The role of endothelial nitric oxide synthase gene intron 4 a/b (eNOS4a/b) variable number of tandem repeats (VNTR) polymorphism in various diseases was investigated. We investigated whether this polymorphism is associated with susceptibility to sepsis and its clinical features such as acute respiratory distress syndrome (ARDS), multiorgan dysfunction syndrome (MODS) and shock. eNOS4a/b VNTR polymorphism was determined by the polymerase chain reaction in 100 children with sepsis and in 134 healthy controls. The genotype distribution of eNOS4 was not different between the patients and controls (p=0.44). There was no statistically significant association between genotypes/allele frequency and outcomes like mortality, MODS, ARDS, and shock (p>0.05). This is the first study that evaluates the effect of eNOS4a/b polymorphism in sepsis. We were unable to show a relationship between eNOS gene intron 4 a/b VNTR polymorphism and MODS, ARDS, mortality and shock. Larger studies that do research on the interaction of such genes are needed to clarify the association between eNOS4a/b polymorphism and sepsis.
Download full-text PDF |
Source |
---|
Mol Biol Evol
December 2024
Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi 712100, China.
Pangenomes can facilitate a deeper understanding of genome complexity. Using de novo phased long-read assemblies of eight representative goat breeds, we constructed a graph-based pangenome of goats (Capra hircus) and discovered 113-Mb autosomal novel sequences. Combining this multi-assembly pangenome with low-coverage PacBio HiFi sequences, we constructed a long-read structural variations (SVs) database containing 59,325 SV deletions, 84,910 SV insertions, and 24,954 other complex SV alleles.
View Article and Find Full Text PDFHeliyon
November 2024
Irish Mycobacteria Reference Laboratory (IMRL), St. James' Hospital, Dublin, Ireland.
Whole genome sequencing-based methodologies have become extremely relevant for the molecular surveillance of human pathogens and are being increasingly introduced into national reference laboratory services. In this study, we describe the validation and implementation of core-genome Multi-Locus Sequence Typing (cgMLST) and whole genome single-nucleotide polymorphism (wgSNP) analysis at the Irish Mycobacteria Reference Laboratory, as a replacement for Mycobacterial Interspersed Repetitive Unit-Variable Number Tandem Repeat (MIRU-VNTR) typing. Concordance of clustering, discriminatory power, and ease-of-use of both WGS analytical methods were evaluated.
View Article and Find Full Text PDFCell Genom
December 2024
Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China; College of Life Sciences, University of Chinese Academy of Sciences, Beijing 100049, China. Electronic address:
Arch Virol
November 2024
BJMC and Sassoon General Hospital, Pune, Maharashtra, India.
Interleukin 1 receptor antagonist (IL1RN) is a competitive inhibitor of interleukin 1 (IL-1). Natural killer cells (NK cells) contribute to the elimination of viruses by their antiviral effector function, which depends on a balance between inhibitory and activating receptor genes such as NKG2D and NKG2A. Using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) assays, the association of intronic single-nucleotide polymorphisms (SNPs) in these genes with viral infection were assessed in 111 patients with hepatitis E virus (HEV) infection and 222 HEV-naive healthy controls.
View Article and Find Full Text PDFInt J Mol Sci
October 2024
Faculty of Physical Education, Gdansk University of Physical Education and Sport, 80-336 Gdańsk, Poland.
This narrative review examines the relationship between dopamine-related genetic polymorphisms, personality traits, and athletic success. Advances in sports genetics have identified specific single nucleotide polymorphisms (SNPs) in dopamine-related genes linked to personality traits crucial for athletic performance, such as motivation, cognitive function, and emotional resilience. This review clarifies how genetic variations can influence athletic predisposition through dopaminergic pathways and environmental interactions.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!