View clinical trials related to Epigenetics.
Filter by:Vasomotor symptoms are the most common symptoms seen during climacterium. The hypoestrogenic state causes dysfunction of hypothalamic preoptic area, a thermoregulatory center. The sympathetic overactivation during the hot flashes is associated with awakening during sleep and have a negative impact on cardiac indexes and vascular reactivity. Therefore, hot flashes are accepted as subclinical cardiovascular risk factor. The association between the severity of the hot flashes and cardiovascular risk may have an epigenetic background. Recently, methylation changes of DNA was found to be associated with clinical and subclinical cardiovascular disease risk (atherosclerosis and hypertension etc.). A transposable element in the DNA, Long interspersed nuclear elements (LINE-1), was found to be hypomethylated in cases with ischemic heart disease and stroke. Therefore, the expression of repeating elements in the DNA (LINE-1 and ALU) may be considered as a mediator in the ischemic heart disease. Until now, menopausal age, vasomotor symptoms and epigenetic and biological aging have been evaluated. However, the epigenetic impact of severe vasomotor symptoms in postmenopausal women with low cardiovascular disease risk profile has not been evaluated. In this study, we aimed to evaluate the epigenetic basis of cardiovascular disease risk for women with vasomotor symptoms which disturb sleep by assessing the methylation levels of ALU and LINE-1.
Head and neck squamous cell carcinoma (HNSCC) are malignant tumors originating from the epithelial mucosa of the upper aerodigestive tract. The oral cavity is the most frequent location of HNSCC (oral squamous cell carcinoma: OSCC). Tobacco use and alcohol consumption are the greatest risk factors. The Hauts de France region has one of the highest incidence rates of OSCC. The overall survival of patients with OSCC remains low, with a 5-year overall survival rate of around 60%. In addition to the oncological prognosis, OSCCs and their treatment have a significant impact on the quality of life of patients. An early diagnosis of OSCC is recommended, but it remains difficult. It can be for example challenging to diagnose OSCC in a context of oral premalignant lesions. Identifying objective biomarkers of malignancy would be an advantage and would allow better progress in the field of precision medicine and surgery for these tumors. The investigators propose to establish the diagnostic use of an optimized DNA methylation profile detected in the saliva of OSCC patients by comparing these epigenetic marks before and after tumor resection. The investigators will construct a consolidated signature of 4 genes whose DNA is subject to methylation and gene expression is restricted to cancer cells, by crossing TCGA analysis with single-cell analysis (single-cell RNA sequencing). The investigators propose to analyse DNA methylation of the corresponding genes in the saliva of n=30 OSCC patients recruited for primary surgical resection in the Department of Maxillofacial Surgery vs controls. In addition, the investigators will examine the methylation profiles before / after complete excisional surgery of OSCC. This pilot study will aim to validate the analysis of DNA methylation markers in saliva of OSCC, with the aim of improving the diagnostic precision of OSCC and, secondly, to compare these markers before and after treatment by primary surgery.
The investigators will conduct a case-control study among under-two children in Lombok Timur, West Nusa Tenggara, Indonesia. The power required to detect changes in epigenetic markers may not be sufficient in the cohort study. Therefore, specific case-control design of stunted vs non-stunted children will provide the required power to detect potential epigenetic markers which will be further investigated through targeted sequencing of the cohort study. A total of 150 stunted children will be recruited and then it will be matched with 150 non-stunted children with the same sex. The assessments for these study subjects will include: 1) The genetic and epigenetic profile of the children, gut microbiota and nutritional status (Physical component), 2) Food security, Water, Sanitation and Hygiene (WASH) and Infant and Young Child Feeding (IYCF) practices (Home-Food component), 3) Children's psychosocial care and cognitive outcome (Cognition component).
Non-specific protective effects resulting from the BCG vaccine appear to be paternally inheritable. Since the BCG vaccine is known to induce trained immunity, epigenetics might explain the fathers' contribution to the immune profile of their offspring. Epigenetic inheritance in mice has recently been demonstrated, but is not established in humans yet. By studying the DNA methylation profile of sperm cells after BCG vaccination, we aim to gain insight into the possibility of epigenetic inheritance in human males.
