The aims of the present study were to find new genetic markers of essential hypertension (EH) and to investigate relationships between EH and polymorphisms of the renin gene. Using single strand conformation polymorphism, we discovered a new variable number of tandem repeat (VNTR) polymorphism in intron 7 that is 18 bp upstream from the boundary with exon 8. Nucleotide sequencing revealed that this VNTR polymorphism is a tandem repeat of the 4-nucleotide sequence TCTG. There were 6 alleles of this VNTR polymorphism, ranging from 7 repeats to 12 repeats. We analyzed the association between EH and this VNTR polymorphism. There was no significant difference in the overall distribution of this VNTR polymorphism between the EH and normotensive subjects. In summary, we discovered a novel VNTR polymorphism in the renin gene, and this polymorphism was not associated with EH.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1291/hypres.26.473 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Polygenic burden of short tandem repeat expansions promotes risk for Alzheimer's disease.
Nat Commun
January 2025
Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA.
Studies of the genetics of Alzheimer's disease (AD) have largely focused on single nucleotide variants and short insertions/deletions. However, most of the disease heritability has yet to be uncovered, suggesting that there is substantial genetic risk conferred by other forms of genetic variation. There are over one million short tandem repeats (STRs) in the genome, and their link to AD risk has not been assessed.
View Article and Find Full Text PDFAssociation studies of vasoactive genes and preeclampsia in taiwan.
Placenta
January 2025
Department of Obstetrics and Gynecology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan City, Taiwan. Electronic address:
Background: Preeclampsia (PE) is a serious condition characterized by hypertension and proteinuria after 20 weeks of gestation. The exact cause of PE is unknown but may involve abnormalities in the renin-angiotensin-aldosterone system (RAAS) and endothelial nitric oxide synthase (eNOS). Genetic variations in angiotensinogen (AGT), angiotensin-converting enzyme (ACE), and eNOS genes have been associated with PE.
View Article and Find Full Text PDFDifferential Impact of VNTR Polymorphism in the CBS Gene on Gastric and Breast Cancers Risk.
Indian J Clin Biochem
January 2025
Department of Biology, Faculty of Basic Sciences, Kazerun Branch, Islamic Azad University, Kazerun, Iran.
The cystathionine beta-synthase (CBS) gene plays a critical role in numerous physiological processes, including cellular proliferation, bioenergetics, and redox balance, and has been implicated in many cancers, including breast and gastric cancers. Previous studies have suggested that VNTR polymorphism in intron 13 of the CBS gene may influence enzyme activity, as an increase in the number of repeats in this VNTR leads to a reduction in the activity of the CBS enzyme. In this case-control study, for the first time, we genotyped 107 patients with gastric cancer (and 111 healthy controls) and 138 patients with breast cancer (and 124 healthy controls) for the CBS VNTR polymorphism using PCR.
View Article and Find Full Text PDFDefects in the Mitochondrial Genome of Dogs with Recurrent Tumours.
Int J Mol Sci
December 2024
Institute of Biological Bases of Animal Production, University of Life Sciences in Lublin, Akademicka 13 St., 20-950 Lublin, Poland.
This study presents a comprehensive analysis of mitochondrial DNA (mtDNA) variations in dogs diagnosed with primary and recurrent tumours, employing Oxford Nanopore Technologies (ONT) for sequencing. Our investigation focused on mtDNA extracted from blood and tumour tissues of three dogs, aiming to pinpoint polymorphisms, mutations, and heteroplasmy levels that could influence mitochondrial function in cancer pathogenesis. Notably, we observed the presence of mutations in the D-loop region, especially in the VNTR region, which may be crucial for mitochondrial replication, transcription, and genome stability, suggesting its potential role in cancer progression.
View Article and Find Full Text PDFUnveiling the Role of Human PER3 Gene Polymorphism (rs57875989) as a Potential Risk Factor in Fibromyalgia Syndrome Patients.
Cureus
December 2024
Department of Biochemistry, Era University, Era's Lucknow Medical College and Hospital, Lucknow, IND.
Purpose Fibromyalgia syndrome (FMS) presents a chronic pain condition affecting muscles and joints. Investigating circadian rhythms' disruption, integral to physiological responses, this study delves into the potential impact of gene polymorphism (rs57875989) on FMS pathogenesis. Methods In this study, we investigated gene polymorphism in 100 FMS patients and an equal number of control individuals.
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!