scholarly journals Systematic review of lung function and COPD with peripheral blood DNA methylation in population based studies

2017 ◽  
Vol 17 (1) ◽  
Author(s):  
Matthew Machin ◽  
◽  
André F. S. Amaral ◽  
Matthias Wielscher ◽  
Faisal I. Rezwan ◽  
...  
PLoS ONE ◽  
2021 ◽  
Vol 16 (8) ◽  
pp. e0256158
Author(s):  
Nicolas Fragoso-Bargas ◽  
Julia O. Opsahl ◽  
Nadezhda Kiryushchenko ◽  
Yvonne Böttcher ◽  
Sindre Lee-Ødegård ◽  
...  

Pregnancy is a valuable model to study the association between DNA methylation and several cardiometabolic traits, due to its direct potential to influence mother’s and child’s health. Epigenetics in Pregnancy (EPIPREG) is a population-based sample with the aim to study associations between DNA-methylation in pregnancy and cardiometabolic traits in South Asian and European pregnant women and their offspring. This cohort profile paper aims to present our sample with genetic and epigenetic data and invite researchers with similar cohorts to collaborative projects, such as replication of ours or their results and meta-analysis. In EPIPREG we have quantified epigenome-wide DNA methylation in maternal peripheral blood leukocytes in gestational week 28±1 in Europeans (n = 312) and South Asians (n = 168) that participated in the population-based cohort STORK Groruddalen, in Norway. DNA methylation was measured with Infinium MethylationEPIC BeadChip (850k sites), with technical validation of four CpG sites using bisulphite pyrosequencing in a subset (n = 30). The sample is well characterized with few missing data on e.g. genotype, universal screening for gestational diabetes, objectively measured physical activity, bioelectrical impedance, anthropometrics, biochemical measurements, and a biobank with maternal serum and plasma, urine, placenta tissue. In the offspring, we have repeated ultrasounds during pregnancy, cord blood, and anthropometrics up to 4 years of age. We have quantified DNA methylation in peripheral blood leukocytes in nearly all eligible women from the STORK Groruddalen study, to minimize the risk of selection bias. Genetic principal components distinctly separated Europeans and South Asian women, which fully corresponded with the self-reported ethnicity. Technical validation of 4 CpG sites from the methylation bead chip showed good agreement with bisulfite pyrosequencing. We plan to study associations between DNA methylation and cardiometabolic traits and outcomes.


2021 ◽  
Author(s):  
Nicolas Fragoso-Bargas ◽  
Julia O. Opsahl ◽  
Nadezhda Kiryushchenko ◽  
Yvonne Böttcher ◽  
Sindre Lee-Ødegård ◽  
...  

ABSTRACTPurposePregnancy is a valuable model to study the association between DNA methylation and several cardiometabolic traits, due to its direct potential to influence mother’s and child’s health. Epigenetics in Pregnancy (EPIPREG) is a population-based sample with the aim to study associations between DNA-methylation in pregnancy and cardiometabolic traits in South Asian and European pregnant women and their offspring.ParticipantsIn EPIPREG we have quantified epigenome-wide DNA methylation in maternal peripheral blood leukocytes in gestational week 28±1 in Europeans (n=312) and South Asians (n=168) that participated in the population-based cohort STORK Groruddalen, in Norway. DNA methylation was measured with Infinium MethylationEPIC Kit (850k sites), with technical validation of four CpG sites using bisulphite pyrosequencing in a subset (n=30). The sample is well characterized with few missing data on e.g. genotype, universal screening for gestational diabetes, objectively measured physical activity, bioelectrical impedance, anthropometrics, biochemical measurements, and a biobank with maternal serum and plasma, urine, placenta tissue. In offspring, we have repeated ultrasounds during pregnancy, cord blood, and anthropometrics up to 4 years of age.Results to dateWe have quantified DNA methylation in peripheral blood leukocytes in nearly all eligible women from the STORK Groruddalen study, to minimize the risk of selection bias. Genetic principal components distinctly separated Europeans and South Asian women, which fully corresponded with the self-reported ethnicity. Technical validation of 4 CpG sites from the methylation bead chip showed high concordance with bisulfite pyrosequencing (R=0.98, p<0.001).Future plansWe plan to study associations between DNA methylation and cardiometabolic traits and outcomes. We hope to identify cohorts with similar data to replicate our findings, collaborate on joint efforts such as meta-analysis, and serve as a replication cohort for other studies.Strengths and limitations of this study-Epigenome-wide DNA methylation data in maternal peripheral blood leukocytes in gestational week 28±1 in 312 Europeans and 168 South Asians living in Norway-EPIPREG’s population-based design and comprehensive phenotyping allows for studies of a wide range of phenotypic traits, exposures and outcomes in relation to DNA methylation-The inclusion of women with both European and South Asian ethnic background enables interesting studies into the role of DNA methylation in ethnic disparities in health.-The wide range of collected phenotypes, exposures and outcomes makes the EPIPREG sample well suited to serve as a replication cohort for other cohorts with DNA methylation data-The EPIPREG sample has limited statistical power for epigenome-wide association studies, and we are interested in collaborative efforts such as meta-analysis of several cohorts


2011 ◽  
Vol 29 (9) ◽  
pp. 1133-1139 ◽  
Author(s):  
Carmen J. Marsit ◽  
Devin C. Koestler ◽  
Brock C. Christensen ◽  
Margaret R. Karagas ◽  
E. Andres Houseman ◽  
...  

