AI Article Synopsis
- The study examined how 3'UTR genetic variants affect mRNA and microRNA (miRNA) interactions in patients with familial hypercholesterolemia (FH).
- Twelve specific 3'UTR variants were found in 88 FH patients, with two variants (c.*75C>T and c.*345C>T) disrupting interactions with certain miRNAs.
- The variant c.*345C>T potentially reduces gene expression and could be valuable for developing treatments to improve cholesterol levels in FH patients through targeted miRNA strategies.
Article Abstract
Functional analysis of 3'UTR variants and mRNA-miRNA interactions were explored in patients with familial hypercholesterolemia (FH). 3'UTR variants were identified by exon-targeted gene sequencing. Functional effects of 3'UTR variants and mRNA-miRNA interactions were analyzed using and studies in HEK293FT and HepG2 cells. Twelve 3'UTR variants were detected in 88 FH patients. c.*75C >T and c.*345C >T disrupted interactions with miR-6875, miR-4721 and miR-564. Transient transfection of the c.*345C >T decreased luciferase activity in HEK293FT cells. miR-4721 and miR-564 mimics reduced expression in HepG2 cells. c.*345C >T has a possible role as loss-of-function variant. miR-4721 and miR-564 downregulate and may be useful to improve lipid profile in FH patients.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.2217/epi-2020-0462 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Translational regulation of PKD1 by evolutionarily conserved upstream open reading frames.
RNA Biol
December 2025
Department of Urology, Fuzong Clinical Medical College, Fujian Medical University, Fuzhou, China.
Mutations in coding sequence and abnormal PKD1 expression levels contribute to the development of autosomal-dominant polycystic kidney disease, the most common genetic disorder. Regulation of PKD1 expression by factors located in the promoter and 3´ UTR have been extensively studied. Less is known about its regulation by 5´ UTR elements.
View Article and Find Full Text PDFBiologically-targeted discovery-replication scan identifies G×G interaction in relation to risk of Barrett's esophagus and esophageal adenocarcinoma.
HGG Adv
January 2025
Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Inherited genetics represents an important contributor to risk of esophageal adenocarcinoma (EAC), and its precursor Barrett's esophagus (BE). Genome-wide association studies have identified ∼30 susceptibility variants for BE/EAC, yet genetic interactions remain unexamined. To address challenges in large-scale G×G scans, we combined knowledge-guided filtering and machine learning approaches, focusing on genes with (A) known/plausible links to BE/EAC pathogenesis (n=493) or (B) prior evidence of biological interactions (n=4,196).
View Article and Find Full Text PDFNanopore sequencing as a novel method of characterising anorexia nervosa risk loci.
BMC Genomics
December 2024
Pathology and Biomedical Science Department, University of Otago Christchurch, Christchurch, New Zealand.
Background: Anorexia nervosa (AN) is a polygenic, severe metabopsychiatric disorder with poorly understood aetiology. Eight significant loci have been identified by genome-wide association studies (GWAS) and single nucleotide polymorphism (SNP)-based heritability was estimated to be ~ 11-17, yet causal variants remain elusive. It is therefore important to define the full spectrum of genetic variants in the wider regions surrounding these significantly associated loci.
View Article and Find Full Text PDFComprehensive characterization of high-risk coding and non-coding single nucleotide polymorphisms of human CXCR4 gene.
PLoS One
December 2024
Infection Biology Laboratory, Department of Biochemistry and Molecular Biology, University of Dhaka, Dhaka, Bangladesh.
CXCR4, a chemokine receptor known as Fusin or CD184, spans the outer membrane of various human cells, including leukocytes. This receptor is essential for HIV infection as well as for many vital cellular processes and is implicated to be associated with multiple pathologies, including cancers. This study employs various computational tools to investigate the molecular effects of disease-vulnerable germ-line missense and non-coding SNPs of the CXCR4 gene.
View Article and Find Full Text PDFInfluence of HLA-G 3' Untranslated Region Haplotypes and SNP +3422 Gene Variants as Host Genetic Factors on the Outcomes of SARS-CoV-2 Infection During Acute and Post-Acute Phases in a German Cohort.
HLA
December 2024
Institute for Transfusion Medicine, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
HLA-G, an important immune-checkpoint (IC) molecule that exerts inhibitory signalling on immune effector cells, has been suggested to represent a key player in regulating the immune response to Severe Acute Respiratory Syndrome Coronavirus Type 2 (SARS-CoV-2). Since specific single-nucleotide polymorphisms (SNP) in the HLA-G 3'untranslated region (UTR), which arrange as haplotypes, are crucial for the regulation of HLA-G expression, we analysed the contribution of these genetic variants as host factors in SARS-CoV-2 infection during acute and post-acute phases. HLA-G gene polymorphisms in the 3'UTR were investigated by sequencing in an unvaccinated Coronavirus Disease 2019 (COVID-19) cohort during acute SARS-CoV-2 infection (N = 505) and in the post-acute phase (N = 253).
View Article and Find Full Text PDFWant 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!