Genetic and epigenetic factors affecting carotid intima-media thickness in monozygotic twins.

Gene

Department of Clinical Laboratory and Biomedical Sciences, Osaka University Graduate School of Medicine, Yamadaoka 1-7, Suita, Osaka, Japan; Center for Twin Research, Osaka University Graduate School of Medicine, Yamadaoka 1-7, Suita, Osaka, Japan. Electronic address:

Published: February 2025

AI Article Synopsis

  • The study investigates the relationship between carotid artery intima-media thickness (IMT), a marker for atherosclerosis, and genetic/epigenetic factors, particularly focusing on monozygotic twins.
  • Using ultrasonography and various genetic analyses, researchers found significant associations between specific single nucleotide polymorphisms (SNPs) and DNA methylation patterns affecting IMT.
  • Findings suggest that certain genetic variants and methylation changes could help in personalized risk assessments for cardiovascular health related to carotid IMT.

Article Abstract

Background And Aims: The intima-media thickness (IMT) of the carotid artery, an indicator of subclinical atherosclerosis, varies in close association with various factors such as diabetes and immune response. The extent of changes in IMT varies among individuals owing to both genetic and epigenetic factors. In this study, we aimed to identify single nucleotide polymorphisms (SNPs) and DNA methylation patterns that affect carotid IMT in monozygotic (MZ) twins.

Methods: We measured the maximum IMT (IMT-Cmax) and the mean IMT in the common carotid artery wall using ultrasonography in 107 pairs of MZ twins recruited from the Osaka University Twin Registry. The genotyping of SNPs and the measurement of methylation levels were performed using a beads array, and the expression of each gene was determined by RNA sequencing. Linear regression analysis was performed on each of the two groups: one group consisted of twins randomly selected from each pair, and the other group consisted of co-twins.

Results: We identified a CpG site (cg02432467) on HS3ST6 as a significant epigenetic factor in both IMT-Cmax and mean IMT analyses. The methylation level at another site (cg07927379) was negatively correlated with LINC01006 expression and IMT-Cmax. Furthermore, there were significant differences in AP2A2 expression and mean IMT among individuals with each genotype of the rs10902263 polymorphism.

Conclusions: We identified genetic and epigenetic factors associated with carotid IMT that may be useful for individualized assessments.

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2024.149093DOI Listing

Publication Analysis

Top Keywords

genetic epigenetic
12
epigenetic factors
12
intima-media thickness
8
imt
8
carotid artery
8
carotid imt
8
imt-cmax imt
8
group consisted
8
carotid
5
factors
4

Similar Publications

Post-transcriptional regulation of the transcriptional apparatus in neuronal development.

Front Mol Neurosci

December 2024

Department of Microbiology, Immunology, and Molecular Genetics, University of California, Los Angeles, Los Angeles, CA, United States.

Post-transcriptional mechanisms, such as alternative splicing and polyadenylation, are recognized as critical regulatory processes that increase transcriptomic and proteomic diversity. The advent of next-generation sequencing and whole-genome analyses has revealed that numerous transcription and epigenetic regulators, including transcription factors and histone-modifying enzymes, undergo alternative splicing, most notably in the nervous system. Given the complexity of regulatory processes in the brain, it is conceivable that many of these splice variants control different aspects of neuronal development.

View Article and Find Full Text PDF

Ultraviolet (UV)-induced DNA mutations produce genetic drivers of cutaneous melanoma initiation and numerous neoantigens that can trigger anti-tumor immune responses in the host. Consequently, melanoma cells must rapidly evolve to evade immune detection by simultaneously modulating cell-autonomous epigenetic mechanisms and tumor-microenvironment interactions. Angiogenesis has been implicated in this process; although an increase of vasculature initiates the immune response in normal tissue, solid tumors manage to somehow enhance blood flow while preventing immune cell infiltration.

View Article and Find Full Text PDF

A large fraction of the genome interacts with the nuclear periphery through lamina-associated domains (LADs), repressive regions which play an important role in genome organization and gene regulation across development. Despite much work, LAD structure and regulation are not fully understood, and a mounting number of studies have identified numerous genetic and epigenetic differences within LADs, demonstrating they are not a uniform group. Here we profile Lamin B1, HP1β, H3K9me3, H3K9me2, H3K27me3, H3K14ac, H3K27ac, and H3K9ac in MEF cell lines derived from the same mouse colony and cluster LADs based on the abundance and distribution of these features across LADs.

View Article and Find Full Text PDF

Unlabelled: In most cancers, including endometrial cancer, tumor suppressor genes harboring inactivating mutations have been systematically cataloged. However, locus-specific epigenetic alterations contributing to cancer initiation and progression remain only partly described, creating knowledge gaps about functionally significant tumor suppressors and underlying mechanisms associated with their inactivation. Here, we show that PAX2 is an endometrial tumor suppressor recurrently inactivated by a distinct epigenetic reprogramming event not associated with promoter hypermethylation.

View Article and Find Full Text PDF

Tumor heterogeneity is the substrate for tumor evolution and the linchpin of treatment resistance. Cancer cell heterogeneity is largely attributed to distinct genetic changes within each cell population. However, the widespread epigenome repatterning that characterizes most cancers is also highly heterogenous within tumors and could generate cells with diverse identities and malignant features.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!