Purpose Epigenetic alterations in tissues targeted for cancer play a causal role in carcinogenesis. Changes in DNA methylation in nontarget tissues, specifically peripheral blood, can also affect risk of malignant disease. We sought to identify specific profiles of DNA methylation in peripheral blood that are associated with bladder cancer risk and therefore serve as an epigenetic marker of disease susceptibility. Methods We performed genome-wide DNA methylation profiling on participants involved in a population-based incident case-control study of bladder cancer. Results In a training set of 112 cases and 118 controls, we identified a panel of 9 CpG loci whose profile of DNA methylation was significantly associated with bladder cancer in a masked, independent testing series of 111 cases and 119 controls (P < .0001). Membership in three of the most methylated classes was associated with a 5.2-fold increased risk of bladder cancer (95% CI, 2.8 to 9.7), and a model that included the methylation classification, participant age, sex, smoking status, and family history of bladder cancer was a significant predictor of bladder cancer (area under the curve, 0.76; 95% CI, 0.70 to 0.82). CpG loci associated with bladder cancer and aging had neighboring sequences enriched for transcription-factor binding sites related to immune modulation and forkhead family members. Conclusion These results indicate that profiles of epigenetic states in blood are associated with risk of bladder cancer and signal the potential utility of epigenetic profiles in peripheral blood as novel markers of susceptibility to this and other malignancies.


2012 ◽  
Vol 26 (6) ◽  
pp. 2657-2666 ◽  
Author(s):  
Xinran Xu ◽  
Marilie D. Gammon ◽  
Hector Hernandez‐Vargas ◽  
Zdenko Herceg ◽  
James G. Wetmur ◽  
...  

Respirology ◽  
2021 ◽  
Vol 26 (10) ◽  
pp. 938-959
Author(s):  
Daniel O. Okyere ◽  
Dinh S. Bui ◽  
George R. Washko ◽  
Caroline J. Lodge ◽  
Adrian J. Lowe ◽  
...  

2018 ◽  
Author(s):  
Soo Jung Kim ◽  
Han-Na Kim ◽  
Su Hwan Lee ◽  
Yeojun Yun ◽  
Eun Ju Lee ◽  
...  

2020 ◽  
Vol 16 (2) ◽  
pp. 86-92
Author(s):  
Rafael Penadés ◽  
Bárbara Arias ◽  
Mar Fatjó-Vilas ◽  
Laura González-Vallespí ◽  
Clemente García-Rizo ◽  
...  

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.


BMJ Open ◽  
2020 ◽  
Vol 10 (12) ◽  
pp. e040965
Author(s):  
Sandra Miriam Kawa ◽  
Signe Benzon Larsen ◽  
John Thomas Helgstrand ◽  
Peter Iversen ◽  
Klaus Brasso ◽  
...  

ObjectiveTo investigate the risk of prostate cancer-specific mortality (PCSM) following initial negative systematic transrectal ultrasound-guided (TRUS) prostate biopsies.DesignSystematic review.Data sourcesPubMed and Embase were searched using a string combination with keywords/Medical Subject Headings terms and free text in the search builder. Date of search was 13 April 2020.Study selectionStudies addressing PCSM following initial negative TRUS biopsies. Randomised controlled trials and population-based studies including men with initial negative TRUS biopsies reported in English from 1990 until present were included.Data extractionData extraction was done using a predefined form by two authors independently and compared with confirm data; risk of bias was assessed using the Newcastle–Ottawa Scale for cohort studies when applicable.ResultsFour eligible studies were identified. Outcomes were reported differently in the studies as both cumulative incidence and Kaplan-Meier estimates have been used. Regardless of the study differences, all studies reported low estimated incidence of PCSM of 1.8%–5.2% in men with negative TRUS biopsies during the following 10–20 years. Main limitation in all studies was limited follow-up.ConclusionOnly a few studies have investigated the risk of PCSM following initial negative biopsies and all studies included patients before the era of MRI of the prostate. However, the studies point to the fact that the risk of PCSM is low following initial negative TRUS biopsies, and that the level of prostate-specific antigen before biopsies holds prognostic information. This may be considered when advising patients about the need for further diagnostic evaluation.PROSPERO registration numberCRD42019134548.


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