic support or legal services) were poorly addressed, and cooperation with other services (e.g., police or social services) was sometimes deemed as critical. Conclusions By evaluating a program offered by a SCW to IPV survivors through the lens of the EPM model, we found that women deemed the program as effective when both individual resources and empowerment processes were promoted. Strengths, limitations and implications are discussed.

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