The cytokine interleukin 6 (IL-6) has been linked to the pathogenesis of Alzheimer's disease (AD). This is the first study to investigate the genetic and epigenetic interactions in the control of IL-6 in human brain and its relation to AD neuropathology in prefrontal cortex tissues from AD and controls genotyped for the SNP -174 C/G rs1800795, a polymorphic CpG in which the G allele creates a CpG site. Within CC homozygotes there were significantly higher brain levels of IL-6 protein compared to G allele carriers. The C allele that resulted in an absence of methylation at a CpG was also associated with significant changes in methylation at neighboring CpGs. Furthermore, there were significant differences in methylation between CC and CG/GG at CpG sites in the AD and control groups. That DNA methylation was altered in the brains by the presence of rs1800795, which further correlated with protein levels suggests the presence of a polymorphic CpG and genetic-epigenetic interactions in the regulation of IL-6 in the prefrontal cortex within AD brains.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1016/j.neurobiolaging.2020.04.008 | DOI Listing |
Int J Mol Sci
December 2024
Laboratory of Medical Biology-Genetics, Faculty of Medicine, School of Health Sciences, Aristotle University, 54124 Thessaloniki, Greece.
This study aimed to investigate whether genes with different modes of inheritance differ in the presence of promoter-enriched CGI loci. For each autosomal chromosome, the author searched for variations in the total number of diseases' phenotypes with autosomal dominant (AD) and recessive (AR) inheritance for a list of promoter-poor CGI (CGI-) and promoter-enriched CGI (CGI+) genes using the OMIM database. Then, the CGI- and CGI+ genes displaying random allelic or bi-allelic expression were examined.
View Article and Find Full Text PDFEcotoxicol Environ Saf
December 2024
Sleep Medicine Center, State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, National Center for Respiratory Disease, the First Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong 510160, China. Electronic address:
Background: Epidemiological studies have consistently demonstrated a robust association between long-term exposure to air pollutants and respiratory diseases. However, establishing causal relationships remains challenging due to residual confounding in observational studies. In this study, Mendelian randomization (MR) analysis was used to explore the causal and epigenetic relationships between various air pollutants and common respiratory diseases.
View Article and Find Full Text PDFPhenomics
October 2024
Department of Pulmonary Medicine, Zhongshan Hospital, Fudan University, Shanghai, 200032 China.
Unlabelled: Lung cancer remains the leading cause of death among cancer patients, and the five-year survival rate is less than 25%. However, () polymorphism rs140693 predicts the prognosis of lung cancer patients still needs further verification. Primary lung cancer patients ( = 839) were collected from two hospitals, genomic DNA was extracted from blood, and genotyping was performed using SNPcan technology.
View Article and Find Full Text PDFBMC Genomics
December 2024
Physiology and Environmental Toxicology Program, Department of Organismal Biology, Uppsala University, Uppsala, Sweden.
Feather pecking (FP) is a repetitive behaviour in chickens, influenced by genetic, epigenetic, and environmental factors, similar to behaviours seen in human developmental disorders (e.g., hyperactivity, autism).
View Article and Find Full Text PDFGenome Med
December 2024
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Background: MECP2 Duplication Syndrome, also known as X-linked intellectual developmental disorder Lubs type (MRXSL; MIM: 300260), is a neurodevelopmental disorder caused by copy number gains spanning MECP2. Despite varying genomic rearrangement structures, including duplications and triplications, and a wide range of duplication sizes, no clear correlation exists between DNA rearrangement and clinical features. We had previously demonstrated that up to 38% of MRXSL families are characterized by complex genomic rearrangements (CGRs) of intermediate complexity (2 ≤ copy number variant breakpoints < 5), yet the impact of these genomic structures on regulation of gene expression and phenotypic manifestations have not been investigated.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!