Preterm infants (PT) often need to spend their first weeks of life in the Neonatal Intensive Care Unit (NICU) where they are exposed to several adverse conditions. Whereas a consistent number of studies suggest that NICU-related experiences may have effects on infant development including long-term impairments in emotional regulation, the underlying mechanisms remain partially unexplored. Spectral analysis of EEG signal has demonstrated that frontal alpha-band asymmetry represents a reliable biomarker of social-emotional functioning. In the literature, higher right frontal activation has been associated with worse emotional regulation but no study has measured this value during a condition of social-emotional stress such as the Still Face paradigm. Our hypothesis is that higher alpha activity will be recorded in right frontal areas in premature infants compared to healthy controls and that this activation will be associated with higher negative emotionality (i.e., worse socio-emotional regulation) expressed during the Still Face paradigm. Moreover, despite several changes in epigenetic patterns have already been reported in association with prematurity and early adverse experiences, the relationship between epigenetic changes and electroencephalographic patterns (i.e. frontal alpha asymmetry) remains unexplored. The investigators therefore expect to find associations between increased methylation levels of socio-emotional and stress related genes (i.e. SLC6A4, NR3C1, OXTR, Piezo1, Piezo2, TRPV1 and TRPM8) with spontaneous oscillations of neural activity at frontal sites measured by EEG (i.e. frontal alpha asymmetry). Finally, there is ample evidence that infant's socio-emotional regulation abilities are highly dependent on the behaviors of their caregivers. More recent studies have shown that behavior can be influenced by interoceptive awareness, i.e., the ability to perceive the physiological condition of one's body in this way and to represent one's internal states. Better interoceptive awareness is associated with better recognition of others' needs, more empathetic behaviors, and better emotional regulation. Therefore, with the present exploratory study, the investigators will compare the interceptive awareness of mothers of preterm infants with that of mothers of full-term infants by exploring possible associations of this dimension with the socio-emotional responses of preterm infants and healthy controls. The investigators expect that better socio-emotional regulation of infants is predicted by a higher level of interoceptive awareness in mothers, regardless of prematurity condition.
Children with neurodevelopmental disabilities (ND) represent an heterogeneous population characterized by a wide range of clinical diagnoses (e.g., cerebral palsy, sensory impairment, psychomotor retardation), which are associated with various deficits that emerge early in the child's life. Although it has been broadly demonstrated that children with ND exhibit several differences in social-emotional skills and emotional-behavioral regulation, the underlying mechanisms that are associated with more or less impaired developmental trajectories remain still partially unexplored. While several studies have investigated the role of biological and environmental factors in the emotional behavioral regulation of typically developing children or children with risk conditions other than ND (e.g., children who are victims of maltreatment), little research has jointly explored the role of methylation, polymorphisms, and environmental experience in the emotional-behavioral regulation of children with ND during the first years of life. The aim of this project is to investigate biological (DNA methylation, polymorphic variants, and proteomics) and environmental (e.g., painful and/or invasive nursing procedures, proximity, and physical contact) factors that might be associated with the emotional behavioral regulation of children with ND.
Preterm infants (PT) spend their first weeks of life in the Neonatal Intensive Care Unit (NICU) where they are exposed to unfavorable conditions with different effects on child development including long-term alterations in epigenetic regulation (DNA methylation). Recent studies document that these epigenetic changes are associated with behavioral modifications, such as altered stress reactivity at 3 months and 4 years. A growing number of studies suggest that protective Developmental Care (DC) procedures (e.g., breastfeeding, skin-to-skin contact (SSC), maternal holding) positively impact neurophysiological and behavioral adaptation of PT with long-term effects. Additionally, a neuro-imaging study reported that parental support in the NICU is associated with improved brain connectivity. While in term (FT) infants, parental interpersonal touch (breastfeeding, affectionate touch) is associated with reduced methylation and activation of specific brain areas associated with affective interpersonal touch, to date no study has investigated whether DC practices and maternal care in NICU (specifically, SSC) buffer methylation and support the brain response to affectionate physical touch in PT. The present study investigates the association between DC procedures in NICU, DNA methylation, and brain responses to affectionate touch, investigated through the use of MRI, at 2 months of age (corrected for prematurity), controlling for: (1) birth status (PT vs FT); (2) the duration of SSC during the NICU stay; (3) parental affectionate touch in the home environment and during mother-child interaction.
Topical Rapamycin ointment will be applied to participant forearms to test whether epigenetic changes in the skin are elicited.
This is a single center, prospective study to evaluate correlations between epigenetic aging (as measured via DNA methylation) and NAD+ levels in healthy volunteers.
The Offspring Born to Mothers with Polycystic Ovary Syndrome in Guangzhou Cohort study (PCOS-BIG) was established to investigate the short- and long-term effects of intrauterine exposure to maternal PCOS on the health of offspring in Guangzhou, China. Data are collected regarding maternal PCOS subtypes, nursing, diet and education as well as health outcomes in their later life. Biological samples including blood and tissue samples are also collected from participants.